Q12959
SS
Gene name |
DLG1 |
Protein name |
Disks large homolog 1 |
Names |
Synapse-associated protein 97 , SAP-97 , SAP97 , hDlg |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1739 |
EC number |
|
Protein Class |
|
Descriptions
Dlg1 is a member of the membrane-associated guanylate kinase (MAGUK) family of PDZ domain-containing proteins and regulates surface expression of NMDA receptors. PDZ domain adjacent to SH3 and SH3 domain interacts with GK domain for autoinhibition.
Autoinhibitory domains (AIDs)
Target domain |
694-882 (GK domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Qian Y et al. (2006) "Interdomain interactions in the tumor suppressor discs large regulate binding to the synaptic protein GukHolder", The Journal of biological chemistry, 281, 35757-63
- McGee AW et al. (1999) "Identification of an intramolecular interaction between the SH3 and guanylate kinase domains of PSD-95", The Journal of biological chemistry, 274, 17431-6
- Brenman JE et al. (1998) "Localization of postsynaptic density-93 to dendritic microtubules and interaction with microtubule-associated protein 1A", The Journal of neuroscience : the official journal of the Society for Neuroscience, 18, 8805-13
Autoinhibited structure
Activated structure
14 structures for Q12959
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1PDR | X-ray | 280 A | A | 457-555 | PDB |
| 2M3M | NMR | - | A | 318-406 | PDB |
| 2OQS | NMR | - | A | 318-406 | PDB |
| 2X7Z | X-ray | 200 A | A | 311-407 | PDB |
| 3LRA | X-ray | 295 A | A | 2-65 | PDB |
| 3RL7 | X-ray | 230 A | A/B/C/D/E/F | 220-317 | PDB |
| 3RL8 | X-ray | 220 A | A/B/C/D/E | 315-410 | PDB |
| 3W9Y | X-ray | 220 A | A | 712-904 | PDB |
| 4AMH | X-ray | 230 A | A/B | 315-405 | PDB |
| 4G69 | X-ray | 200 A | A | 310-407 | PDB |
| 7PC3 | X-ray | 195 A | A | 314-413 | PDB |
| 8CN1 | X-ray | 209 A | A/B/C/D/E/F/G/H/I/J/K/L | 219-311 | PDB |
| 8CN3 | X-ray | 271 A | A/B | 311-422 | PDB |
| AF-Q12959-F1 | Predicted | AlphaFoldDB |
633 variants for Q12959
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs78766456 CA90733745 |
2 | P>Q | No |
ClinGen TOPMed |
|
|
rs867059366 CA90733749 |
2 | P>S | No |
ClinGen Ensembl |
|
|
CA355670867 rs1360079948 |
3 | V>L | No |
ClinGen gnomAD |
|
|
rs1413258286 CA355670860 |
4 | R>W | No |
ClinGen gnomAD |
|
|
CA355670850 rs761158636 |
5 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1241629571 CA355670839 |
7 | D>H | No |
ClinGen TOPMed |
|
|
CA355674251 rs1159618844 |
8 | T>I | No |
ClinGen TOPMed |
|
|
rs1037047320 CA90733372 |
9 | Q>R | No |
ClinGen TOPMed |
|
|
CA90733370 rs1043372059 |
10 | R>K | No |
ClinGen Ensembl |
|
|
rs772746560 CA2785913 |
13 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2785912 rs769433622 |
16 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs149422844 CA90733361 |
19 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs149422844 CA90733359 |
19 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2785911 rs761550433 |
20 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1560205836 CA355674146 |
24 | Q>H | No |
ClinGen Ensembl |
|
|
rs750624859 CA90733353 |
24 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs750624859 CA2785910 |
24 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2785909 rs768255606 |
25 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369759761 CA355674139 |
26 | E>* | No |
ClinGen TOPMed |
|
|
CA2785907 rs577307210 |
26 | E>A | No |
ClinGen 1000Genomes TOPMed |
|
|
CA2785905 rs780001107 |
27 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 28 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2785904 rs771768390 |
28 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785903 rs745616960 |
29 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90733339 rs941078206 |
30 | L>I | No |
ClinGen Ensembl |
|
|
CA355674088 rs778558896 |
33 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785902 rs778558896 |
33 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90733319 rs926966709 |
34 | I>T | No |
ClinGen Ensembl |
|
|
rs757543373 CA2785901 |
34 | I>V | No |
ClinGen ExAC |
|
| TCGA novel | 35 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM209426 rs749483264 CA2785899 |
36 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1283691085 CA355674045 |
40 | I>T | No |
ClinGen TOPMed |
|
|
rs1441819158 CA355674038 |
41 | F>C | No |
ClinGen gnomAD |
|
|
CA2785898 rs188448033 |
43 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756139447 CA2785897 |
43 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1457261636 CA355674021 CA355674022 |
43 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1248338765 CA355674018 |
44 | N>Y | No |
ClinGen gnomAD |
|
|
rs753180157 CA2785896 |
45 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355674011 rs753180157 |
45 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355673998 rs1468203694 |
47 | Q>E | No |
ClinGen TOPMed |
|
|
rs1418139795 CA355673948 |
51 | D>E | No |
ClinGen gnomAD |
|
|
CA355673942 rs1231675229 |
52 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 54 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174161288 CA355673911 |
56 | Y>C | No |
ClinGen gnomAD |
|
|
rs1466482748 CA355673888 |
59 | T>I | No |
ClinGen gnomAD |
|
|
CA355673880 rs1377002963 |
61 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA355673878 rs1368073847 |
61 | L>P | No |
ClinGen TOPMed |
|
|
rs1293912265 CA355673871 |
62 | D>G | No |
ClinGen gnomAD |
|
|
CA355673855 rs1236133173 |
64 | P>R | No |
ClinGen TOPMed |
|
|
CA90728009 rs768229109 |
67 | I>T | No |
ClinGen Ensembl |
|
|
CA2785872 rs373055195 |
68 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 68 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753543349 CA2785871 |
69 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2785868 rs775132251 |
69 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785870 rs775132251 |
69 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785869 rs775132251 |
69 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766907125 CA2785867 |
70 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs368806057 CA2785866 |
71 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355673805 rs1201452687 |
72 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs749018763 CA2785863 |
73 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs113378155 CA2785862 |
78 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2785861 rs770063351 |
79 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs748318075 CA2785860 |
80 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398364706 CA355673748 |
81 | T>I | No |
ClinGen gnomAD |
|
|
rs1241678036 CA355673729 |
84 | I>L | No |
ClinGen TOPMed |
|
|
rs781377410 CA2785859 |
84 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 86 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199887410 CA2785858 |
87 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1174224321 CA355673697 |
89 | S>G | No |
ClinGen gnomAD |
|
|
CA2785857 rs747579335 |
89 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355673690 rs1423695387 |
90 | S>A | No |
ClinGen gnomAD |
|
|
CA355673652 rs1474220632 |
96 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA355673649 rs1158696537 |
96 | T>R | No |
ClinGen TOPMed |
|
|
CA2785856 rs150727151 |
98 | P>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758845252 CA2785855 |
99 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs750875663 CA2785854 |
100 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2785853 rs779415338 |
102 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755832669 CA2785852 |
103 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA90727891 rs960494222 |
106 | E>G | No |
ClinGen Ensembl |
|
|
rs141505047 CA90727898 |
106 | E>Q | No |
ClinGen ESP |
|
|
CA355675179 rs1218460472 |
107 | K>E | No |
ClinGen gnomAD |
|
|
CA2785829 rs765874369 |
110 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs750308804 CA2785827 |
112 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs765108328 CA2785826 |
115 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA355675117 rs1227276096 |
115 | T>K | No |
ClinGen TOPMed |
|
|
CA2785825 rs761445608 |
116 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1273217820 CA355675106 |
117 | P>L | No |
ClinGen TOPMed |
|
|
CA2785824 rs776924302 |
117 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA355675093 rs1419972113 |
119 | E>G | No |
ClinGen gnomAD |
|
|
rs367578142 CA2785823 |
119 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355675085 rs1157450269 |
120 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1426491971 CA355675055 |
124 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs527829647 CA2785821 |
125 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772257843 CA2785820 |
127 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs895110045 CA90617518 |
129 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA355675022 rs1488117119 |
130 | I>V | No |
ClinGen gnomAD |
|
|
CA355675012 rs1241297752 |
131 | G>A | No |
ClinGen gnomAD |
|
|
CA2785819 rs746399513 |
132 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA90617509 rs1038182821 |
132 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1279269818 CA355674986 |
135 | V>A | No |
ClinGen gnomAD |
|
|
CA2785818 rs774682995 |
138 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376212918 CA2785817 |
139 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2785816 VAR_054334 rs1802668 |
140 | K>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2785813 rs142567887 |
143 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 144 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2785812 rs779558194 |
144 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757859955 CA2785811 |
144 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA2785810 rs574735093 |
152 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1468742252 CA355674856 |
154 | H>Q | No |
ClinGen gnomAD |
|
|
CA355674850 rs1425849751 |
155 | S>F | No |
ClinGen gnomAD |
|
|
CA2785809 rs765023734 |
156 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171553339 CA355674847 |
156 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA355674824 rs1408781378 |
159 | P>L | No |
ClinGen TOPMed |
|
|
CA355674827 rs1260212786 |
159 | P>S | No |
ClinGen gnomAD |
|
|
CA2785808 rs757204806 |
160 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1293382424 CA355674823 |
160 | I>V | No |
ClinGen TOPMed |
|
|
rs201671220 CA90592078 |
162 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs200061367 CA2785778 |
163 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355673553 rs1478596224 |
164 | E>D | No |
ClinGen gnomAD |
|
|
CA2785777 rs763423341 |
165 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs535866775 CA2785776 |
166 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2785775 rs770144997 |
167 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2785774 rs762105289 |
169 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2785773 rs148027113 |
170 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2785772 rs148027113 |
170 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2785771 rs745500685 |
171 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA355673501 rs375133714 |
174 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2785770 rs375133714 |
174 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1261261367 CA355673503 |
174 | P>S | No |
ClinGen gnomAD |
|
|
rs770426015 CA2785769 |
175 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321490916 CA355673490 |
176 | I>T | No |
ClinGen TOPMed |
|
|
CA2785768 rs749215360 |
178 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs755987767 CA2785766 |
179 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2785765 rs781133340 |
181 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785764 rs781133340 |
181 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355673453 rs1285541064 |
183 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 184 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs987384122 CA90591993 |
184 | E>G | No |
ClinGen TOPMed |
|
|
rs755197938 CA2785763 |
186 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2785762 rs751787367 |
186 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334106239 CA355673430 |
187 | V>I | No |
ClinGen gnomAD |
|
|
CA2785759 rs377176801 |
192 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765788178 CA2785758 |
193 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA355673394 rs1373068965 |
193 | P>R | No |
ClinGen gnomAD |
|
|
CA90591955 rs765788178 |
193 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs762301667 CA2785757 |
194 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA355673351 rs1232310719 |
196 | N>Y | No |
ClinGen gnomAD |
|
|
rs1220713812 CA355673324 |
197 | P>L | No |
ClinGen TOPMed |
|
|
rs1481491870 CA355673318 |
198 | P>L | No |
ClinGen TOPMed |
|
|
CA355673320 rs1179832376 |
198 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1179832376 CA355673323 |
198 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 199 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA90583847 rs76681951 |
199 | P>S | No |
ClinGen Ensembl |
|
|
CA355673273 rs1489345588 |
202 | V>I | No |
ClinGen gnomAD |
|
|
rs750566095 CA2785740 |
205 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762355011 CA2785739 |
207 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA2785738 rs762355011 |
207 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1188781522 CA355673220 |
207 | L>V | No |
ClinGen TOPMed |
|
|
rs76221749 CA90583827 |
209 | T>I | No |
ClinGen Ensembl |
|
|
rs752247070 CA2785737 |
212 | Y>* | No |
ClinGen ExAC |
|
|
rs1553960814 CA355673188 |
212 | Y>N | No |
ClinGen Ensembl |
|
|
CA2785716 rs201543784 |
213 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2785715 rs767745159 |
216 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2785714 rs199703315 |
217 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA90580012 rs946264612 |
218 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs764875510 CA2785712 |
219 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785711 rs761344305 |
220 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2785710 rs776264645 |
223 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs562094599 CA2785709 |
225 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1213491567 CA355672548 |
226 | T>I | No |
ClinGen gnomAD |
|
|
CA355672550 rs1213491567 |
226 | T>K | No |
ClinGen gnomAD |
|
|
CA2785708 rs746887337 |
227 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA90579143 rs759277835 |
230 | G>R | No |
ClinGen TOPMed |
|
|
rs1007791071 CA90579140 |
238 | I>V | No |
ClinGen gnomAD |
|
|
rs1049949665 CA90579136 |
240 | G>E | No |
ClinGen TOPMed |
|
|
CA90579133 rs888923932 |
242 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA90579127 rs753426047 |
243 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs753426047 CA2785690 |
243 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2785689 rs763501037 |
245 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs760676689 CA2785688 |
246 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298827905 CA355672404 |
247 | I>F | No |
ClinGen gnomAD |
|
|
rs1461669803 CA355672379 |
250 | D>E | No |
ClinGen gnomAD |
|
|
rs775224987 CA2785687 |
255 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 257 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771932690 CA2785686 |
258 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355672310 rs1230328994 |
260 | T>I | No |
ClinGen TOPMed |
|
|
rs759278032 CA2785685 |
261 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA355672285 rs1279456377 |
265 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2785682 rs200110103 |
267 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs888008778 CA90579095 |
267 | D>N | No |
ClinGen Ensembl |
|
|
CA2785681 rs777964838 |
268 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 271 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1733772 rs781507202 COSM1733771 CA2785678 |
271 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs748689354 CA2785679 |
271 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785659 rs748123958 |
272 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs200751878 CA2785657 |
273 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA90578305 rs200387323 |
275 | C>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA355671996 rs200387323 |
275 | C>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1134986 VAR_054335 CA2785654 |
278 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1054879513 CA90578297 |
280 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 284 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375786565 CA355671936 |
284 | V>I | No |
ClinGen ESP gnomAD |
|
|
CA90578296 rs375786565 |
284 | V>L | No |
ClinGen ESP gnomAD |
|
|
CA355671929 rs1452989685 |
285 | R>C | No |
ClinGen gnomAD |
|
|
CA2785653 rs545509250 |
285 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545509250 CA355671927 |
285 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1178053626 CA355671926 |
286 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1178053626 CA355671924 |
286 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA355671889 rs1197166530 |
291 | K>E | No |
ClinGen gnomAD |
|
|
rs752188815 CA2785650 |
293 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA2785648 rs753983939 |
295 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2271822 CA2785647 |
295 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2785645 rs762612391 |
297 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2785643 rs765421513 |
298 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 302 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776911663 CA2785641 |
302 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA355671814 rs1412517617 |
303 | V>I | No |
ClinGen TOPMed |
|
|
CA90578277 rs201153255 |
304 | R>C | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs768801019 CA2785640 |
304 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs566667266 CA90578266 |
307 | V>I | No |
ClinGen 1000Genomes |
|
|
rs914853180 CA90578262 |
308 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA355671775 rs1398041564 |
309 | R>T | No |
ClinGen TOPMed |
|
|
CA355671768 rs1445894831 |
310 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 310 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355671754 rs1580119960 |
312 | P>A | No |
ClinGen Ensembl |
|
|
rs1170396545 CA355671752 |
312 | P>L | No |
ClinGen gnomAD |
|
|
CA2785636 rs746268013 |
313 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs772510206 CA2785637 |
313 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA355671749 rs772510206 |
313 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 317 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245562701 CA355671716 |
318 | M>V | No |
ClinGen gnomAD |
|
|
rs1337187142 CA355671698 |
320 | I>V | No |
ClinGen TOPMed |
|
|
rs780691676 CA2785632 |
322 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs754416713 CA2785631 |
322 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs535224305 CA90578236 |
323 | I>T | No |
ClinGen Ensembl |
|
|
rs371237523 CA2785630 |
325 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs554805815 CA2785628 |
326 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1319458820 CA355671457 |
332 | S>N | No |
ClinGen TOPMed |
|
|
CA355671416 rs1196340610 |
335 | G>E | No |
ClinGen TOPMed |
|
|
CA355671405 rs1293689559 |
336 | G>D | No |
ClinGen gnomAD |
|
|
CA355671398 rs1246540630 |
337 | V>I | No |
ClinGen gnomAD |
|
|
CA355671359 COSM1694039 COSM1694040 rs1443802262 |
340 | Q>* | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA355671361 rs1443802262 |
340 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2785612 rs779539639 CA2785613 |
340 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 343 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 346 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367779581 CA355671270 |
347 | S>G | No |
ClinGen gnomAD |
|
|
rs147695740 COSM77585 CA2785610 |
347 | S>N | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1424577122 CA355671253 |
348 | I>V | No |
ClinGen gnomAD |
|
|
rs748424022 CA2785608 |
349 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2785609 rs369164854 |
349 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355671213 rs1580083504 |
351 | T>S | No |
ClinGen Ensembl |
|
|
rs1478869912 CA355671208 |
352 | K>Q | No |
ClinGen TOPMed |
|
|
rs754136465 CA2785607 |
353 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA355671169 rs1363326788 |
356 | G>V | No |
ClinGen gnomAD |
|
|
CA355671162 rs1400660791 |
358 | A>T | No |
ClinGen gnomAD |
|
|
rs1168555834 CA355671144 |
360 | H>Q | No |
ClinGen TOPMed |
|
|
CA2785606 rs764460628 |
360 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1443090905 CA355671142 |
361 | K>E | No |
ClinGen Ensembl |
|
|
rs866931281 CA90577628 |
363 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1354190896 CA355671099 |
367 | I>V | No |
ClinGen TOPMed |
|
|
rs1287689935 CA355671076 |
370 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs767620325 CA2785603 |
373 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90577616 rs925129156 |
373 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs907221950 CA90573521 |
374 | V>M | No |
ClinGen Ensembl |
|
|
CA2785578 rs145398232 |
376 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151290819 CA2785576 |
377 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs151290819 CA355670803 |
377 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1217272197 CA355670768 |
382 | V>I | No |
ClinGen TOPMed |
|
|
CA90573467 rs749214941 |
386 | E>A | No |
ClinGen gnomAD |
|
|
rs763415685 CA2785575 |
386 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA355670733 rs1263238877 |
387 | A>T | No |
ClinGen gnomAD |
|
|
CA2785572 rs760326904 |
390 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90573453 rs1029549769 |
394 | T>I | No |
ClinGen TOPMed |
|
|
CA2785568 rs571186311 |
395 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376762712 CA90573445 |
395 | S>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs571186311 CA355670534 |
395 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 397 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs936497033 CA90573440 CA355670518 |
397 | F>L | No |
ClinGen gnomAD |
|
|
rs749224526 CA2785566 |
401 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA355670488 rs1446080908 |
402 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 403 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 404 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA90573429 rs891630940 |
405 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs777723301 CA2785565 |
406 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA355670461 rs1416145145 |
406 | T>I | No |
ClinGen TOPMed |
|
|
CA2785563 rs748348666 |
408 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 409 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446380068 CA355670438 |
409 | Y>F | No |
ClinGen gnomAD |
|
|
CA2785562 rs781424060 |
410 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1303784434 CA355670418 |
412 | D>N | No |
ClinGen gnomAD |
|
|
CA355670411 rs1220046530 |
413 | G>S | No |
ClinGen gnomAD |
|
|
CA2785560 rs201830088 |
414 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785561 rs201830088 |
414 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355670394 rs1482059233 |
415 | A>V | No |
ClinGen gnomAD |
|
|
rs1204813889 CA355670379 |
418 | D>N | No |
ClinGen gnomAD |
|
|
rs1204813889 CA355670381 |
418 | D>Y | No |
ClinGen gnomAD |
|
|
rs1341836500 CA355670369 |
419 | I>T | No |
ClinGen gnomAD |
|
|
CA2785559 rs766361825 |
421 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2785558 rs758922572 |
422 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA355669506 rs1456338992 |
423 | S>A | No |
ClinGen gnomAD |
|
|
rs556139731 CA2785535 |
423 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2785536 rs556139731 |
423 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2785533 rs759238456 |
426 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs773807571 CA2785532 |
427 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA355669479 rs1202000734 |
428 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2785531 rs766016229 |
428 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA355669470 rs1267124914 |
429 | N>T | No |
ClinGen gnomAD |
|
|
rs143253568 CA2785530 |
430 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2785528 rs201300547 |
432 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355669431 rs1579619607 |
435 | S>A | No |
ClinGen Ensembl |
|
|
rs558256686 CA90564096 |
439 | Q>E | No |
ClinGen 1000Genomes |
|
|
rs776543439 CA2785526 |
439 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA355669385 rs1026224891 |
442 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA90564061 rs1026224891 |
442 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1320612581 CA355669355 |
447 | Y>C | No |
ClinGen gnomAD |
|
|
CA355669350 rs1456285584 |
448 | S>T | No |
ClinGen gnomAD |
|
|
CA2785522 rs772262678 |
449 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1453482837 CA355669337 |
450 | V>I | No |
ClinGen TOPMed |
|
|
CA90563992 rs898564562 |
451 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA355669330 rs898564562 |
451 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA90564002 rs767778999 |
451 | S>P | No |
ClinGen Ensembl |
|
|
CA2785521 rs745989035 |
454 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2785520 rs778961421 |
456 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1197270598 CA355669299 |
457 | D>N | No |
ClinGen gnomAD |
|
|
rs1430793106 CA355669295 |
457 | D>V | No |
ClinGen gnomAD |
|
|
rs911189133 CA355669291 |
458 | D>N | No |
ClinGen gnomAD |
|
|
rs911189133 CA90563965 |
458 | D>Y | No |
ClinGen gnomAD |
|
|
rs993352129 CA90563957 |
459 | E>G | No |
ClinGen Ensembl |
|
|
CA2785503 COSM70455 rs772348654 |
464 | P>R | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2785502 rs746076966 |
465 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 465 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 465 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142394314 CA2785501 |
467 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355669213 rs770848633 |
468 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770848633 CA90560821 |
468 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785500 rs770848633 |
468 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749832343 CA2785499 |
470 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA2785498 rs778091118 |
471 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1579539729 CA355669183 |
473 | S>A | No |
ClinGen Ensembl |
|
|
rs148803946 CA2785496 |
474 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200331171 CA2785495 |
474 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785494 rs200331171 |
474 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 475 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560783246 CA355669158 |
478 | F>I | No |
ClinGen Ensembl |
|
|
rs764837654 CA2785492 |
481 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs761182067 CA2785491 |
484 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763982642 CA2785489 |
489 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1185942783 CA355669072 |
490 | F>C | No |
ClinGen TOPMed |
|
|
CA355669069 rs1371485177 |
491 | I>L | No |
ClinGen gnomAD |
|
|
CA355669065 rs1307879103 |
491 | I>T | No |
ClinGen gnomAD |
|
|
CA2785488 rs760602538 |
492 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1163879679 CA355669044 |
494 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775322401 CA2785487 |
494 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457394848 CA355669029 |
497 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 498 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355669023 rs1375333660 |
498 | G>R | No |
ClinGen gnomAD |
|
|
CA2785485 rs201908156 |
499 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774514649 CA2785484 |
500 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs749375973 CA2785482 |
505 | E>G | No |
ClinGen ExAC |
|
|
CA355668981 rs1252259293 |
505 | E>K | No |
ClinGen gnomAD |
|
|
CA355668965 rs1482015206 |
507 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 509 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2785480 rs770267924 |
510 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA355668938 rs1210385820 |
511 | R>C | No |
ClinGen gnomAD |
|
|
COSM1043145 COSM1593572 CA2785479 rs748649814 |
511 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1353102906 CA355668923 |
513 | I>M | No |
ClinGen gnomAD |
|
|
CA2785478 rs781697856 |
513 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 514 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355668520 rs1388030280 |
517 | S>G | No |
ClinGen gnomAD |
|
|
CA2785455 rs767223219 |
517 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90549398 rs1055878288 |
519 | D>N | No |
ClinGen TOPMed |
|
|
rs777154455 CA2785454 |
520 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA355668479 rs1231577930 |
523 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA355668472 rs1222231682 |
524 | S>T | No |
ClinGen TOPMed |
|
|
rs1275889907 CA355668464 |
525 | H>R | No |
ClinGen TOPMed |
|
|
CA355668450 rs1173000501 |
527 | Q>* | No |
ClinGen gnomAD |
|
|
rs755582939 CA2785453 |
527 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175538061 CA355668434 |
529 | A>V | No |
ClinGen TOPMed |
|
|
rs1249967459 CA355668432 |
530 | A>P | No |
ClinGen TOPMed |
|
|
rs1354882410 CA355668425 |
531 | A>S | No |
ClinGen gnomAD |
|
|
rs1424580938 CA355668406 |
534 | N>H | No |
ClinGen TOPMed |
|
|
rs868588413 CA90549379 |
535 | A>D | No |
ClinGen Ensembl |
|
|
rs937363240 CA90549373 |
537 | Q>P | No |
ClinGen TOPMed |
|
|
rs937363240 CA355668384 |
537 | Q>R | No |
ClinGen TOPMed |
|
|
CA355668379 rs767490280 |
538 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2785451 rs767490280 |
538 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs754879193 CA2785450 |
538 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1579276062 COSM292637 CA355668366 |
540 | T>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs766179146 CA2785449 |
541 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206363549 CA355668363 |
541 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 542 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355668355 rs1423689971 |
542 | V>D | No |
ClinGen TOPMed |
|
|
rs747276296 CA90549309 |
544 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2785446 rs750589067 |
545 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs765433062 CA2785445 |
546 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs751111390 CA355668330 |
546 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785444 rs751111390 |
546 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201145407 CA2785443 |
547 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397296475 CA355668323 |
548 | E>Q | No |
ClinGen TOPMed |
|
|
rs1156542597 CA355657179 |
549 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 549 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355657178 rs1156542597 |
549 | E>G | No |
ClinGen TOPMed |
|
|
rs750165570 CA2785428 |
550 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA2785427 rs577786990 |
552 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141544348 CA2785426 |
552 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374001902 CA90953656 |
557 | I>M | No |
ClinGen ESP gnomAD |
|
|
CA2785425 rs754033983 |
561 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2785423 rs139789027 |
562 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA90953636 rs1050842234 |
563 | Q>H | No |
ClinGen Ensembl |
|
|
CA2785422 rs776028025 |
564 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA355657000 rs1206373253 |
566 | N>T | No |
ClinGen gnomAD |
|
|
rs1482995804 CA355656994 |
567 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs772346988 CA2785421 |
567 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 571 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774665734 CA2785419 |
573 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA355656942 rs1226816219 |
575 | S>A | No |
ClinGen gnomAD |
|
|
CA355656929 rs1295215276 |
577 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs769502806 CA355656928 |
577 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769502806 CA2785418 |
577 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747785538 CA355656903 CA2785417 |
579 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276549172 CA355656892 |
580 | Q>R | No |
ClinGen TOPMed |
|
|
rs780689736 CA2785416 |
581 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA355656863 rs746948471 |
582 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746948471 CA2785415 |
582 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746948471 CA2785414 |
582 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90953585 rs974765385 |
583 | S>P | No |
ClinGen gnomAD |
|
|
rs974765385 CA90953587 |
583 | S>T | No |
ClinGen gnomAD |
|
|
rs1459388505 CA355656847 |
584 | L>I | No |
ClinGen gnomAD |
|
|
rs962934207 CA90953583 COSM1633091 COSM1633092 |
585 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA2785413 rs534430510 |
586 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355655576 rs1248730462 |
588 | A>T | No |
ClinGen gnomAD |
|
|
CA2785398 rs774753940 |
589 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs937872964 CA90949678 |
591 | D>G | No |
ClinGen Ensembl |
|
|
rs766668748 CA2785397 |
592 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA2785396 rs761454680 |
595 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785394 rs377679247 |
598 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1365297716 CA355655428 |
599 | G>E | No |
ClinGen TOPMed |
|
|
rs1578840406 CA355655431 |
599 | G>R | No |
ClinGen Ensembl |
|
|
CA355655418 rs1451447881 |
601 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA355655391 rs1320719007 |
605 | L>M | No |
ClinGen gnomAD |
|
|
rs774861097 CA2785392 |
606 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772108454 CA2785391 |
608 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142423292 CA2785390 |
609 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2785389 rs374138843 |
612 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355655329 rs1172247300 |
614 | H>Y | No |
ClinGen gnomAD |
|
|
rs1451954843 CA355655316 |
616 | I>V | No |
ClinGen gnomAD |
|
|
rs757079575 CA2785388 |
618 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA355655279 rs1188066407 |
621 | D>G | No |
ClinGen gnomAD |
|
|
CA355655236 rs1258478182 |
626 | A>V | No |
ClinGen gnomAD |
|
|
rs1319090431 CA355655235 |
627 | R>G | No |
ClinGen TOPMed |
|
|
rs1483420316 CA355655224 |
628 | Q>R | No |
ClinGen gnomAD |
|
|
CA2785385 rs756257501 |
629 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA355655215 rs1231984587 |
630 | T>P | No |
ClinGen gnomAD |
|
|
CA355655206 rs1344303376 |
631 | P>R | No |
ClinGen gnomAD |
|
|
CA2785384 rs752886711 |
633 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA355655181 rs1578838836 |
635 | S>G | No |
ClinGen Ensembl |
|
|
rs957670885 CA90949615 |
635 | S>R | No |
ClinGen gnomAD |
|
|
CA90949592 rs1047907729 |
636 | D>G | No |
ClinGen TOPMed |
|
|
rs755522594 CA2785382 |
636 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755522594 CA2785383 |
636 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355655165 rs1251193672 |
637 | E>G | No |
ClinGen TOPMed |
|
|
CA355655158 rs1401942383 |
638 | V>A | No |
ClinGen gnomAD |
|
|
rs751993034 CA2785381 |
638 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA355655156 rs369412843 CA90949581 |
639 | G>R | No |
ClinGen ESP gnomAD |
|
|
rs763252926 CA355655145 |
641 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763252926 CA2785379 |
641 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785377 rs763877437 |
644 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370279637 CA355655116 |
645 | R>C | No |
ClinGen gnomAD |
|
|
rs1188424272 CA355655114 |
645 | R>P | No |
ClinGen gnomAD |
|
|
CA2785376 rs760234405 |
646 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 648 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2785354 rs200616174 |
652 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785353 rs767076677 |
654 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2785352 rs560145346 |
654 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 660 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs983465160 CA90946947 |
661 | N>S | No |
ClinGen TOPMed |
|
|
rs773970168 CA2785351 |
662 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA90946939 rs945330889 |
664 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs775676371 CA90946937 |
665 | R>T | No |
ClinGen gnomAD |
|
|
CA2785350 rs35430440 RCV000973172 |
666 | D>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs952945407 CA90946935 |
666 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA355654410 rs1426738053 |
666 | D>N | No |
ClinGen TOPMed |
|
|
CA355654373 rs1560525885 |
668 | G>E | No |
ClinGen Ensembl |
|
|
CA2785302 rs200527966 |
669 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774486492 CA2785301 |
672 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs201276458 CA2785300 |
674 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA90944370 rs764795718 |
674 | M>V | No |
ClinGen Ensembl |
|
|
rs1322528178 CA355652861 |
676 | S>L | No |
ClinGen TOPMed |
|
|
rs1209314980 CA355652825 |
678 | G>D | No |
ClinGen TOPMed |
|
|
CA2785280 rs759793588 |
680 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA355650942 rs1560454550 |
681 | H>R | No |
ClinGen Ensembl |
|
|
rs774306039 CA2785279 |
683 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749786841 CA2785277 |
684 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749786841 CA355650876 |
684 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770973751 CA2785278 |
684 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749786841 CA90940573 |
684 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA90940570 rs914508596 |
686 | A>T | No |
ClinGen gnomAD |
|
|
CA2785275 rs770401999 |
688 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs773802586 CA2785276 |
688 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1204784700 CA355650754 |
689 | S>T | No |
ClinGen gnomAD |
|
|
CA355650646 rs1578473987 |
693 | Y>C | No |
ClinGen Ensembl |
|
|
rs74674649 CA2785274 |
694 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2785239 rs766663727 |
695 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs763262067 CA2785238 |
698 | E>D | No |
ClinGen ExAC |
|
|
rs750587478 CA2785237 |
699 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556519100 CA2785236 |
700 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs777149136 CA2785234 |
702 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1162588138 CA355649644 |
702 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2785233 rs769021454 |
703 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA355649613 rs1213912687 |
705 | P>S | No |
ClinGen gnomAD |
|
|
rs1560436302 CA355649562 |
709 | Q>L | No |
ClinGen Ensembl |
|
| rs1271622068 | 710 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346596857 CA355649452 |
713 | Y>C | No |
ClinGen TOPMed |
|
|
CA2785211 rs767805250 |
714 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1299861705 CA355649433 |
715 | R>* | No |
ClinGen TOPMed |
|
|
rs537841426 CA2785209 |
715 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs997668270 CA90938353 |
717 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2785208 rs148283553 |
717 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747730053 CA2785207 |
719 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA355649355 rs1189203679 |
723 | M>T | No |
ClinGen TOPMed |
|
|
CA355649358 rs1317434987 |
723 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1417747792 CA355649323 |
725 | D>E | No |
ClinGen gnomAD |
|
|
rs956412267 CA90938347 |
726 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA355649312 rs1377150302 |
726 | R>S | No |
ClinGen gnomAD |
|
|
rs1163188867 CA355649284 |
729 | D>H | No |
ClinGen gnomAD |
|
|
rs776000134 CA2785206 |
731 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA355649257 rs1174213132 |
731 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1239607317 CA355649252 |
731 | L>W | No |
ClinGen gnomAD |
|
|
rs1180430022 CA355649204 |
735 | F>L | No |
ClinGen TOPMed |
|
|
rs1392733077 CA355649202 |
736 | P>A | No |
ClinGen gnomAD |
|
|
rs768695952 CA2785205 |
736 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1180060626 CA355649178 |
738 | K>T | No |
ClinGen gnomAD |
|
|
rs1191537594 CA355649148 |
741 | S>T | No |
ClinGen gnomAD |
|
|
CA2785204 rs746862777 |
745 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1390220134 CA355648923 |
751 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA355648894 rs1293745338 |
753 | Y>H | No |
ClinGen gnomAD |
|
|
rs1200127049 CA355648801 |
758 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA90938099 rs556487482 |
759 | D>N | No |
ClinGen gnomAD |
|
|
rs749406565 CA2785175 |
759 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 761 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2785173 rs756095854 |
763 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA355648656 rs1353418226 |
766 | R>G | No |
ClinGen gnomAD |
|
|
CA2785172 rs752749827 |
772 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90938090 rs1051818187 |
773 | I>T | No |
ClinGen Ensembl |
|
|
CA355648503 rs1462741886 |
773 | I>V | No |
ClinGen gnomAD |
|
|
rs1164704741 CA355648483 |
774 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2785170 rs755469316 |
774 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA355648445 rs1410733645 |
776 | H>R | No |
ClinGen gnomAD |
|
|
rs751977122 CA2785169 |
777 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2785168 rs375924494 |
779 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs761529133 CA2785167 |
779 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215777777 CA355648316 |
784 | Y>C | No |
ClinGen gnomAD |
|
|
rs1469114069 CA355648278 |
786 | N>H | No |
ClinGen gnomAD |
|
|
CA2785165 rs117248178 |
786 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2785166 rs117248178 |
786 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760144420 CA2785164 |
787 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs371009210 CA90938043 |
790 | G>E | No |
ClinGen ESP TOPMed |
|
|
CA2785162 rs772194713 |
792 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 793 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2785161 rs759493254 |
793 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs774295386 CA2785160 |
794 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2785159 rs770595172 |
795 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs994269079 CA355648165 |
796 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs994269079 CA90938024 |
796 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2785158 rs749544930 |
797 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs78190191 CA2785157 |
797 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78685732 CA90938013 |
801 | E>K | No |
ClinGen Ensembl |
|
|
rs1394624305 CA355647759 |
805 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 808 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2785136 rs748311393 |
814 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768680905 CA2785134 |
815 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA355647659 rs1487850364 |
819 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 820 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396922069 CA355647652 |
820 | I>T | No |
ClinGen Ensembl |
|
|
rs747535008 CA2785133 |
823 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2785130 rs746276285 |
825 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA355647616 rs779280165 |
826 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785129 rs779280165 |
826 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90934367 rs769701427 |
828 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA2785128 rs769701427 |
828 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 832 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2785127 rs752360157 |
834 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2785126 rs377083623 |
835 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355647529 rs1338921032 |
835 | M>V | No |
ClinGen gnomAD |
|
|
rs775565630 CA90934357 |
837 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 838 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374901932 CA355647472 |
838 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA90934348 rs754581777 |
839 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754581777 CA2785125 |
839 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754670124 COSM1308990 CA2785103 COSM1308989 |
841 | M>I | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA355646823 rs1456199282 |
841 | M>V | No |
ClinGen gnomAD |
|
|
COSM1422074 rs751084251 CA2785102 COSM1422075 |
844 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs779555154 CA2785101 |
844 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90929405 rs12631343 |
845 | L>V | No |
ClinGen Ensembl |
|
|
rs1282868964 CA355646714 |
849 | Q>* | No |
ClinGen gnomAD |
|
|
rs1578139256 CA355646701 |
850 | A>P | No |
ClinGen Ensembl |
|
|
CA2785099 rs758272031 |
853 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1354149750 CA355646644 |
854 | F>Y | No |
ClinGen gnomAD |
|
|
rs1306451100 CA355646625 |
855 | E>G | No |
ClinGen gnomAD |
|
|
rs750334615 CA2785098 |
856 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA90929393 rs1015936844 |
857 | A>G | No |
ClinGen Ensembl |
|
|
CA2785097 rs368819214 |
858 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355646574 rs1311102081 |
859 | K>T | No |
ClinGen gnomAD |
|
|
CA355646546 rs1326854738 |
861 | E>D | No |
ClinGen gnomAD |
|
|
rs950693661 CA90929388 |
864 | F>Y | No |
ClinGen Ensembl |
|
|
CA355646500 rs1461717180 |
866 | E>Q | No |
ClinGen gnomAD |
|
|
CA355646492 rs1389756156 |
867 | H>D | No |
ClinGen gnomAD |
|
|
CA90924555 rs866657492 |
870 | A>V | No |
ClinGen Ensembl |
|
|
CA2785076 rs779459646 |
871 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1478761741 CA355646005 |
872 | V>A | No |
ClinGen gnomAD |
|
|
rs75101044 CA90924517 |
873 | Q>K | No |
ClinGen Ensembl |
|
|
CA355646000 rs1283231928 |
873 | Q>R | No |
ClinGen TOPMed |
|
|
rs778889719 CA2785073 |
875 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785074 rs778889719 |
875 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 875 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA90924509 rs765371853 |
876 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2785070 rs763811548 |
877 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368567166 CA2785069 |
879 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA90924496 rs368567166 |
879 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2785068 rs752917348 |
882 | N>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 886 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355645913 rs1180633741 |
886 | Q>R | No |
ClinGen TOPMed |
|
|
CA355645879 rs1350141676 |
891 | Q>K | No |
ClinGen gnomAD |
|
|
rs776026149 CA90924479 |
891 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
VAR_054336 rs34492126 CA2785063 |
899 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA355645747 rs1560269373 COSM138417 |
899 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA2785061 rs770242553 |
900 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785060 rs746662289 |
901 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2785059 rs760593370 |
903 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355645653 rs1334292456 |
904 | L>P | No |
ClinGen gnomAD |
No associated diseases with Q12959
11 regional properties for Q12959
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SH3 domain | 581 - 651 | IPR001452 |
| domain | PDZ domain | 224 - 311 | IPR001478-1 |
| domain | PDZ domain | 317 - 406 | IPR001478-2 |
| domain | PDZ domain | 464 - 547 | IPR001478-3 |
| domain | L27 domain | 4 - 67 | IPR004172 |
| domain | Guanylate kinase-like domain | 714 - 889 | IPR008144 |
| domain | Guanylate kinase/L-type calcium channel beta subunit | 713 - 892 | IPR008145 |
| domain | L27-1 | 6 - 63 | IPR015143 |
| domain | Disks large homolog 1-4, PDZ-associated domain | 404 - 465 | IPR019583 |
| domain | Disks large homologue 1, N-terminal PEST domain | 106 - 223 | IPR019590 |
| conserved_site | Guanylate kinase, conserved site | 746 - 763 | IPR020590 |
Functions
33 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| basement membrane | A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| bicellular tight junction | An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes. |
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| cell projection membrane | The portion of the plasma membrane surrounding a plasma membrane bounded cell surface projection. |
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic side of plasma membrane | The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| immunological synapse | An area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell formed through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and the target cell and facilitating activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction. |
| intercalated disc | A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells. |
| lateral loop | Non-compact myelin located adjacent to the nodes of Ranvier in a myelin segment. These non-compact regions include cytoplasm from the cell responsible for synthesizing the myelin. Lateral loops are found in the paranodal region adjacent to the nodes of Ranvier, while Schmidt-Lantermann clefts are analogous structures found within the compact myelin internode. |
| lateral plasma membrane | The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| MPP7-DLG1-LIN7 complex | A heterotrimeric protein complex formed by the association of MMP7, DLG1 and either LIN7A or LIN7C; regulates the stability and localization of DLG1 to cell junctions. |
| myelin sheath abaxonal region | The region of the myelin sheath furthest from the axon. |
| neuromuscular junction | The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| node of Ranvier | An axon part that is a gap in the myelin where voltage-gated sodium channels cluster and saltatory conduction is executed. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynaptic density membrane | The membrane component of the postsynaptic density. This is the region of the postsynaptic membrane in which the population of neurotransmitter receptors involved in synaptic transmission are concentrated. |
| sarcolemma | The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
| synaptic membrane | A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. |
11 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| cytoskeletal protein binding | Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton). |
| guanylate kinase activity | Catalysis of the reaction |
| kinase binding | Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. |
| L27 domain binding | Binding to a L27 domain of a protein. L27 is composed of conserved negatively charged amino acids and a conserved aromatic amino acid. L27 domains can assemble proteins involved in signaling and establishment and maintenance of cell polarity into complexes by interacting in a heterodimeric manner. |
| molecular adaptor activity | The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. |
| phosphatase binding | Binding to a phosphatase. |
| phosphoprotein phosphatase activity | Catalysis of the reaction |
| potassium channel regulator activity | Binds to and modulates the activity of a potassium channel. |
| structural constituent of postsynaptic density | The action of a molecule that contributes to the structural integrity of a postsynaptic density. |
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
48 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
| actin filament polymerization | Assembly of actin filaments by the addition of actin monomers to a filament. |
| amyloid precursor protein metabolic process | The chemical reactions and pathways involving amyloid precursor protein (APP), the precursor of amyloid-beta, a glycoprotein associated with Alzheimer's disease. |
| astral microtubule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of astral microtubules, any of the spindle microtubules that radiate in all directions from the spindle poles. |
| bicellular tight junction assembly | The aggregation, arrangement and bonding together of a set of components to form a tight junction, an occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet. |
| branching involved in ureteric bud morphogenesis | The process in which the branching structure of the ureteric bud is generated and organized. The ureteric bud is an epithelial tube that grows out from the metanephric duct. The bud elongates and branches to give rise to the ureter and kidney collecting tubules. |
| cell-cell adhesion | The attachment of one cell to another cell via adhesion molecules. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| cortical actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane. |
| cortical microtubule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures formed of microtubules and associated proteins in the cell cortex, i.e. just beneath the plasma membrane of a cell. |
| embryonic skeletal system morphogenesis | The process in which the anatomical structures of the skeleton are generated and organized during the embryonic phase. |
| endothelial cell proliferation | The multiplication or reproduction of endothelial cells, resulting in the expansion of a cell population. Endothelial cells are thin flattened cells which line the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium. |
| establishment of centrosome localization | The directed movement of the centrosome to a specific location. |
| establishment or maintenance of cell polarity | Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns. |
| establishment or maintenance of epithelial cell apical/basal polarity | Any cellular process that results in the specification, formation or maintenance of the apicobasal polarity of an epithelial cell. |
| hard palate development | The biological process whose specific outcome is the progression of the hard palate from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. The hard palate is the anterior portion of the palate consisting of bone and mucous membranes. |
| immunological synapse formation | The formation of an area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and target cell, which facilitates activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction. |
| lens development in camera-type eye | The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. |
| membrane raft organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of membrane rafts, small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. |
| negative regulation of epithelial cell proliferation | Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation. |
| negative regulation of ERK1 and ERK2 cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| negative regulation of G1/S transition of mitotic cell cycle | Any signalling pathway that decreases or inhibits the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle. |
| negative regulation of p38MAPK cascade | Any process that stops, prevents or reduces the frequency, rate or extent of p38MAPK cascade. |
| negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| negative regulation of T cell proliferation | Any process that stops, prevents or reduces the rate or extent of T cell proliferation. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| neurotransmitter receptor localization to postsynaptic specialization membrane | A process in which a neurotransmitter is transported to, or maintained in, a location within the membrane adjacent to a postsynaptic specialization (e.g. postsynaptic density). |
| peristalsis | A wavelike sequence of involuntary muscular contraction and relaxation that passes along a tubelike structure, such as the intestine, impelling the contents onwards. |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. |
| positive regulation of actin filament polymerization | Any process that activates or increases the frequency, rate or extent of actin polymerization. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of potassium ion transport | Any process that activates or increases the frequency, rate or extent of the directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| positive regulation of protein localization to plasma membrane | Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| protein-containing complex localization | A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. |
| receptor clustering | The receptor metabolic process that results in grouping of a set of receptors at a cellular location, often to amplify the sensitivity of a signaling response. |
| regulation of cell shape | Any process that modulates the surface configuration of a cell. |
| regulation of membrane potential | Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| regulation of myelination | Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons. |
| regulation of potassium ion export across plasma membrane | Any process that modulates the frequency, rate or extent of potassium ion export across the plasma membrane. |
| regulation of potassium ion import | Any process that modulates the frequency, rate or extent of potassium ion import. |
| regulation of protein localization to synapse | Any process that modulates the frequency, rate or extent of protein localization to synapse. |
| regulation of sodium ion transmembrane transport | Any process that modulates the frequency, rate or extent of sodium ion transmembrane transport. |
| regulation of ventricular cardiac muscle cell action potential | Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in a ventricular cardiac muscle cell contributing to the regulation of its contraction. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. |
| regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization | Any process that modulates the frequency, rate or extent of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization. |
| reproductive structure development | The reproductive developmental process whose specific outcome is the progression of somatic structures that will be used in the process of creating new individuals from one or more parents, from their formation to the mature structures. |
| smooth muscle tissue development | The process whose specific outcome is the progression of smooth muscle over time, from its formation to the mature structure. |
| T cell proliferation | The expansion of a T cell population by cell division. Follows T cell activation. |
21 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P31007 | dlg1 | Disks large 1 tumor suppressor protein | Drosophila melanogaster (Fruit fly) | EV |
| Q9BXL7 | CARD11 | Caspase recruitment domain-containing protein 11 | Homo sapiens (Human) | EV |
| Q92796 | DLG3 | Disks large homolog 3 | Homo sapiens (Human) | SS |
| P78352 | DLG4 | Disks large homolog 4 | Homo sapiens (Human) | SS |
| Q15700 | DLG2 | Disks large homolog 2 | Homo sapiens (Human) | SS |
| Q96NW7 | LRRC7 | Leucine-rich repeat-containing protein 7 | Homo sapiens (Human) | PR |
| Q62108 | Dlg4 | Disks large homolog 4 | Mus musculus (Mouse) | SS |
| Q8CIS0 | Card11 | Caspase recruitment domain-containing protein 11 | Mus musculus (Mouse) | SS |
| Q99KF0 | Card14 | Caspase recruitment domain-containing protein 14 | Mus musculus (Mouse) | PR |
| P70175 | Dlg3 | Disks large homolog 3 | Mus musculus (Mouse) | SS |
| Q91XM9 | Dlg2 | Disks large homolog 2 | Mus musculus (Mouse) | SS |
| Q811D0 | Dlg1 | Disks large homolog 1 | Mus musculus (Mouse) | SS |
| Q63622 | Dlg2 | Disks large homolog 2 | Rattus norvegicus (Rat) | EV |
| P31016 | Dlg4 | Disks large homolog 4 | Rattus norvegicus (Rat) | SS |
| Q62936 | Dlg3 | Disks large homolog 3 | Rattus norvegicus (Rat) | SS |
| Q62696 | Dlg1 | Disks large homolog 1 | Rattus norvegicus (Rat) | SS |
| G5ECY0 | dlg-1 | Disks large homolog 1 | Caenorhabditis elegans | SS |
| Q28C55 | dlg1 | Disks large homolog 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| Q6R005 | dlg4 | Disks large homolog 4 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q5PYH7 | dlg2 | Disks large homolog 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q5PYH5 | dlg1l | Discs large homolog 1-like protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPVRKQDTQR | ALHLLEEYRS | KLSQTEDRQL | RSSIERVINI | FQSNLFQALI | DIQEFYEVTL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LDNPKCIDRS | KPSEPIQPVN | TWEISSLPSS | TVTSETLPSS | LSPSVEKYRY | QDEDTPPQEH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ISPQITNEVI | GPELVHVSEK | NLSEIENVHG | FVSHSHISPI | KPTEAVLPSP | PTVPVIPVLP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VPAENTVILP | TIPQANPPPV | LVNTDSLETP | TYVNGTDADY | EYEEITLERG | NSGLGFSIAG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GTDNPHIGDD | SSIFITKIIT | GGAAAQDGRL | RVNDCILRVN | EVDVRDVTHS | KAVEALKEAG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SIVRLYVKRR | KPVSEKIMEI | KLIKGPKGLG | FSIAGGVGNQ | HIPGDNSIYV | TKIIEGGAAH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KDGKLQIGDK | LLAVNNVCLE | EVTHEEAVTA | LKNTSDFVYL | KVAKPTSMYM | NDGYAPPDIT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NSSSQPVDNH | VSPSSFLGQT | PASPARYSPV | SKAVLGDDEI | TREPRKVVLH | RGSTGLGFNI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VGGEDGEGIF | ISFILAGGPA | DLSGELRKGD | RIISVNSVDL | RAASHEQAAA | ALKNAGQAVT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IVAQYRPEEY | SRFEAKIHDL | REQMMNSSIS | SGSGSLRTSQ | KRSLYVRALF | DYDKTKDSGL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PSQGLNFKFG | DILHVINASD | DEWWQARQVT | PDGESDEVGV | IPSKRRVEKK | ERARLKTVKF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NSKTRDKGEI | PDDMGSKGLK | HVTSNASDSE | SSYRGQEEYV | LSYEPVNQQE | VNYTRPVIIL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GPMKDRINDD | LISEFPDKFG | SCVPHTTRPK | RDYEVDGRDY | HFVTSREQME | KDIQEHKFIE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| AGQYNNHLYG | TSVQSVREVA | EKGKHCILDV | SGNAIKRLQI | AQLYPISIFI | KPKSMENIME |
| 850 | 860 | 870 | 880 | 890 | 900 |
| MNKRLTEEQA | RKTFERAMKL | EQEFTEHFTA | IVQGDTLEDI | YNQVKQIIEE | QSGSYIWVPA |
| KEKL |