O76083
PR
Gene name |
PDE9A |
Protein name |
High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5152 |
EC number |
3.1.4.35: Phosphoric diester hydrolases |
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
26 structures for O76083
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2HD1 | X-ray | 223 A | A/B | 241-566 | PDB |
| 2YY2 | X-ray | 280 A | A/B | 241-566 | PDB |
| 3DY8 | X-ray | 215 A | A/B | 242-566 | PDB |
| 3DYL | X-ray | 270 A | A/B | 242-566 | PDB |
| 3DYN | X-ray | 210 A | A/B | 242-566 | PDB |
| 3DYQ | X-ray | 250 A | A/B | 242-566 | PDB |
| 3DYS | X-ray | 230 A | A/B | 242-566 | PDB |
| 3JSI | X-ray | 272 A | A/B | 242-566 | PDB |
| 3JSW | X-ray | 230 A | A/B | 242-566 | PDB |
| 3K3E | X-ray | 270 A | A/B | 241-566 | PDB |
| 3K3H | X-ray | 250 A | A/B | 241-566 | PDB |
| 3N3Z | X-ray | 275 A | A/B | 241-566 | PDB |
| 3QI3 | X-ray | 230 A | A/B | 1-593 | PDB |
| 3QI4 | X-ray | 250 A | A/B | 1-593 | PDB |
| 4E90 | X-ray | 250 A | A/B | 242-566 | PDB |
| 4G2J | X-ray | 240 A | A/B | 242-566 | PDB |
| 4G2L | X-ray | 300 A | A/B | 242-566 | PDB |
| 4GH6 | X-ray | 270 A | A/B | 241-566 | PDB |
| 4Y86 | X-ray | 201 A | A/B | 1-593 | PDB |
| 4Y87 | X-ray | 310 A | A/B | 1-593 | PDB |
| 4Y8C | X-ray | 270 A | A/B | 1-593 | PDB |
| 6A3N | X-ray | 260 A | A/B | 245-566 | PDB |
| 6LZZ | X-ray | 240 A | A/B | 245-566 | PDB |
| 7F0I | X-ray | 270 A | A/B | 1-593 | PDB |
| 8BPY | X-ray | 330 A | A/B | 247-561 | PDB |
| AF-O76083-F1 | Predicted | AlphaFoldDB |
482 variants for O76083
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1291839759 CA410378626 |
3 | S>Y | No |
ClinGen gnomAD |
|
|
rs753688224 CA10044846 |
5 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1250161404 CA410378638 |
5 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1250161404 CA410378639 |
5 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1178085677 CA410378644 |
6 | S>C | No |
ClinGen gnomAD |
|
|
rs1178085677 CA410378643 |
6 | S>Y | No |
ClinGen gnomAD |
|
|
rs759339217 CA10044847 |
7 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1390601065 CA410378658 |
8 | Y>* | No |
ClinGen TOPMed |
|
|
rs765090727 CA10044848 |
8 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321616919 rs867737219 |
9 | R>L | No |
ClinGen Ensembl |
|
|
CA410378664 rs1379883908 |
10 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 12 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1426550648 CA410378678 |
12 | A>T | No |
ClinGen gnomAD |
|
|
rs1436664365 CA410378688 |
13 | I>T | No |
ClinGen TOPMed |
|
|
rs1306112517 CA410378685 |
13 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1373666040 CA410378712 |
17 | I>F | No |
ClinGen TOPMed |
|
|
CA410378723 rs1173271749 |
18 | D>G | No |
ClinGen TOPMed |
|
|
rs1467723820 CA410378739 |
20 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10044851 rs777765183 |
20 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467723820 CA410378737 |
20 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10044852 rs751775054 |
21 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10044879 rs746435668 |
24 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs770457775 CA10044880 |
25 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10044882 rs745568952 |
27 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs769547069 CA10044883 |
27 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA10044884 rs775216565 |
28 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410377379 rs762935472 |
28 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10044885 rs762935472 |
28 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1569145426 CA410377388 |
29 | Y>F | No |
ClinGen Ensembl |
|
|
CA410377403 rs1270879374 |
31 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs142265152 CA10044887 |
34 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761947102 CA10044888 |
35 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10044889 rs767731909 |
36 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321584288 rs767731909 |
36 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10044891 rs756467116 |
39 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754090986 CA10044893 |
41 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs779246582 CA10044895 |
42 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA410377487 rs756737949 |
44 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10044897 rs756737949 |
44 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410377486 rs756737949 |
44 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410377490 rs1180026819 |
44 | G>V | No |
ClinGen TOPMed |
|
|
rs769496314 CA321584330 |
47 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10044900 rs769496314 COSM444540 |
47 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA321584321 rs937333569 |
47 | R>W | No |
ClinGen Ensembl |
|
|
CA10044927 rs772073925 |
48 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410377533 rs1460897521 |
49 | T>M | No |
ClinGen gnomAD |
|
|
rs1290084982 CA410377530 |
49 | T>S | No |
ClinGen TOPMed |
|
|
rs868479757 CA321585609 |
50 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA410377540 rs868479757 |
50 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1393435353 CA410377557 |
52 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1035166814 CA321585626 |
56 | T>A | No |
ClinGen Ensembl |
|
|
rs771063811 CA10044931 |
56 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA10044934 rs375760902 |
57 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10044933 COSM3693802 rs759842635 |
57 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10044936 rs763322241 COSM1031083 |
58 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA410377607 rs752094010 |
59 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10044938 rs752094010 |
59 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755533413 CA10044939 |
60 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1201484803 CA410377615 |
60 | M>V | No |
ClinGen gnomAD |
|
|
rs1184952784 CA410377644 |
63 | I>S | No |
ClinGen gnomAD |
|
|
CA10044940 rs565528895 |
63 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1419515848 CA410377649 |
64 | D>G | No |
ClinGen gnomAD |
|
|
CA10044942 rs754713360 COSM1714049 |
64 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs778717630 CA10044943 |
65 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463874211 CA410377673 |
67 | M>T | No |
ClinGen gnomAD |
|
|
rs777802788 CA10044946 |
68 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs776837240 CA321585757 |
69 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA410377685 rs770883595 |
69 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 69 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10044948 rs770883595 |
69 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10044949 rs776837240 |
69 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA410377718 rs1479153246 |
73 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1381657911 CA410377720 |
73 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs767252939 CA10045007 |
76 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA410378246 rs1602126247 |
79 | R>S | No |
ClinGen Ensembl |
|
|
rs756098680 CA10045009 |
80 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs756098680 CA410378249 |
80 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs954615814 CA321594324 |
81 | V>A | No |
ClinGen TOPMed |
|
|
rs780099702 CA10045010 |
83 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 84 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410378285 rs1321743624 |
84 | K>R | No |
ClinGen gnomAD |
|
|
CA10045012 rs755076641 |
85 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10045011 rs753861851 |
85 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753861851 CA321594366 |
85 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444216713 CA410378301 |
86 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10045014 rs369519922 |
88 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747319209 CA10045034 |
89 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs757717632 CA10045035 |
90 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs768188682 CA10045038 |
91 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10045037 rs746415649 |
91 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA410379788 rs1242343553 |
93 | K>E | No |
ClinGen gnomAD |
|
|
CA10045040 rs747828270 |
93 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10045044 rs760426596 |
95 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1233041419 CA410379806 |
96 | T>A | No |
ClinGen gnomAD |
|
|
CA10045047 rs776529980 |
98 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10045049 rs368846907 |
98 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746784838 CA10045050 |
101 | S>F | No |
ClinGen ExAC |
|
|
CA410379844 rs1164261824 |
102 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10045051 rs752653149 |
103 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs974761694 CA321615847 |
103 | E>Q | No |
ClinGen Ensembl |
|
|
CA10045054 rs559304227 |
104 | R>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10045053 rs559304227 |
104 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10045055 rs559304227 |
104 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200187195 CA321615891 |
108 | D>E | No |
ClinGen 1000Genomes |
|
|
CA10045059 rs780611492 |
110 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10045058 rs142483620 |
110 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA321615932 rs768450484 |
111 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1363253948 CA410379919 |
115 | E>G | No |
ClinGen TOPMed |
|
|
CA10045062 rs145934566 |
118 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1483977 rs145934566 CA10045061 |
118 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs199637114 CA10045060 |
118 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10045063 rs746717004 |
120 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA410379956 rs369993564 |
121 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1400290570 CA410379953 |
121 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs369993564 CA10045064 |
121 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444637776 CA410379960 |
122 | A>E | No |
ClinGen gnomAD |
|
|
CA410379958 rs949774420 |
122 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs949774420 CA321615995 |
122 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA410379998 rs1370653639 |
127 | Q>R | No |
ClinGen gnomAD |
|
|
rs776478842 CA10045065 |
128 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10045067 rs765027852 |
131 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA10045068 rs373387796 |
134 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762900988 CA10045069 |
135 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1324578576 CA410380056 |
136 | Q>H | No |
ClinGen gnomAD |
|
|
CA10045071 rs751806926 |
136 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10045072 rs762181952 |
137 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA321616074 rs866694815 |
138 | C>S | No |
ClinGen Ensembl |
|
|
CA10045074 rs377383255 |
140 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756510720 CA10045075 |
141 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA410380108 rs1201385136 COSM1031085 |
144 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM1414289 CA10045076 rs139833833 |
144 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10045077 rs754413347 |
145 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770506663 CA10045081 |
148 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1297538124 CA410380148 |
149 | R>G | No |
ClinGen gnomAD |
|
|
CA410380193 rs1287406270 |
154 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA410380201 rs759909712 |
155 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10045116 rs371874687 |
156 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10045115 rs371874687 |
156 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376847913 CA10045117 |
158 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376847913 CA10045118 COSM3758912 |
158 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1044085071 CA410380222 |
159 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs779574132 CA10045121 |
160 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs369099996 CA10045120 |
160 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410380227 rs1179298961 |
161 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 164 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410380260 rs1422652153 |
165 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 168 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178755092 CA410380710 |
169 | K>E | No |
ClinGen TOPMed |
|
|
CA10045140 rs754802526 |
171 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 171 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410380731 rs1284153882 |
172 | E>K | No |
ClinGen gnomAD |
|
|
rs778913832 CA10045141 |
177 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 177 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230432762 CA410380781 |
179 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA321576254 rs753091146 |
181 | L>S | No |
ClinGen gnomAD |
|
|
CA10045142 rs748095448 |
182 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10045143 rs758292671 |
183 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410380814 rs1260174338 |
185 | E>* | No |
ClinGen gnomAD |
|
|
rs533521025 CA10045144 |
185 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747064555 CA10045146 |
187 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10045145 rs747064555 |
187 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM276697 rs372762445 CA10045147 |
187 | R>H | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA321576283 rs1029181892 COSM1316930 |
188 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 189 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10045149 rs770130574 |
189 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs982358967 CA410380877 |
193 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10045174 rs200110573 |
193 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321584072 rs982358967 |
193 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA410380888 rs1208930677 |
195 | V>M | No |
ClinGen gnomAD |
|
|
CA410380902 rs1277043623 |
197 | E>* | No |
ClinGen gnomAD |
|
|
rs762287972 CA10045175 |
198 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569234172 CA410380931 |
201 | C>R | No |
ClinGen Ensembl |
|
|
rs770473150 CA10045176 |
201 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA410380948 rs1484679105 |
203 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 204 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1479272062 CA410380967 |
205 | I>M | No |
ClinGen gnomAD |
|
|
CA410381025 rs867454705 |
213 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA321584114 rs867454705 |
213 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs752429601 CA10045181 |
214 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA410381030 rs1238948427 |
214 | A>V | No |
ClinGen gnomAD |
|
|
CA410381033 rs1410236430 |
215 | R>K | No |
ClinGen gnomAD |
|
|
rs113117702 CA321584151 |
216 | S>G | No |
ClinGen Ensembl |
|
|
CA410381076 rs1226908737 |
219 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 222 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA321590474 rs964555784 |
223 | C>Y | No |
ClinGen TOPMed |
|
|
rs1337317180 CA410381118 |
225 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1273009655 CA410381123 |
226 | S>G | No |
ClinGen gnomAD |
|
|
CA10045201 rs763944815 |
226 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs773948486 CA321590480 |
228 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773948486 CA410381139 |
228 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773948486 CA10045202 |
228 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410381142 rs1447095576 |
229 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10045203 rs148098142 |
230 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767390196 CA10045204 |
230 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1405727999 CA410381168 |
232 | K>R | No |
ClinGen TOPMed |
|
|
CA410381175 rs1165352682 |
233 | K>T | No |
ClinGen gnomAD |
|
|
rs1416948044 CA410381185 |
234 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA321590508 rs571124452 |
234 | L>V | No |
ClinGen Ensembl |
|
|
rs1178248766 CA410381189 |
235 | T>I | No |
ClinGen gnomAD |
|
|
CA321590510 rs369428282 |
235 | T>S | No |
ClinGen Ensembl |
|
|
rs200591908 CA10045205 |
236 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA321590534 rs201357375 |
237 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs139962811 CA10045206 |
237 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766492657 CA10045207 |
238 | R>C | Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10045208 rs113340993 |
238 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113340993 CA10045209 |
238 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147667334 CA410381202 |
239 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10045211 rs147667334 |
239 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1415673528 CA410381215 |
241 | P>T | No |
ClinGen gnomAD |
|
|
CA10045212 rs535412215 |
242 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778394469 CA10045213 |
242 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs939705998 CA321590585 |
244 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA410381233 rs939705998 |
244 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs765408372 CA10045246 |
250 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA321593873 rs867896554 |
250 | P>L | No |
ClinGen Ensembl |
|
|
CA10045247 rs752956837 |
251 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA410381299 rs1388970219 |
252 | T>I | No |
ClinGen TOPMed |
|
|
rs763335769 CA10045248 |
253 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs183475207 CA410381306 |
254 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs183475207 CA10045250 |
254 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1464597959 CA410381318 |
255 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 257 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10045252 rs781511070 |
257 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10045251 rs757717743 |
257 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1383104530 CA410381340 |
259 | P>L | No |
ClinGen TOPMed |
|
|
rs1383104530 CA410381338 |
259 | P>Q | No |
ClinGen TOPMed |
|
|
rs754420036 CA10045254 |
260 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs778541188 CA10045255 |
260 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321594010 rs771657672 CA410381359 |
262 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248940040 CA410381353 |
262 | D>N | No |
ClinGen TOPMed |
|
|
CA10045259 rs188819062 |
263 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3841989 rs188819062 CA10045258 |
263 | V>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA410381392 rs1254812975 |
267 | E>G | No |
ClinGen gnomAD |
|
|
rs1468906529 CA410381407 |
269 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1569259198 CA410381434 |
271 | M>K | No |
ClinGen Ensembl |
|
|
rs1294860562 CA410381432 |
271 | M>V | No |
ClinGen gnomAD |
|
|
CA10045283 rs146382324 |
272 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10045284 rs768897115 |
275 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10045286 rs762149869 |
276 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs370407007 CA321598789 |
277 | H>R | No |
ClinGen ESP |
|
|
rs1173856671 CA410381496 |
280 | H>D | No |
ClinGen TOPMed |
|
|
rs145600714 CA410381501 |
280 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10045288 rs773556425 |
281 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1602509810 CA410381518 |
283 | G>E | No |
ClinGen Ensembl |
|
|
CA10045290 rs143538403 |
283 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1475090835 CA410381528 |
285 | V>I | No |
ClinGen gnomAD |
|
|
TCGA novel rs1180547860 CA410381537 |
286 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs753084713 CA321598802 |
288 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 288 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401847933 CA410381563 |
290 | I>V | No |
ClinGen gnomAD |
|
|
CA410381575 rs1159159460 |
291 | N>K | No |
ClinGen gnomAD |
|
|
rs1359382314 CA410381577 |
292 | P>A | No |
ClinGen gnomAD |
|
|
rs757886420 CA10045292 |
292 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA10045294 rs751167990 |
297 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA410381643 rs1421308515 |
300 | F>S | No |
ClinGen gnomAD |
|
|
CA410381653 rs13047953 |
301 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA321600585 rs942309773 |
301 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1330500958 CA410381658 |
302 | V>D | No |
ClinGen gnomAD |
|
|
rs1043840039 CA321600590 |
302 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs748221227 CA10045327 |
303 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10045329 rs778038323 |
304 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410381708 rs1222022456 |
309 | N>K | No |
ClinGen TOPMed |
|
|
rs1035664831 CA321600620 |
309 | N>S | No |
ClinGen TOPMed |
|
|
rs1035664831 CA410381706 |
309 | N>T | No |
ClinGen TOPMed |
|
|
CA10045332 rs776914895 |
309 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA410381710 rs1452464562 |
310 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 314 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770239072 CA321600640 |
315 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs770239072 CA10045334 |
315 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1256612962 CA410381749 |
315 | R>W | No |
ClinGen gnomAD |
|
|
CA321600677 rs556618952 |
316 | H>R | No |
ClinGen Ensembl |
|
|
rs144720521 CA321600679 |
318 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10045335 rs775891542 |
319 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196221237 CA410381782 |
320 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA410381801 rs1475567107 |
323 | M>V | No |
ClinGen gnomAD |
|
|
CA410381813 rs1169660090 |
324 | M>T | No |
ClinGen gnomAD |
|
|
CA10045339 rs760466741 |
327 | M>I | No |
ClinGen ExAC |
|
|
CA410381835 rs1283594186 |
327 | M>V | No |
ClinGen gnomAD |
|
|
CA10045341 rs766130628 |
329 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10045340 rs766130628 |
329 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410381857 rs1462907636 |
330 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 330 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165580133 CA410381864 |
331 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 333 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360315501 CA410381885 |
334 | Q>* | No |
ClinGen TOPMed |
|
|
rs868063230 CA321601381 |
335 | E>V | No |
ClinGen Ensembl |
|
|
CA10045377 COSM1031089 rs746475108 |
340 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs776410909 CA10045379 |
342 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA410381981 rs1337561470 |
346 | M>R | No |
ClinGen TOPMed |
|
|
rs762832936 CA10045383 |
347 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA321601399 rs141486724 |
348 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA410381996 rs751535152 |
349 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10045385 rs751535152 |
349 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs909459956 CA321601414 |
350 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10045387 COSM169476 rs767637774 |
353 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10045389 rs139964261 |
355 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750539213 CA10045392 |
358 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410382058 rs1463849765 |
358 | G>D | No |
ClinGen gnomAD |
|
|
rs750539213 CA10045393 |
358 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10045395 rs748723551 |
360 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA410382087 rs1445270216 COSM1031091 |
362 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs758992018 CA321602563 |
364 | Q>K | No |
ClinGen Ensembl |
|
|
rs768431271 CA10045419 |
365 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1330706289 CA410382120 |
366 | N>D | No |
ClinGen TOPMed |
|
|
CA10045421 rs374206521 |
368 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA321602601 rs374206521 |
368 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10045422 rs771947665 |
368 | R>H | Variant assessed as Somatic; 4.632e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA410382149 rs1347641998 |
370 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA410382159 rs773230932 |
372 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10045423 rs773230932 |
372 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359581332 CA410382162 |
373 | V>L | No |
ClinGen gnomAD |
|
|
CA10045426 rs377204997 |
374 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA321602625 rs988841386 |
374 | R>H | No |
ClinGen TOPMed |
|
|
rs765570911 CA10045428 COSM444542 |
376 | N>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 377 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA321602647 rs950448856 |
378 | I>F | No |
ClinGen TOPMed |
|
|
rs753067250 CA10045429 |
378 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950448856 CA321602645 |
378 | I>V | No |
ClinGen TOPMed |
|
|
rs1318826100 CA410382199 |
379 | S>T | No |
ClinGen gnomAD |
|
|
rs758869608 CA10045430 |
380 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 380 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752160706 CA10045432 |
384 | H>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 385 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410382246 rs1213434531 |
386 | C>G | No |
ClinGen gnomAD |
|
|
CA10045434 rs140134669 |
387 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748749285 CA10045435 |
388 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1410905130 CA410382275 |
390 | F>L | No |
ClinGen gnomAD |
|
|
rs145560514 CA10045436 |
392 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145560514 CA410382287 |
392 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA410382297 rs140836666 |
394 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000905460 rs140836666 CA10045439 |
394 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10045442 rs369535680 |
395 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10045441 rs201884723 COSM188565 |
395 | E>K | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 402 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776715415 CA10045444 |
406 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA321602759 rs372275211 |
407 | D>N | No |
ClinGen ESP TOPMed |
|
|
rs370673669 CA321602760 |
408 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10045447 rs142259432 |
413 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA10045448 rs763389319 |
413 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410382435 rs1313248416 |
414 | Q>L | No |
ClinGen Ensembl |
|
|
CA10045475 rs201281940 |
415 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10045474 rs201281940 |
415 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777313694 CA10045476 |
417 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410382528 rs1314521566 |
426 | A>G | No |
ClinGen TOPMed |
|
|
CA10045478 rs757046264 |
426 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10045479 rs781169820 |
427 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs191942684 CA321605601 |
429 | A>G | No |
ClinGen 1000Genomes |
|
|
rs1432559234 CA410382558 |
431 | I>V | No |
ClinGen TOPMed |
|
|
rs146611085 CA321605604 COSM107978 |
433 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA10045480 rs745862598 |
438 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410382618 rs1602558149 |
439 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 440 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 442 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 443 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 443 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1341539243 CA410382662 |
444 | Y>C | No |
ClinGen gnomAD |
|
|
CA410382659 rs1280441076 |
444 | Y>H | No |
ClinGen gnomAD |
|
|
CA10045483 rs780213449 |
445 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1216555374 CA410382681 |
447 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA410382682 rs1216555374 |
447 | E>Q | No |
ClinGen TOPMed |
|
|
rs749388650 CA10045484 |
449 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1211082645 CA410382699 |
449 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 450 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10045485 rs151254797 |
451 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410382719 rs1218955316 |
452 | L>V | No |
ClinGen gnomAD |
|
|
rs756000229 CA10045519 |
454 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1215084099 CA410383056 |
455 | M>K | No |
ClinGen gnomAD |
|
|
CA10045520 rs780107538 |
455 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753768399 CA10045521 |
458 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 459 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs13047465 CA321612521 |
460 | C>Y | No |
ClinGen Ensembl |
|
|
CA10045525 rs748274228 |
465 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368665913 CA10045526 |
466 | E>K | Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10045527 rs747344169 |
468 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA410383150 COSM1220037 rs1569276158 |
468 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA10045528 rs771336877 |
469 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA410383163 rs1434025797 |
470 | M>I | No |
ClinGen gnomAD |
|
|
CA10045529 rs149967454 |
470 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410383170 rs1198551227 |
471 | E>V | No |
ClinGen gnomAD |
|
|
CA410383175 rs1427667359 |
472 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs770342154 CA10045531 |
473 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs567940073 CA10045533 |
477 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410383221 rs1569276357 |
478 | D>E | No |
ClinGen Ensembl |
|
|
rs1306405566 CA410383214 |
478 | D>N | No |
ClinGen TOPMed |
|
|
CA10045535 rs773035780 |
479 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA10045536 rs144998592 |
479 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410383231 rs1300272499 |
480 | L>S | No |
ClinGen gnomAD |
|
|
CA10045537 rs766334123 |
482 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1278758372 CA410383267 |
485 | F>V | No |
ClinGen gnomAD |
|
|
rs1202492115 CA410383279 |
486 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 487 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765054468 CA10045558 |
489 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10045559 rs752729346 |
490 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10045560 rs758463494 |
490 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10045561 rs758463494 |
490 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10045563 rs757416134 |
492 | K>R | No |
ClinGen ExAC |
|
|
rs201490586 CA10045564 |
493 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA321613343 rs952682469 |
497 | P>L | No |
ClinGen TOPMed |
|
|
rs756977603 CA321613356 |
498 | V>M | No |
ClinGen gnomAD |
|
|
CA410383371 rs1447137726 |
499 | A>S | No |
ClinGen TOPMed |
|
|
rs1345599781 CA410383376 |
499 | A>V | No |
ClinGen TOPMed |
|
|
CA321613399 rs926470655 |
501 | F>L | No |
ClinGen gnomAD |
|
|
rs866504648 CA321613404 |
502 | M>I | No |
ClinGen Ensembl |
|
|
CA10045568 rs140304122 |
504 | R>* | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1379885842 CA410383408 |
504 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA410383421 rs1602581214 |
506 | K>* | No |
ClinGen Ensembl |
|
|
CA10045570 rs369789924 |
509 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410383451 rs1241176275 |
510 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs983900511 CA321613436 |
513 | Q>* | No |
ClinGen Ensembl |
|
|
CA10045571 rs746530162 |
513 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10045572 rs200824316 |
514 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1243062792 CA410383491 |
517 | I>V | No |
ClinGen TOPMed |
|
|
CA10045574 rs557221074 |
518 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA10045575 rs759232366 |
520 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 521 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158879040 CA410383538 |
524 | M>T | No |
ClinGen gnomAD |
|
|
rs370525148 CA10045577 |
524 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764036457 CA10045579 |
526 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs764036457 CA410383553 |
526 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10045578 rs762813472 |
526 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs199846131 CA321613478 |
527 | T>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1360998286 CA410383568 |
529 | T>P | No |
ClinGen TOPMed |
|
|
rs765817384 CA10045610 |
531 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA410383782 rs1270132256 |
531 | L>R | No |
ClinGen TOPMed |
|
|
rs1012855713 CA321616078 |
533 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 534 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10045611 rs753316206 |
534 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1246999337 CA410383841 |
535 | V>I | No |
ClinGen gnomAD |
|
|
rs756718972 COSM125279 CA10045613 |
537 | E>K | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1425655759 CA410383889 |
538 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs143437759 CA10045615 |
539 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10045614 rs143437759 |
539 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410383910 rs1354819504 |
540 | L>R | No |
ClinGen TOPMed |
|
|
CA410383935 rs1167366156 |
542 | P>S | No |
ClinGen gnomAD |
|
|
CA10045617 rs779709684 |
544 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 547 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410384014 COSM213770 rs1324452006 |
549 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA10045618 rs749047342 |
549 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA410384027 rs778256490 |
551 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10045620 rs774255552 |
551 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10045619 rs778256490 |
551 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778256490 CA321616210 |
551 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141574765 CA10045621 |
552 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1194214123 CA410384050 |
554 | K>N | No |
ClinGen TOPMed |
|
|
CA10045622 rs373298228 |
554 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1269017552 CA410384046 |
554 | K>T | No |
ClinGen gnomAD |
|
|
CA10045624 rs150892798 |
555 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10045623 rs773285023 |
555 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410384058 rs1490098178 |
556 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
CA410384057 rs1490098178 |
556 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10045625 rs766678364 |
556 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA410384078 rs201811895 |
559 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs201811895 CA10045627 |
559 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs75225742 RCV000954786 CA10045628 |
560 | M>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs75225742 COSM1031095 CA10045629 |
560 | M>T | liver endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1190336142 CA410384195 |
566 | K>M | No |
ClinGen TOPMed |
|
| TCGA novel | 566 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1463332775 CA410384207 |
567 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 567 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777753254 CA10045660 |
569 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147305658 CA10045662 |
571 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1251482372 CA410384311 |
575 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA410384319 rs140791263 |
576 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1379754203 CA410384330 |
576 | E>D | No |
ClinGen gnomAD |
|
|
CA10045665 rs140791263 |
576 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410384337 rs1478609728 |
577 | K>Q | No |
ClinGen gnomAD |
|
|
rs1363425194 CA410384341 |
577 | K>T | No |
ClinGen TOPMed |
|
|
rs1319492891 CA410384348 |
578 | S>T | No |
ClinGen TOPMed |
|
|
CA410384358 rs1176331284 |
579 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs775619717 CA10045666 |
581 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs573633074 CA10045667 |
583 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs768956002 CA10045668 |
584 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA10045669 rs376767800 |
585 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1404226873 CA410384492 |
588 | S>G | No |
ClinGen TOPMed |
|
|
CA410384498 CA410384501 rs1223957595 |
588 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762238389 CA10045671 |
589 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774519742 CA10045691 |
591 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA410384793 rs774519742 |
591 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs748534127 CA10045692 |
592 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA10045693 rs772527334 |
593 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267242641 CA410384806 |
593 | A>T | No |
ClinGen gnomAD |
1 associated diseases with O76083
[MIM: 224690]: Meier-Gorlin syndrome 1 (MGORS1)
A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269|PubMed:21358631, ECO:0000269|PubMed:21358632, ECO:0000269|PubMed:21358633}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269|PubMed:21358631, ECO:0000269|PubMed:21358632, ECO:0000269|PubMed:21358633}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for O76083
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Small GTP-binding protein domain | 5 - 159 | IPR005225 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.4.35 | Phosphoric diester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
9 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. |
| 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). |
| 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
| 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. |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3',5'-cyclic-GMP phosphodiesterase activity | Catalysis of the reaction: 3',5'-cyclic GMP + H2O = GMP + H+. |
| 3',5'-cyclic-nucleotide phosphodiesterase activity | Catalysis of the reaction: a nucleoside 3',5'-cyclic phosphate + H2O = a nucleoside 5'-phosphate. |
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cGMP catabolic process | The chemical reactions and pathways resulting in the breakdown of cyclic GMP, guanosine 3',5'-phosphate. |
| cGMP metabolic process | The chemical reactions and pathways involving cyclic GMP, guanosine 3',5'-phosphate. |
| cGMP-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via cyclic GMP (cGMP). Includes production of cGMP, and downstream effectors that further transmit the signal within the cell. |
| positive regulation of cardiac muscle hypertrophy | Any process that increases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
34 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q28156 | PDE5A | cGMP-specific 3',5'-cyclic phosphodiesterase | Bos taurus (Bovine) | SS |
| P23439 | PDE6B | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Bos taurus (Bovine) | PR |
| P52731 | PDE6C | Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' | Gallus gallus (Chicken) | PR |
| H2QL32 | PDE9A | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Pan troglodytes (Chimpanzee) | PR |
| Q9VJ79 | Pde11 | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11 | Drosophila melanogaster (Fruit fly) | SS |
| Q9W4T4 | dnc | 3',5'-cyclic-AMP phosphodiesterase, isoform I | Drosophila melanogaster (Fruit fly) | SS |
| O60658 | PDE8A | High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A | Homo sapiens (Human) | PR |
| P27815 | PDE4A | cAMP-specific 3',5'-cyclic phosphodiesterase 4A | Homo sapiens (Human) | EV SS |
| Q07343 | PDE4B | cAMP-specific 3',5'-cyclic phosphodiesterase 4B | Homo sapiens (Human) | EV SS |
| Q08493 | PDE4C | cAMP-specific 3',5'-cyclic phosphodiesterase 4C | Homo sapiens (Human) | EV SS |
| Q08499 | PDE4D | cAMP-specific 3',5'-cyclic phosphodiesterase 4D | Homo sapiens (Human) | EV |
| P54750 | PDE1A | Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A | Homo sapiens (Human) | PR |
| Q9Y233 | PDE10A | cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A | Homo sapiens (Human) | PR |
| Q9HCR9 | PDE11A | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A | Homo sapiens (Human) | SS |
| P35913 | PDE6B | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Homo sapiens (Human) | PR |
| P51160 | PDE6C | Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' | Homo sapiens (Human) | PR |
| O76074 | PDE5A | cGMP-specific 3',5'-cyclic phosphodiesterase | Homo sapiens (Human) | EV |
| P23440 | Pde6b | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Mus musculus (Mouse) | PR |
| O89084 | Pde4a | 3',5'-cyclic-AMP phosphodiesterase 4A | Mus musculus (Mouse) | SS |
| Q8CG03 | Pde5a | cGMP-specific 3',5'-cyclic phosphodiesterase | Mus musculus (Mouse) | SS |
| Q8CA95 | Pde10a | cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A | Mus musculus (Mouse) | PR |
| P0C1Q2 | Pde11a | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A | Mus musculus (Mouse) | SS |
| Q3UEI1 | Pde4c | cAMP-specific 3',5'-cyclic phosphodiesterase 4C | Mus musculus (Mouse) | PR |
| Q01063 | Pde4d | 3',5'-cyclic-AMP phosphodiesterase 4D | Mus musculus (Mouse) | SS |
| O70628 | Pde9a | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Mus musculus (Mouse) | PR |
| P14646 | Pde4b | cAMP-specific 3',5'-cyclic phosphodiesterase 4B | Rattus norvegicus (Rat) | SS |
| Q8VID6 | Pde11a | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A | Rattus norvegicus (Rat) | SS |
| O54735 | Pde5a | cGMP-specific 3',5'-cyclic phosphodiesterase | Rattus norvegicus (Rat) | SS |
| P14644 | Pde4c | cAMP-specific 3',5'-cyclic phosphodiesterase 4C | Rattus norvegicus (Rat) | PR |
| P54748 | Pde4a | 3',5'-cyclic-AMP phosphodiesterase 4A | Rattus norvegicus (Rat) | SS |
| Q9QYJ6 | Pde10a | cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A | Rattus norvegicus (Rat) | PR |
| P14270 | Pde4d | cAMP-specific 3',5'-cyclic phosphodiesterase 4D | Rattus norvegicus (Rat) | PR |
| Q8QZV1 | Pde9a | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Rattus norvegicus (Rat) | PR |
| Q22000 | pde-4 | Probable 3',5'-cyclic phosphodiesterase pde-4 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSGSSSYRP | KAIYLDIDGR | IQKVIFSKYC | NSSDIMDLFC | IATGLPRNTT | ISLLTTDDAM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VSIDPTMPAN | SERTPYKVRP | VAIKQLSAGV | EDKRTTSRGQ | SAERPLRDRR | VVGLEQPRRE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GAFESGQVEP | RPREPQGCYQ | EGQRIPPERE | ELIQSVLAQV | AEQFSRAFKI | NELKAEVANH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LAVLEKRVEL | EGLKVVEIEK | CKSDIKKMRE | ELAARSSRTN | CPCKYSFLDN | HKKLTPRRDV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PTYPKYLLSP | ETIEALRKPT | FDVWLWEPNE | MLSCLEHMYH | DLGLVRDFSI | NPVTLRRWLF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CVHDNYRNNP | FHNFRHCFCV | AQMMYSMVWL | CSLQEKFSQT | DILILMTAAI | CHDLDHPGYN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NTYQINARTE | LAVRYNDISP | LENHHCAVAF | QILAEPECNI | FSNIPPDGFK | QIRQGMITLI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LATDMARHAE | IMDSFKEKME | NFDYSNEEHM | TLLKMILIKC | CDISNEVRPM | EVAEPWVDCL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LEEYFMQSDR | EKSEGLPVAP | FMDRDKVTKA | TAQIGFIKFV | LIPMFETVTK | LFPMVEEIML |
| 550 | 560 | 570 | 580 | 590 | |
| QPLWESRDRY | EELKRIDDAM | KELQKKTDSL | TSGATEKSRE | RSRDVKNSEG | DCA |