Q5HYK7
PR
Gene name |
SH3D19 |
Protein name |
SH3 domain-containing protein 19 |
Names |
ADAM-binding protein Eve-1, EEN-binding protein, EBP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:152503 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q5HYK7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5HYK7-F1 | Predicted | AlphaFoldDB |
604 variants for Q5HYK7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA358448786 rs1311764869 |
2 | N>D | No |
ClinGen gnomAD |
|
|
rs1311764869 CA358448787 |
2 | N>H | No |
ClinGen gnomAD |
|
|
CA3104927 rs369878668 |
3 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3104928 rs369878668 |
3 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369878668 CA3104926 |
3 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs542595181 CA3104925 |
7 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358448751 rs1346452505 |
7 | E>K | No |
ClinGen gnomAD |
|
|
rs998550336 CA107838484 |
8 | Q>* | No |
ClinGen Ensembl |
|
|
rs759083604 CA3104924 |
9 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA3104922 rs766368960 |
11 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 12 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773091254 CA3104920 |
13 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA358448707 rs1255953894 |
13 | I>V | No |
ClinGen gnomAD |
|
|
rs1561284270 CA358448632 |
24 | T>A | No |
ClinGen Ensembl |
|
|
rs901094871 CA107838432 |
24 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA358448615 rs1273588999 |
26 | I>T | No |
ClinGen gnomAD |
|
|
CA358448604 rs1234846848 |
28 | T>A | No |
ClinGen gnomAD |
|
|
rs1332400148 CA358448599 |
28 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 33 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 34 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253651498 CA358448546 |
36 | E>D | No |
ClinGen TOPMed |
|
|
rs1363517205 CA358448541 |
37 | I>T | No |
ClinGen gnomAD |
|
|
CA3104914 rs149484381 |
40 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3104913 rs771271724 |
40 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104915 rs149484381 |
40 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749795350 CA3104912 |
42 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs904511965 CA107838375 |
42 | L>R | No |
ClinGen Ensembl |
|
|
rs749795350 CA107838386 |
42 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs137967875 CA3104909 |
47 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1429604424 CA358448482 |
48 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA358448471 rs1421764960 |
49 | S>F | No |
ClinGen gnomAD |
|
|
rs1173777533 CA358448461 |
51 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs780951690 CA3104908 |
54 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs891991881 CA107838301 |
57 | P>T | No |
ClinGen Ensembl |
|
|
CA358448417 rs1579965656 |
58 | K>N | No |
ClinGen Ensembl |
|
|
rs970094921 CA107838295 |
58 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA358448398 rs1467002415 |
61 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1427378926 CA358448376 |
65 | S>P | No |
ClinGen gnomAD |
|
|
rs1057296380 CA107838279 |
68 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3104904 rs765982605 |
69 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3104903 rs563173361 |
72 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563173361 CA3104902 |
72 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761631305 CA3104900 |
73 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA358448308 rs1438216306 |
75 | R>T | No |
ClinGen gnomAD |
|
|
rs938808589 CA107838237 |
76 | L>F | No |
ClinGen Ensembl |
|
|
rs1392797643 CA358448300 |
76 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA358448280 rs1293249261 |
79 | T>I | No |
ClinGen gnomAD |
|
|
CA107838231 rs1006196809 |
79 | T>S | No |
ClinGen TOPMed |
|
|
CA107838219 rs544400187 |
81 | K>M | No |
ClinGen gnomAD |
|
|
CA107838222 rs927575142 |
81 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs776436445 CA3104899 |
86 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA358448233 rs1579965123 |
87 | Y>S | No |
ClinGen Ensembl |
|
|
rs1226391252 CA358448228 |
88 | P>S | No |
ClinGen TOPMed |
|
|
rs767672481 CA3104898 |
90 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA3104897 rs759754414 |
91 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 92 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375856466 CA107838200 |
92 | E>Q | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 93 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3104896 rs200501776 |
93 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749373921 CA107838192 |
94 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358448193 rs1196094882 |
94 | G>R | No |
ClinGen gnomAD |
|
|
rs749373921 CA3104894 |
94 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104893 rs773736243 |
99 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104891 rs748473957 |
101 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 102 | E>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA107838140 rs1040144371 |
107 | P>T | No |
ClinGen TOPMed |
|
|
rs1447149034 CA358448102 |
108 | N>H | No |
ClinGen TOPMed |
|
|
CA358448099 rs1301036347 |
108 | N>I | No |
ClinGen gnomAD |
|
|
rs1170022866 CA358448096 |
108 | N>K | No |
ClinGen TOPMed |
|
|
CA3104889 rs755461724 |
109 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA358448092 rs1373357921 |
109 | P>S | No |
ClinGen TOPMed |
|
|
rs150301049 CA3104888 |
112 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3104887 rs72723740 |
112 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3104886 rs757896312 |
113 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA107838111 rs888836773 |
113 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs888836773 CA358448056 |
113 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA107838069 rs748353245 |
114 | S>N | No |
ClinGen Ensembl |
|
|
rs1561282948 CA358448034 |
114 | S>R | No |
ClinGen Ensembl |
|
|
CA3104883 rs765175537 |
115 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433101461 CA358448029 |
115 | V>L | No |
ClinGen gnomAD |
|
|
rs909535257 CA107838043 |
117 | P>H | No |
ClinGen Ensembl |
|
|
CA3104881 rs753558636 |
118 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA3104882 rs753558636 |
118 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1420722760 CA358447979 |
119 | I>V | No |
ClinGen gnomAD |
|
|
rs375371364 CA3104880 |
120 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3104878 rs774532757 |
121 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1433078609 CA358447956 |
121 | G>R | No |
ClinGen TOPMed |
|
|
CA3104877 rs767995804 |
122 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773187322 CA3104875 |
124 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA107837987 rs147751840 |
126 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3104873 rs748661880 |
127 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs374445382 CA3104871 |
129 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358447731 rs1159406076 |
132 | G>R | No |
ClinGen gnomAD |
|
|
rs1159406076 CA358447726 |
132 | G>W | No |
ClinGen gnomAD |
|
|
rs1455516958 CA358447660 |
135 | V>M | No |
ClinGen gnomAD |
|
|
CA3104868 rs201060063 |
136 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358447617 rs1463155541 |
137 | T>I | No |
ClinGen TOPMed |
|
|
CA358447586 rs1158089079 |
139 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3104867 rs371516037 |
140 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745329310 CA3104866 |
140 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358447577 rs745329310 |
140 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA107837841 rs371516037 |
140 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3104863 rs201831997 |
141 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147112884 CA3104864 |
141 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358447561 rs1446105186 |
142 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3104860 rs752518836 |
146 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104861 rs752518836 |
146 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358447465 rs1313635906 |
148 | S>P | No |
ClinGen gnomAD |
|
|
CA3104859 rs766573456 |
149 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3104858 rs200263360 |
150 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358447412 rs1455694400 |
152 | E>K | No |
ClinGen TOPMed |
|
|
CA358447393 rs1290754550 |
153 | N>K | No |
ClinGen TOPMed |
|
|
CA3104857 rs765218124 |
154 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3104856 rs765218124 |
154 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3104855 rs762034734 |
155 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3104854 rs777248684 |
155 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs762034734 CA358447387 |
155 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA358447379 rs1579962769 |
156 | Y>S | No |
ClinGen Ensembl |
|
|
CA358447372 rs1339996812 |
157 | P>H | No |
ClinGen gnomAD |
|
|
CA358447368 rs1362789029 |
158 | S>P | No |
ClinGen TOPMed |
|
|
rs1057453987 CA107837763 |
159 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA358447362 rs1319002384 |
159 | A>T | No |
ClinGen gnomAD |
|
|
rs1233742414 CA358447348 |
161 | L>Q | No |
ClinGen TOPMed |
|
|
CA358447337 rs1419724335 |
163 | P>L | No |
ClinGen gnomAD |
|
|
rs201225279 CA107837756 |
163 | P>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1327056066 CA358447333 |
164 | V>L | No |
ClinGen TOPMed |
|
|
rs1373185276 CA358447323 |
165 | T>S | No |
ClinGen gnomAD |
|
|
CA107837741 rs906002849 |
166 | V>A | No |
ClinGen gnomAD |
|
|
CA3104846 rs147501781 |
168 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3104845 rs770402637 |
169 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 169 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770402637 CA358447306 |
169 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104843 rs777645889 |
169 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777645889 CA3104844 |
169 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104842 rs147933255 |
170 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3104841 rs752477847 |
171 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA107837665 rs1026730275 |
173 | A>T | No |
ClinGen TOPMed |
|
|
CA358447278 rs1297196125 |
174 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3104839 rs754860489 |
179 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1561281777 CA358447180 |
189 | N>I | No |
ClinGen Ensembl |
|
|
CA3104837 rs765597623 |
189 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA358447170 rs761946820 |
191 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761946820 CA3104836 |
191 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761946820 CA107837642 |
191 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA107837651 rs965901408 |
191 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753995537 CA3104834 |
192 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104833 rs764640651 |
194 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1274391312 CA358447137 |
197 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 199 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 199 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358447122 rs1198043099 |
199 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3104830 rs373709661 |
203 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759991712 CA3104829 |
204 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1435573271 CA358447055 |
207 | S>R | No |
ClinGen gnomAD |
|
|
rs1336126072 CA358447042 |
208 | F>C | No |
ClinGen gnomAD |
|
|
rs773841927 CA3104828 |
211 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311032529 CA358446975 |
212 | V>I | No |
ClinGen TOPMed |
|
|
CA3104826 rs142380318 |
214 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 214 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358446931 rs1226957526 |
215 | T>S | No |
ClinGen gnomAD |
|
|
rs769225831 CA107837523 |
216 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1468937588 CA358446909 |
217 | S>A | No |
ClinGen TOPMed |
|
|
rs370259617 CA3104823 |
217 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs754699935 CA358446867 CA3104821 |
219 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs985375312 CA107837521 |
219 | N>S | No |
ClinGen Ensembl |
|
|
CA358446844 rs1579960737 |
221 | A>D | No |
ClinGen Ensembl |
|
|
rs751402759 CA3104820 |
221 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs779230622 CA3104819 |
223 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA107837499 rs531866009 |
224 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757570132 CA3104818 |
225 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs757570132 CA358446793 |
225 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3104817 rs753906353 |
226 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA358446744 rs1579960609 |
228 | E>V | No |
ClinGen Ensembl |
|
|
CA358446728 rs1368403839 |
229 | M>I | No |
ClinGen TOPMed |
|
|
CA358446729 rs1307677954 |
229 | M>R | No |
ClinGen TOPMed |
|
|
rs756279569 CA3104815 |
230 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1444111698 CA358446715 |
232 | D>N | No |
ClinGen TOPMed |
|
|
rs937580686 CA107830686 |
233 | P>A | No |
ClinGen TOPMed |
|
|
rs752855909 CA3104794 |
234 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3104793 rs767864632 |
235 | Q>* | No |
ClinGen ExAC |
|
|
CA3104791 rs755524706 |
238 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA3104789 rs766726099 |
241 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104790 rs150966759 |
241 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs763366942 CA3104788 |
242 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3104787 rs772819698 |
243 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA358445031 rs1273528888 |
243 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 245 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358444991 rs1311408342 |
245 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA107830609 rs373289881 |
246 | R>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs761177950 CA358444961 |
246 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs761177950 CA3104785 |
246 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3104784 rs573219105 |
248 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370079240 CA3104780 |
252 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370079240 CA3104781 |
252 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771965882 CA3104778 |
254 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3104777 rs143505993 |
256 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3104776 rs778104406 |
259 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1421700637 CA358444663 |
260 | R>* | No |
ClinGen gnomAD |
|
|
CA3104775 rs771585389 |
260 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3104772 rs755081146 |
262 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3104773 rs781338415 |
262 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487377552 CA358444614 |
263 | A>T | No |
ClinGen gnomAD |
|
|
rs752048913 CA3104771 |
263 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358444564 rs1205101193 |
265 | P>Q | No |
ClinGen gnomAD |
|
|
rs1308802995 CA358444555 |
266 | G>R | No |
ClinGen gnomAD |
|
| rs748398926 | 268 | C>= | Variant assessed as Somatic; 4.733e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs987959667 CA107830514 |
268 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3104757 rs769843785 |
268 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA358442639 rs911619626 |
270 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA107826316 rs911619626 |
270 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3104755 rs781327385 |
271 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1331315510 CA358442625 |
272 | D>G | No |
ClinGen TOPMed |
|
|
rs768759168 CA3104754 |
273 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA107826295 rs202081191 |
274 | Q>R | No |
ClinGen 1000Genomes |
|
|
rs368920520 CA3104753 |
277 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358442575 rs1352806342 |
280 | P>L | No |
ClinGen gnomAD |
|
|
rs1306705247 CA358442569 |
281 | A>D | No |
ClinGen gnomAD |
|
|
rs780489185 CA3104752 |
283 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104751 rs376751671 |
285 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA107826272 rs928933703 |
288 | T>I | No |
ClinGen Ensembl |
|
|
rs750717014 CA3104750 |
288 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1464692217 CA358442512 |
290 | S>G | No |
ClinGen gnomAD |
|
|
rs914913830 CA107826271 |
290 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs757617844 CA3104748 |
294 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3104747 rs149992479 |
296 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358442450 rs1258976277 |
299 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA358442451 rs1258976277 |
299 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3104744 rs562986127 |
300 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3104745 rs760227385 |
300 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs957677989 CA107826235 |
303 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA107826226 rs767507167 |
305 | L>F | No |
ClinGen ExAC TOPMed |
|
|
rs945170974 CA107860628 |
307 | S>F | No |
ClinGen TOPMed |
|
|
CA107860613 rs1056195032 |
308 | N>H | No |
ClinGen Ensembl |
|
|
CA3104723 rs139493171 |
309 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358445616 rs1336011114 |
310 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA107860603 rs199946044 |
313 | T>I | No |
ClinGen 1000Genomes |
|
|
rs1267314374 CA358445578 CA358445579 |
314 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3104721 rs376471146 |
315 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1296610867 CA358445563 |
315 | G>V | No |
ClinGen gnomAD |
|
|
rs762760845 CA3104720 |
317 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA358445540 rs1362796776 |
318 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1362796776 CA358445542 |
318 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs772895672 CA3104719 |
318 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3104718 rs764233200 |
320 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760880675 CA107860580 |
321 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA358445513 rs1161389970 |
321 | P>L | No |
ClinGen gnomAD |
|
|
rs760880675 CA3104717 |
321 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs760880675 CA358445518 |
321 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs770087454 CA3104716 |
323 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs745971113 CA3104714 |
324 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs113012255 | 325 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774877052 CA3104713 |
325 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA358445026 rs1173870019 |
327 | P>L | No |
ClinGen gnomAD |
|
|
CA3104698 rs553131634 |
327 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs988512080 CA107859729 |
328 | V>A | No |
ClinGen TOPMed |
|
|
rs367762064 CA3104697 |
328 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358445004 rs1197397049 |
329 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 332 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561230457 CA358444872 |
337 | Q>P | No |
ClinGen Ensembl |
|
|
CA107859705 rs370763485 |
343 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1482112761 CA358444768 |
344 | P>A | No |
ClinGen gnomAD |
|
|
CA3104695 rs759616184 |
344 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA358444723 rs1272818631 |
347 | P>Q | No |
ClinGen gnomAD |
|
|
CA3104693 rs771405140 |
347 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs938376617 CA107859657 |
350 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs938376617 CA358444688 |
350 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1336222348 CA358444694 |
350 | P>S | No |
ClinGen gnomAD |
|
|
CA3104691 rs773915187 |
351 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927215457 CA107859651 |
351 | K>R | No |
ClinGen TOPMed |
|
|
rs748563912 CA3104689 |
352 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104690 rs770263008 |
352 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358444647 rs1439188737 |
354 | A>V | No |
ClinGen TOPMed |
|
|
CA3104688 rs780953494 |
356 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA358444578 rs1465200830 |
359 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 363 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420069422 CA358444500 |
364 | F>S | No |
ClinGen TOPMed |
|
|
CA3104685 rs779422973 |
365 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA358444486 rs1413431590 |
365 | N>S | No |
ClinGen gnomAD |
|
|
CA3104684 rs186990819 |
366 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3104683 rs750302383 |
368 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs778859134 CA3104682 |
370 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA107859622 rs565946429 |
371 | M>I | No |
ClinGen Ensembl |
|
|
rs753651575 CA3104680 |
371 | M>R | No |
ClinGen ExAC |
|
|
rs376629809 CA3104681 |
371 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867040485 CA107859619 |
373 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 373 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3104679 rs555539586 |
374 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358444366 rs1416042744 |
376 | K>N | No |
ClinGen TOPMed |
|
|
rs1579781422 CA358444343 |
378 | S>T | No |
ClinGen Ensembl |
|
|
rs759686281 CA3104678 |
380 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA107859606 rs867323474 |
381 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1226470389 CA358444304 |
382 | T>S | No |
ClinGen gnomAD |
|
|
rs1349358654 CA358444292 |
383 | G>E | No |
ClinGen gnomAD |
|
|
rs1449779805 CA358444273 |
385 | S>L | No |
ClinGen gnomAD |
|
|
CA3104677 rs751877425 |
385 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs766358237 CA3104676 |
388 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1333092052 CA358444237 |
388 | K>N | No |
ClinGen gnomAD |
|
|
rs1579781230 CA358444241 |
388 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 389 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs950776762 CA107859593 |
389 | S>N | No |
ClinGen TOPMed |
|
|
rs1414299532 CA358444233 |
389 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3104675 rs763143543 |
391 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA358444195 rs1310976116 |
392 | F>L | No |
ClinGen TOPMed |
|
|
CA3104674 rs773825106 |
394 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770455404 CA3104673 |
395 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1411336700 CA358444158 |
396 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA358444149 rs1274557925 |
396 | D>V | No |
ClinGen TOPMed |
|
|
rs373615753 CA3104671 |
397 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373615753 CA3104672 |
397 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779802810 CA3104668 |
398 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA3104666 rs377710335 |
401 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs778769400 CA3104665 |
402 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3104664 rs757203859 |
402 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA358444088 rs757203859 |
402 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757203859 CA358444090 |
402 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229593159 CA358444080 |
403 | P>L | No |
ClinGen gnomAD |
|
|
CA3104663 rs146287053 |
403 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA107859482 rs1021080047 |
405 | P>S | No |
ClinGen Ensembl |
|
|
rs889266313 CA107859466 |
406 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777428816 CA3104662 |
407 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA107859460 rs111861991 |
408 | P>R | No |
ClinGen Ensembl |
|
|
rs78397848 CA3104661 |
409 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358444019 rs1173064091 |
410 | Y>C | No |
ClinGen TOPMed |
|
|
CA358444009 rs1366418974 |
411 | S>R | No |
ClinGen gnomAD |
|
|
rs765722093 CA107859452 |
412 | K>T | No |
ClinGen Ensembl |
|
| TCGA novel | 413 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA107859450 rs946911309 |
413 | Y>C | No |
ClinGen TOPMed |
|
|
rs80349695 CA358443975 CA3104660 |
414 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3104659 rs72965663 |
414 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358443974 rs80349695 |
414 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358443494 rs1448697677 |
416 | S>F | No |
ClinGen gnomAD |
|
|
rs1304146175 CA358443486 |
417 | V>A | No |
ClinGen gnomAD |
|
|
CA3104634 rs760895293 |
418 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 418 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3104633 rs367960670 |
420 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3104632 rs767013800 |
422 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs374070832 CA3104631 |
423 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1434785954 CA358443356 |
426 | I>T | No |
ClinGen gnomAD |
|
|
rs1014636565 CA107857493 |
426 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA358443328 rs1561222963 |
428 | S>C | No |
ClinGen Ensembl |
|
|
rs774051005 CA3104629 |
429 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs201329549 CA3104626 |
431 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3104624 rs367852829 |
432 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA3104623 rs367852829 |
432 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA358443226 rs1303061532 |
435 | S>P | No |
ClinGen gnomAD |
|
|
rs1029865129 CA107857447 |
436 | C>R | No |
ClinGen TOPMed |
|
|
rs146575678 CA3104602 |
438 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs75521643 CA3104599 |
438 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3104600 rs75521643 |
438 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs75521643 CA3104601 |
438 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1306262639 CA358443117 |
440 | D>V | No |
ClinGen TOPMed |
|
|
rs749256514 CA3104597 |
440 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1024699797 CA107857310 |
441 | V>A | No |
ClinGen TOPMed |
|
|
rs971606600 CA107857315 |
441 | V>L | No |
ClinGen Ensembl |
|
|
CA3104595 rs145726735 |
442 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA107857305 rs958985352 |
443 | V>A | No |
ClinGen TOPMed |
|
|
rs753229911 CA3104594 |
444 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs781697031 CA3104592 |
448 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3104591 rs377758866 |
448 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 450 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA107857280 rs937251025 |
453 | L>* | No |
ClinGen TOPMed |
|
|
CA3104589 rs562789809 |
453 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA107857270 rs770843403 |
454 | E>* | No |
ClinGen Ensembl |
|
|
rs750099963 CA3104587 |
456 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs761269825 CA3104585 |
458 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104584 rs776670244 |
459 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3104582 rs186592293 |
460 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358442849 rs1184363383 |
461 | T>S | No |
ClinGen TOPMed |
|
|
rs775428050 CA358442844 |
462 | G>R | No |
ClinGen ExAC |
|
|
rs775428050 CA3104581 |
462 | G>S | No |
ClinGen ExAC |
|
|
CA3104580 rs183339685 |
465 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358442788 rs1162297651 |
467 | S>F | No |
ClinGen gnomAD |
|
|
rs564839258 CA3104579 |
468 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760526887 CA107857206 |
469 | M>I | No |
ClinGen Ensembl |
|
|
CA358442768 rs1379133041 |
470 | K>Q | No |
ClinGen TOPMed |
|
|
CA3104577 rs769890568 |
470 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA358442760 rs1466411375 |
471 | I>V | No |
ClinGen TOPMed |
|
|
rs1189680945 CA358442742 |
473 | T>I | No |
ClinGen gnomAD |
|
|
CA3104576 rs150249923 |
474 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358442720 rs1260316048 |
477 | E>* | No |
ClinGen gnomAD |
|
|
CA358442698 rs1205041233 |
480 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3104575 rs781628363 |
483 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3104556 rs769932460 |
488 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA358442364 rs1322286673 |
489 | A>G | No |
ClinGen TOPMed |
|
|
CA3104554 rs776699396 |
489 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs768793184 CA358442358 |
490 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768793184 CA3104553 |
490 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747491634 CA3104552 |
491 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA358442344 rs1427384472 |
492 | P>R | No |
ClinGen gnomAD |
|
|
rs780577118 CA3104551 |
494 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3104550 rs535575835 |
495 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs867477223 CA107854592 |
497 | A>S | No |
ClinGen Ensembl |
|
|
CA3104549 rs746239652 |
499 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 501 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 501 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1197857349 CA358442286 |
502 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 503 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753610361 CA358442270 |
504 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104546 rs753610361 |
504 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358442050 rs1221644185 |
509 | E>G | No |
ClinGen gnomAD |
|
|
CA358442043 rs1284476954 |
510 | Q>P | No |
ClinGen gnomAD |
|
|
CA3104525 rs752280673 |
511 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1019730737 CA107853277 |
511 | V>I | No |
ClinGen TOPMed |
|
|
CA358442034 rs1342668334 |
512 | D>H | No |
ClinGen gnomAD |
|
|
CA358442024 rs1359725575 |
513 | D>Y | No |
ClinGen TOPMed |
|
|
CA3104522 rs751583050 |
515 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1161962559 CA358442007 |
515 | N>K | No |
ClinGen gnomAD |
|
|
CA3104523 rs754875955 |
515 | N>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 518 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358441967 rs1399075185 |
521 | I>M | No |
ClinGen gnomAD |
|
|
rs766075839 CA3104521 |
527 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260585308 CA358441919 |
529 | D>N | No |
ClinGen TOPMed |
|
|
CA358441889 rs1188623260 |
532 | W>C | No |
ClinGen TOPMed |
|
|
rs1357726655 CA358441859 |
536 | N>K | No |
ClinGen Ensembl |
|
|
CA358441863 rs1241059011 |
536 | N>S | No |
ClinGen gnomAD |
|
|
rs1182823509 CA358441835 |
540 | Q>K | No |
ClinGen gnomAD |
|
|
rs369416112 CA3104518 |
541 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201652521 CA3104516 |
543 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772257339 CA3104515 |
544 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372072781 CA107853199 |
547 | N>K | No |
ClinGen ESP |
|
|
CA358441751 rs1229681307 |
548 | Y>S | No |
ClinGen gnomAD |
|
|
rs369054088 CA3104502 |
555 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764230993 CA3104500 |
560 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs760878729 CA3104499 |
563 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA3104498 rs753019192 |
567 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs767471234 CA3104497 |
567 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1302803895 CA358441412 |
568 | S>F | No |
ClinGen gnomAD |
|
|
CA358441407 rs1430601676 |
569 | H>R | No |
ClinGen gnomAD |
|
|
CA358441402 rs1057488214 |
570 | C>G | No |
ClinGen TOPMed |
|
|
CA107851466 rs1057488214 |
570 | C>R | No |
ClinGen TOPMed |
|
|
CA3104496 rs759704279 |
570 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1561205340 CA358441395 |
571 | V>I | No |
ClinGen Ensembl |
|
|
CA107850526 rs993964251 |
573 | G>V | No |
ClinGen TOPMed |
|
|
rs1198177755 CA358440808 |
575 | R>G | No |
ClinGen TOPMed |
|
|
CA3104483 rs557050445 |
576 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3104482 rs557050445 |
576 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3104478 rs577991165 |
579 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3104479 rs577991165 |
579 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767814344 CA3104480 |
579 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104477 rs757612474 |
581 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1397065656 CA358440718 |
582 | Y>H | No |
ClinGen TOPMed |
|
|
rs184665843 CA3104475 |
586 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs868147500 CA107850456 |
586 | Q>R | No |
ClinGen Ensembl |
|
|
rs762280616 CA3104473 |
587 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA358440616 rs1561201803 |
588 | D>E | No |
ClinGen Ensembl |
|
|
rs1404260970 CA358440624 |
588 | D>G | No |
ClinGen TOPMed |
|
|
rs372532779 CA3104472 |
594 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1229131365 CA358440516 |
596 | E>K | No |
ClinGen gnomAD |
|
|
CA3104471 rs768366823 |
602 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs746437657 CA3104470 |
603 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774972478 CA3104469 |
604 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA358440366 rs1450162736 |
606 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 607 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159778367 CA358440322 |
609 | A>S | No |
ClinGen gnomAD |
|
|
rs1454942949 CA358440314 |
610 | R>G | No |
ClinGen gnomAD |
|
|
CA358440310 rs1361511395 |
610 | R>K | No |
ClinGen gnomAD |
|
|
CA358440295 rs1157958217 |
611 | G>E | No |
ClinGen gnomAD |
|
|
CA3104466 rs778859229 |
612 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386262573 CA358440287 |
612 | E>K | No |
ClinGen gnomAD |
|
|
rs867722477 CA107850400 |
614 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1209851220 CA358440258 |
614 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1209851220 CA358440257 |
614 | R>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA358440252 rs1486907019 |
615 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756964472 CA3104465 |
619 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA358440193 rs1243556083 |
620 | F>L | No |
ClinGen gnomAD |
|
|
rs1381746635 CA358440172 |
621 | P>L | No |
ClinGen gnomAD |
|
|
rs371735565 CA3104464 |
622 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 625 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3104463 rs200083226 |
628 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1386779956 CA358440077 |
629 | E>D | No |
ClinGen gnomAD |
|
|
rs1287723042 CA358440087 |
629 | E>K | No |
ClinGen gnomAD |
|
|
rs192063486 CA3104462 |
629 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358440061 rs1443189818 |
630 | D>E | No |
ClinGen gnomAD |
|
|
rs751898067 CA3104461 |
630 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA358440046 rs1384955440 |
631 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1194521953 CA358440039 |
632 | P>H | No |
ClinGen gnomAD |
|
|
rs758515056 CA3104439 |
640 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA107849879 rs571911913 |
640 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA358439846 rs750542527 |
641 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA3104438 rs750542527 |
641 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA107849870 rs199543364 |
641 | T>S | No |
ClinGen TOPMed |
|
|
CA3104437 rs779219908 |
642 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1311884338 CA358439827 |
643 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 645 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358439800 rs1332075650 |
646 | K>Q | No |
ClinGen TOPMed |
|
|
CA107849833 rs757777731 |
647 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104436 rs757777731 |
647 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104435 rs371712223 |
648 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1412042965 CA358439783 |
648 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs764493777 CA3104434 |
648 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 650 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 650 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 651 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1470553698 CA358439753 |
652 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 652 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752304342 CA3104431 |
656 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480149399 CA358439725 |
657 | Q>E | No |
ClinGen gnomAD |
|
|
CA358439722 rs1233708199 |
657 | Q>P | No |
ClinGen gnomAD |
|
|
rs377708450 CA3104413 |
658 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756419467 CA3104412 |
659 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1462459521 CA358438554 |
662 | P>A | No |
ClinGen gnomAD |
|
|
CA3104411 rs374663110 |
662 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358438538 rs1251079531 |
663 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 664 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285670066 CA358438508 |
665 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1221733454 CA358438454 |
668 | A>D | No |
ClinGen gnomAD |
|
|
rs765891483 CA3104407 |
669 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358438431 rs1315305852 |
670 | H>R | No |
ClinGen gnomAD |
|
|
CA3104406 rs762410739 |
671 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs370276794 CA3104405 |
674 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769643361 CA3104404 |
676 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3104403 rs761630463 |
677 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs746061164 CA3104400 |
680 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3104401 rs768625546 |
680 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs151070661 CA3104398 |
681 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3104399 rs151070661 |
681 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs934243677 CA107846471 |
682 | F>S | No |
ClinGen TOPMed |
|
|
rs749347446 CA3104397 |
684 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104396 rs778287640 |
685 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104395 rs756619827 |
686 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA358438285 rs756619827 |
686 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1182918034 CA358438278 |
687 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs748722268 CA3104394 |
687 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358438277 rs1182918034 |
687 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA358438268 rs781524751 |
688 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358438264 rs1579629729 |
689 | Q>L | No |
ClinGen Ensembl |
|
|
rs376194040 CA3104392 |
693 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs765981469 CA3104390 |
693 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765981469 CA3104391 |
693 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3104389 rs373233096 |
697 | D>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs964321256 CA107846410 |
700 | R>G | No |
ClinGen Ensembl |
|
|
CA3104386 rs761826202 |
701 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs749904082 CA3104388 |
701 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3104387 rs761826202 |
701 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1313297131 CA358438173 |
703 | L>R | No |
ClinGen gnomAD |
|
|
rs1228093488 CA358438169 |
704 | Q>P | No |
ClinGen gnomAD |
|
|
CA358438164 rs1363354261 |
705 | D>N | No |
ClinGen gnomAD |
|
|
CA358438154 rs1272398734 |
706 | R>K | No |
ClinGen gnomAD |
|
|
CA358438141 rs1217614673 |
708 | G>R | No |
ClinGen TOPMed |
|
|
CA3104385 rs776753974 |
709 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339866680 CA358438129 |
710 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1304011236 CA358438123 |
710 | F>L | No |
ClinGen gnomAD |
|
|
CA358438099 rs1377239648 |
714 | F>S | No |
ClinGen gnomAD |
|
|
rs142870105 CA3104383 |
715 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1410323335 CA358438075 |
718 | C>G | No |
ClinGen gnomAD |
|
|
CA107845894 rs756738407 |
723 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA107845893 rs979940679 |
724 | S>I | No |
ClinGen TOPMed |
|
|
CA358437964 rs979940679 |
724 | S>N | No |
ClinGen TOPMed |
|
|
CA358437949 rs1422359447 |
725 | M>T | No |
ClinGen TOPMed |
|
|
CA107845891 rs963571651 |
725 | M>V | No |
ClinGen TOPMed |
|
|
rs1430922093 CA358437925 |
727 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 729 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3104359 rs761916760 |
729 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3104357 rs753783514 |
730 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777076392 CA3104358 |
730 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA107845849 rs376090399 |
732 | G>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1407030334 CA358437840 |
733 | R>S | No |
ClinGen TOPMed |
|
|
CA3104354 rs772532756 |
734 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1413116692 CA358437811 |
735 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 735 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358437802 rs1325654344 |
736 | K>T | No |
ClinGen TOPMed |
|
|
rs191202111 CA107845836 |
737 | A>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA358437780 rs191202111 |
737 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1338595258 CA358437756 |
739 | Y>C | No |
ClinGen gnomAD |
|
|
CA358437761 rs1406787226 |
739 | Y>H | No |
ClinGen gnomAD |
|
|
CA3104351 rs778739789 |
740 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA3104350 rs756777738 |
742 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA358437715 rs148334494 |
742 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3104349 rs148334494 |
742 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA107845770 rs1029994349 |
743 | G>E | No |
ClinGen TOPMed |
|
|
CA3104348 rs146787893 |
743 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3104346 rs752739456 |
744 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3104344 rs759416093 |
747 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3104345 rs767195509 |
747 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs750608841 CA3104343 |
749 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA358437593 rs1460061482 |
752 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs749017660 CA3104331 |
753 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 755 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216109056 CA358437140 |
756 | I>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1216109056 CA358437139 |
756 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1402343586 CA358437142 |
756 | I>V | No |
ClinGen TOPMed |
|
|
CA3104328 rs552099992 |
757 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1475957202 CA358437135 |
757 | I>V | No |
ClinGen gnomAD |
|
|
rs1339874950 CA358437109 |
761 | E>* | No |
ClinGen gnomAD |
|
|
CA358437107 rs1296172563 |
761 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1383470013 CA358437085 |
764 | D>E | No |
ClinGen gnomAD |
|
|
rs1561177999 CA358437090 |
764 | D>H | No |
ClinGen Ensembl |
|
|
rs781225050 CA3104326 |
765 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3104325 rs754683748 |
769 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs765379008 CA3104324 CA3104323 |
769 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs762006845 CA3104322 |
773 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA107841459 rs999920449 |
774 | G>E | No |
ClinGen TOPMed |
|
|
CA107841453 rs987776829 |
778 | I>M | No |
ClinGen Ensembl |
|
|
rs771943205 CA3104321 |
779 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358436940 rs1311952979 |
782 | N>K | No |
ClinGen TOPMed |
|
|
CA358436914 rs1561177734 |
784 | I>M | No |
ClinGen Ensembl |
|
|
rs1456684206 CA358436917 |
784 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
CA358436919 rs1456684206 |
784 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs954679431 CA107841434 |
785 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA107841377 rs199694166 |
788 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
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CA3104319 rs764046126 |
788 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
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CA107841385 rs764046126 |
788 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q5HYK7
7 regional properties for Q5HYK7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SH3 domain | 415 - 477 | IPR001452-1 |
| domain | SH3 domain | 495 - 554 | IPR001452-2 |
| domain | SH3 domain | 571 - 630 | IPR001452-3 |
| domain | SH3 domain | 661 - 720 | IPR001452-4 |
| domain | SH3 domain | 730 - 789 | IPR001452-5 |
| domain | SH3 domain-containing protein 19, SH3 domain 1 | 419 - 468 | IPR035834 |
| domain | SH3 domain-containing protein 19, SH3 domain 3 | 575 - 625 | IPR035835 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| proline-rich region binding | Binding to a proline-rich region, i.e. a region that contains a high proportion of proline residues, in a protein. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cytoskeleton 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. |
| positive regulation of membrane protein ectodomain proteolysis | Any process that activates or increases the frequency, rate or extent of membrane protein ectodomain peptidolysis. |
| regulation of cell morphogenesis | Any process that modulates the frequency, rate or extent of cell morphogenesis. Cell morphogenesis is the developmental process in which the shape of a cell is generated and organized. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O77775 | NCF2 | Neutrophil cytosol factor 2 | Bos taurus (Bovine) | PR |
| Q6XZF7 | DNMBP | Dynamin-binding protein | Homo sapiens (Human) | PR |
| Q86UR1 | NOXA1 | NADPH oxidase activator 1 | Homo sapiens (Human) | EV |
| P19878 | NCF2 | Neutrophil cytosol factor 2 | Homo sapiens (Human) | PR |
| Q9Y371 | SH3GLB1 | Endophilin-B1 | Homo sapiens (Human) | PR |
| Q99962 | SH3GL2 | Endophilin-A1 | Homo sapiens (Human) | PR |
| Q99961 | SH3GL1 | Endophilin-A2 | Homo sapiens (Human) | PR |
| Q99963 | SH3GL3 | Endophilin-A3 | Homo sapiens (Human) | PR |
| Q9Y5K6 | CD2AP | CD2-associated protein | Homo sapiens (Human) | SS |
| Q96B97 | SH3KBP1 | SH3 domain-containing kinase-binding protein 1 | Homo sapiens (Human) | EV |
| Q8CJ00 | Noxa1 | NADPH oxidase activator 1 | Mus musculus (Mouse) | SS |
| O70145 | Ncf2 | Neutrophil cytosol factor 2 | Mus musculus (Mouse) | PR |
| P97369 | Ncf4 | Neutrophil cytosol factor 4 | Mus musculus (Mouse) | PR |
| A7E3N7 | Noxa1 | NADPH oxidase activator 1 | Rattus norvegicus (Rat) | SS |
| A7E3N2 | Ncf2 | Neutrophil cytosol factor 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNIMNTEQSQ | NSIVSRIKVF | EGQTNIETSG | LPKKPEITPR | SLPPKPTVSS | GKPSVAPKPA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ANRASGEWDS | GTENRLKVTS | KEGLTPYPPL | QEAGSIPVTK | PELPKKPNPG | LIRSVNPEIP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GRGPLAESSD | SGKKVPTPAP | RPLLLKKSVS | SENPTYPSAP | LKPVTVPPRL | AGASQAKAYK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SLGEGPPANP | PVPVLQSKPL | VDIDLISFDD | DVLPTPSGNL | AEESVGSEMV | LDPFQLPAKT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EPIKERAVQP | APTRKPTVIR | IPAKPGKCLH | EDPQSPPPLP | AEKPIGNTFS | TVSGKLSNVE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RTRNLESNHP | GQTGGFVRVP | PRLPPRPVNG | KTIPTQQPPT | KVPPERPPPP | KLSATRRSNK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KLPFNRSSSD | MDLQKKQSNL | ATGLSKAKSQ | VFKNQDPVLP | PRPKPGHPLY | SKYMLSVPHG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IANEDIVSQN | PGELSCKRGD | VLVMLKQTEN | NYLECQKGED | TGRVHLSQMK | IITPLDEHLR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SRPNDPSHAQ | KPVDSGAPHA | VVLHDFPAEQ | VDDLNLTSGE | IVYLLEKIDT | DWYRGNCRNQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IGIFPANYVK | VIIDIPEGGN | GKRECVSSHC | VKGSRCVARF | EYIGEQKDEL | SFSEGEIIIL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KEYVNEEWAR | GEVRGRTGIF | PLNFVEPVED | YPTSGANVLS | TKVPLKTKKE | DSGSNSQVNS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LPAEWCEALH | SFTAETSDDL | SFKRGDRIQI | LERLDSDWCR | GRLQDREGIF | PAVFVRPCPA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EAKSMLAIVP | KGRKAKALYD | FRGENEDELS | FKAGDIITEL | ESVDDDWMSG | ELMGKSGIFP |
| KNYIQFLQIS |