P42892
PR
Gene name |
ECE1 |
Protein name |
Endothelin-converting enzyme 1 |
Names |
ECE-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1889 |
EC number |
3.4.24.71: Metalloendopeptidases |
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
2 structures for P42892
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3DWB | X-ray | 238 A | A | 101-770 | PDB |
| AF-P42892-F1 | Predicted | AlphaFoldDB |
526 variants for P42892
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000736043 rs765763704 CA665270 |
356 | F>C | Aganglionic megacolon [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs200894751 CA664992 RCV000736044 |
627 | R>W | Aganglionic megacolon [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs3026906 CA120130 RCV000009704 VAR_026747 |
754 | R>C | Hirschsprung disease, cardiac defects, and autonomic dysfunction HCAD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA338877026 rs1217585537 |
2 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA338877005 rs1282231771 COSM1601646 |
4 | V>M | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA338876986 rs1274718030 |
5 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA338876982 rs1274718030 |
5 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA338876996 rs1346330679 |
5 | W>R | No |
ClinGen gnomAD |
|
|
rs1222090175 CA338876951 |
8 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1222090175 CA338876952 |
8 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA338876925 rs1220058651 |
11 | A>T | No |
ClinGen TOPMed |
|
|
CA19042273 rs1024143446 |
15 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA338876879 rs1398978758 |
15 | A>V | No |
ClinGen gnomAD |
|
|
rs750050705 CA665637 |
18 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs375005204 CA665635 |
20 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA665633 rs768002981 |
21 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs759545552 CA665632 |
23 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182348444 CA338876613 |
23 | R>W | No |
ClinGen gnomAD |
|
|
CA338876593 rs1380915746 |
25 | T>M | No |
ClinGen TOPMed |
|
|
CA665630 rs771309497 |
27 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 28 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291635266 CA338876571 |
28 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA338876561 rs1228517753 |
28 | E>V | No |
ClinGen gnomAD |
|
|
rs201568521 CA19042093 |
29 | E>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA338876541 rs1236651690 |
30 | D>A | No |
ClinGen TOPMed |
|
|
rs1312273691 CA338876527 |
31 | L>P | No |
ClinGen gnomAD |
|
|
CA665628 rs773541282 |
32 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1330534382 CA338876510 |
33 | D>N | No |
ClinGen gnomAD |
|
|
CA338876479 rs1351373810 |
35 | L>R | No |
ClinGen gnomAD |
|
|
CA665623 rs746535654 |
38 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1441571748 CA338876412 |
40 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1177108080 CA338876384 |
41 | Y>* | No |
ClinGen gnomAD |
|
|
rs982755444 CA19042021 |
41 | Y>C | No |
ClinGen TOPMed |
|
|
rs1242919033 CA338876376 |
42 | P>A | No |
ClinGen TOPMed |
|
|
rs757886418 CA665621 |
42 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA665619 rs778533896 |
43 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA665620 rs750133447 |
43 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338876353 rs1289068792 |
44 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs142532754 CA19041990 |
44 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142532754 CA665618 |
44 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338876349 rs1289068792 |
44 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767929865 CA665616 |
45 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA338875614 rs1569629127 |
48 | N>T | No |
ClinGen Ensembl |
|
|
rs1315810834 CA338875603 |
49 | F>L | No |
ClinGen gnomAD |
|
|
CA19035143 rs1032735120 |
50 | H>R | No |
ClinGen Ensembl |
|
|
rs748739216 CA665565 |
51 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs550640315 CA338875580 |
53 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA665563 rs370944191 |
53 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA665564 rs550640315 |
53 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338875570 rs1165852404 |
54 | S>R | No |
ClinGen gnomAD |
|
|
rs1395495242 CA338875553 |
57 | R>G | No |
ClinGen gnomAD |
|
|
rs1569628855 CA338875544 |
58 | C>G | No |
ClinGen Ensembl |
|
|
rs199666282 CA665559 COSM903908 |
62 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs532145305 CA665560 |
62 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757362540 CA665557 |
63 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA665556 rs200605491 |
64 | Q>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs376064396 CA338875478 |
68 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA665555 rs376064396 |
68 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338875479 rs1049897620 |
68 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs752883064 CA665553 |
70 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs756290898 CA665554 |
70 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs76181339 CA665552 |
71 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1292699309 CA338875460 |
72 | L>S | No |
ClinGen gnomAD |
|
|
CA665551 rs199521200 |
72 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751581012 CA665548 |
73 | V>G | No |
ClinGen ExAC |
|
|
rs1553364718 CA665549 |
73 | V>M | No |
ClinGen Ensembl |
|
|
CA665547 rs766159532 |
74 | V>G | No |
ClinGen ExAC |
|
|
CA338875445 rs1209518696 |
75 | L>F | No |
ClinGen TOPMed |
|
|
rs772546036 CA665545 |
76 | L>V | No |
ClinGen ExAC |
|
|
rs1357347111 CA338875437 |
77 | A>T | No |
ClinGen TOPMed |
|
|
CA665544 rs769399942 |
77 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298325424 CA338875426 |
79 | G>R | No |
ClinGen TOPMed |
|
|
rs776410903 CA665542 |
81 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338875413 rs1368582485 |
81 | V>M | No |
ClinGen TOPMed |
|
|
CA665541 rs772632524 |
85 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs779491709 CA665539 |
86 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1392440043 CA338875372 |
88 | G>D | No |
ClinGen TOPMed |
|
|
rs771296480 CA665538 |
88 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1558409153 CA338875368 |
89 | I>V | No |
ClinGen Ensembl |
|
|
rs749420169 CA665537 |
90 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381599992 CA338875343 |
92 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 94 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19032236 rs140520259 |
94 | R>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1221990839 CA338875309 |
95 | S>F | No |
ClinGen gnomAD |
|
|
rs755143874 CA665512 |
95 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342000579 CA338875306 |
96 | P>S | No |
ClinGen gnomAD |
|
|
rs746849785 CA665511 |
97 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779764565 CA665510 |
98 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA665508 rs750394604 |
99 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA338875282 rs1355262651 |
100 | L>P | No |
ClinGen TOPMed |
|
|
CA665506 rs565366984 |
102 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA665505 rs753353105 |
103 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1466947729 CA338875241 |
106 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760287456 CA665503 |
113 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs775183569 CA665502 |
113 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA338875186 rs1240419654 |
115 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA338875176 rs1569597347 |
116 | D>A | No |
ClinGen Ensembl |
|
|
rs1186034041 CA338875179 |
116 | D>N | No |
ClinGen gnomAD |
|
|
CA665500 rs763367806 |
118 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA338875155 rs1569597289 |
119 | V>G | No |
ClinGen Ensembl |
|
|
rs773710061 CA665499 |
120 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA338875153 rs1569597240 |
120 | D>H | No |
ClinGen Ensembl |
|
|
rs1162707316 CA338875137 COSM385293 |
122 | C>Y | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1273318797 CA338875129 |
123 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA665497 rs748248375 |
129 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1569597023 CA338875027 |
137 | N>T | No |
ClinGen Ensembl |
|
|
CA665495 rs142092671 |
138 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747255132 CA665494 |
139 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs966524994 CA19032182 |
140 | P>L | No |
ClinGen TOPMed |
|
|
CA338875001 rs1448232717 |
141 | D>E | No |
ClinGen TOPMed |
|
|
rs780320930 CA665493 |
144 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA338874978 rs1409599347 |
145 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA665492 rs758133161 |
145 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 145 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338874962 rs1558404178 |
147 | G>A | No |
ClinGen Ensembl |
|
|
CA665490 rs779020235 |
150 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA338874908 rs1481851362 |
155 | H>N | No |
ClinGen gnomAD |
|
|
rs753798332 CA665488 |
155 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA338874900 rs1204185559 |
156 | N>D | No |
ClinGen gnomAD |
|
|
CA665486 rs755634646 |
158 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs144878231 CA19032164 |
160 | I>V | No |
ClinGen ESP |
|
|
rs1558404109 CA338874863 |
161 | K>R | No |
ClinGen Ensembl |
|
|
CA665484 rs767127514 |
162 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA665483 rs763236315 |
163 | L>V | No |
ClinGen ExAC gnomAD |
|
| rs1297396104 | 164 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 164 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 165 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754619069 CA665464 |
168 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338874515 rs1199784999 |
170 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs762162826 CA665461 |
171 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19022994 rs779283812 |
172 | S>N | No |
ClinGen Ensembl |
|
|
CA665460 RCV000911051 rs147475863 |
173 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs764604435 CA665459 |
177 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs760693307 CA665458 |
178 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1263522980 CA338874460 |
178 | A>V | No |
ClinGen gnomAD |
|
|
rs1027475921 CA19022989 |
179 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA665454 rs774704228 |
181 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1362728243 CA338874435 |
182 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 182 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19022983 rs991574666 COSM903861 |
183 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs150644074 CA665453 COSM183015 |
183 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150644074 CA19022972 |
183 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 184 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338874411 rs1408859614 |
186 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA338874412 rs1408859614 |
186 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA19022956 rs903416615 |
188 | E>G | No |
ClinGen Ensembl |
|
|
CA665451 rs777581287 |
188 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431178488 CA338874364 |
190 | R>S | No |
ClinGen gnomAD |
|
|
rs142988424 CA665450 |
191 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1428643484 COSM183014 CA338874356 |
192 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs780793461 CA665448 |
193 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1402527773 CA338874339 |
194 | L>F | No |
ClinGen Ensembl |
|
|
rs1184779846 CA338874309 |
198 | P>L | No |
ClinGen gnomAD |
|
|
CA665447 rs754461744 |
200 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs751269183 CA338874291 |
201 | E>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751269183 CA665446 |
201 | E>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1458911995 CA338874276 |
203 | I>T | No |
ClinGen TOPMed |
|
|
CA338874238 rs1558393748 |
207 | G>E | No |
ClinGen Ensembl |
|
|
CA338874231 rs1361637237 |
208 | G>A | No |
ClinGen gnomAD |
|
|
rs1316409566 CA338874199 |
213 | G>S | No |
ClinGen gnomAD |
|
|
rs758007154 CA665427 |
217 | K>E | No |
ClinGen ExAC |
|
|
CA338874135 rs1214976497 |
221 | Q>H | No |
ClinGen TOPMed |
|
|
CA338874128 rs1558393672 |
222 | D>V | No |
ClinGen Ensembl |
|
|
rs1350645256 CA338874122 |
223 | T>N | No |
ClinGen TOPMed |
|
|
CA338874125 rs1573978474 |
223 | T>P | No |
ClinGen Ensembl |
|
|
rs778253198 CA665425 |
225 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281711039 CA338874110 |
225 | Q>R | No |
ClinGen TOPMed |
|
|
rs551629069 CA665424 |
228 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338874095 rs1573978428 |
228 | T>P | No |
ClinGen Ensembl |
|
|
rs1395366082 CA338874089 |
229 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA338874088 rs1395366082 |
229 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1229153923 CA338874069 |
231 | Y>* | No |
ClinGen TOPMed |
|
|
CA338874075 rs1272650569 |
231 | Y>H | No |
ClinGen TOPMed |
|
|
rs1305763532 COSM1338878 CA338874066 |
232 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA19022216 rs928220018 |
232 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| rs768241100 | 239 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755120415 CA665421 |
240 | Y>C | No |
ClinGen ExAC |
|
|
CA665419 rs751637028 |
243 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA338873990 rs1182290606 |
244 | D>N | No |
ClinGen gnomAD |
|
|
CA665416 rs773284016 |
245 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA338873955 rs1490876826 |
249 | N>H | No |
ClinGen gnomAD |
|
|
CA665415 rs765136489 |
249 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19022195 COSM109976 rs142666529 |
250 | S>C | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs761507145 CA665414 |
251 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19022182 rs768531939 |
252 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA665412 rs768531939 |
252 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338873929 rs1558393442 |
253 | I>F | No |
ClinGen Ensembl |
|
|
rs866187375 CA19021563 |
259 | G>D | No |
ClinGen Ensembl |
|
|
CA338873863 rs1180021179 |
261 | G>A | No |
ClinGen TOPMed |
|
|
CA338873852 rs1243917410 |
263 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA665382 rs750422881 |
264 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338873844 rs750422881 |
264 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202115507 CA338873835 |
266 | D>H | No |
ClinGen TOPMed |
|
|
CA338873815 rs1267243541 |
268 | Y>F | No |
ClinGen gnomAD |
|
|
CA338873809 rs1323298614 |
269 | L>P | No |
ClinGen TOPMed |
|
|
CA665377 rs201107391 |
273 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA665375 rs767295923 |
275 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338873741 rs1247566799 |
277 | V>M | No |
ClinGen TOPMed |
|
|
CA665337 rs780895099 |
280 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393996574 CA338873688 |
285 | M>T | No |
ClinGen TOPMed |
|
|
rs754787083 CA665336 |
286 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA665334 rs146875784 |
287 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA665335 rs751515698 |
287 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1461389134 CA338873658 |
290 | K>R | No |
ClinGen TOPMed |
|
|
CA665332 rs145311594 |
293 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761609623 CA665330 |
294 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs372050311 CA665327 |
295 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372050311 CA665328 |
295 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs879532313 CA19020866 |
297 | E>K | No |
ClinGen gnomAD |
|
|
CA338873614 rs1421166399 |
298 | E>K | No |
ClinGen TOPMed |
|
|
CA665325 rs771381721 |
298 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA19020865 rs759599337 |
299 | A>T | No |
ClinGen Ensembl |
|
|
CA338873600 rs1251661756 |
300 | I>L | No |
ClinGen TOPMed |
|
|
CA665323 rs368124166 |
301 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA665324 rs139716196 |
301 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1294605433 CA338873589 |
302 | P>L | No |
ClinGen TOPMed |
|
|
CA665322 rs372239142 |
304 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359534635 CA338873563 |
305 | Q>H | No |
ClinGen TOPMed |
|
|
rs748423934 CA665321 |
307 | I>V | No |
ClinGen ExAC |
|
|
CA338873524 rs1313819749 COSM1295866 |
311 | E>Q | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
COSM1501039 CA19020857 rs867547949 |
312 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA338873488 rs905764705 |
316 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs746759831 CA665318 |
318 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs140791949 CA665316 |
321 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA665315 rs750364552 |
323 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338873443 rs750364552 |
323 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338873438 rs1346249522 |
324 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA665314 rs778625647 |
324 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756824716 CA665313 |
325 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA338873416 rs1431030849 |
327 | E>D | No |
ClinGen gnomAD |
|
|
rs753439931 CA665312 |
328 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766664507 CA665311 |
330 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19020825 rs759843917 |
330 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA19020820 rs900321646 |
332 | H>R | No |
ClinGen TOPMed |
|
|
rs1187690624 CA338873386 |
332 | H>Y | No |
ClinGen gnomAD |
|
|
CA19020818 rs556841826 |
334 | V>M | No |
ClinGen 1000Genomes |
|
|
rs368339350 CA665309 |
335 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1022920903 CA19020805 |
335 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA338873368 rs368339350 |
335 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1573973642 CA338873363 |
336 | A>P | No |
ClinGen Ensembl |
|
|
rs1200768339 CA338873356 |
337 | A>P | No |
ClinGen TOPMed |
|
|
rs1573973606 CA338873348 |
338 | E>G | No |
ClinGen Ensembl |
|
|
CA338873352 rs1234219477 |
338 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
VAR_011972 RCV000253112 CA665281 rs1076669 |
341 | T>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1573961618 CA338872390 |
341 | T>P | No |
ClinGen Ensembl |
|
|
rs920653116 CA19015133 |
343 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1410381302 CA338872374 |
343 | A>V | No |
ClinGen TOPMed |
|
|
CA338872371 rs1395499514 |
344 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA19015124 rs370657215 |
345 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370657215 CA665279 |
345 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749145099 CA665277 |
350 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA665276 rs777387828 |
352 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA338872310 rs1266510389 |
353 | N>S | No |
ClinGen gnomAD |
|
|
CA665274 rs139326467 |
354 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA665273 rs780754861 |
354 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1218044825 CA338872299 |
355 | I>T | No |
ClinGen gnomAD |
|
|
rs376773112 CA665272 |
355 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338872286 rs1573961467 |
357 | Y>S | No |
ClinGen Ensembl |
|
|
rs199950512 CA665268 |
359 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 361 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA665265 rs775871729 |
362 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA665264 rs563806923 |
362 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774332009 CA665262 |
365 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA665261 rs770607263 |
367 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19015022 rs200923532 |
369 | V>I | No |
ClinGen Ensembl |
|
|
CA338872188 rs1180149882 |
372 | K>E | No |
ClinGen gnomAD |
|
|
rs773015986 CA665259 |
373 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs147329832 CA665258 |
374 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs747598133 CA665257 |
377 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA338872150 rs1262870103 |
377 | Q>R | No |
ClinGen gnomAD |
|
|
rs780843048 CA665256 |
380 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs754584823 CA665255 |
381 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA665253 rs779392543 |
386 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19014977 rs779392543 |
386 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338871962 rs1415899096 |
392 | N>K | No |
ClinGen TOPMed |
|
|
rs574233632 CA665230 |
392 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246576364 CA338871925 |
394 | M>I | No |
ClinGen gnomAD |
|
|
rs148978867 CA665229 |
395 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA665228 RCV000938857 rs145301395 |
397 | N>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1464130662 CA338871880 |
398 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA338871874 rs1198273203 |
398 | L>P | No |
ClinGen gnomAD |
|
|
CA338871863 rs1340838345 |
399 | V>A | No |
ClinGen gnomAD |
|
|
rs998826249 CA19013238 |
399 | V>M | No |
ClinGen Ensembl |
|
|
CA665226 rs751807839 |
400 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372113894 CA665227 COSM183012 |
400 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA665225 rs766451765 |
403 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs765048982 CA665222 |
408 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475764621 CA338871734 |
409 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA19013197 rs904541289 COSM903801 |
409 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1475764621 CA338871736 |
409 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774735658 CA665219 |
414 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338871629 rs760122134 |
416 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA338871631 rs1208771201 |
416 | K>R | No |
ClinGen TOPMed |
|
|
CA665217 rs775232546 |
417 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA665215 rs544083697 |
418 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771586615 CA665216 |
418 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA665214 rs778052178 |
419 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1007635073 CA19013174 |
421 | M>I | No |
ClinGen Ensembl |
|
|
rs1184947611 CA338871599 |
421 | M>V | No |
ClinGen gnomAD |
|
|
rs1306019801 CA338871574 |
424 | T>S | No |
ClinGen TOPMed |
|
|
rs748727619 CA665212 |
425 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs777297917 CA665191 |
430 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1227922518 CA338870916 |
430 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769244541 CA665190 |
431 | R>C | No |
ClinGen ExAC |
|
|
CA338870889 rs1295873616 |
431 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1407496343 CA338870836 |
434 | F>V | No |
ClinGen TOPMed |
|
|
CA338870799 rs576885853 |
435 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA665189 rs747518100 |
436 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412319296 CA338870774 |
437 | S>G | No |
ClinGen gnomAD |
|
|
rs1157941315 CA338870766 |
437 | S>N | No |
ClinGen gnomAD |
|
|
rs780046573 CA665188 |
440 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA338870647 rs1416472899 |
442 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA338870651 rs1416472899 |
442 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs146655154 CA665185 |
449 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338870473 rs1244865564 |
450 | M>I | No |
ClinGen gnomAD |
|
|
rs1465166648 CA338870403 |
455 | T>A | No |
ClinGen gnomAD |
|
|
rs1023309311 CA19008492 |
457 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756058697 CA665181 |
458 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA665179 rs568611748 |
459 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000514478 rs141146885 RCV000245427 CA665177 |
462 | S>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA665176 rs766077559 |
463 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1425304733 CA338869603 |
464 | A>G | No |
ClinGen gnomAD |
|
|
CA338869604 rs1425304733 |
464 | A>V | No |
ClinGen gnomAD |
|
|
COSM169040 rs750088524 CA665155 |
466 | E>K | Variant assessed as Somatic; 0.0002798 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA338869573 rs764433117 COSM310795 |
469 | L>P | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs764433117 CA19007565 |
469 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA665154 rs764433117 |
469 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1015537846 CA19007570 |
469 | L>V | No |
ClinGen gnomAD |
|
|
rs868721293 CA19007562 |
470 | E>K | No |
ClinGen Ensembl |
|
|
CA19007561 rs950720108 |
471 | I>V | No |
ClinGen Ensembl |
|
|
CA338869555 rs1418186486 |
472 | K>R | No |
ClinGen TOPMed |
|
|
CA665153 rs761042440 |
474 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 475 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323868698 CA338869538 |
475 | F>I | No |
ClinGen gnomAD |
|
|
CA338869507 rs1558375381 |
478 | S>R | No |
ClinGen Ensembl |
|
|
rs144737209 CA665149 |
482 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1309342004 CA338869478 |
483 | K>R | No |
ClinGen gnomAD |
|
|
CA338869471 COSM244186 rs1437251251 |
484 | W>* | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1164820430 CA338869473 |
484 | W>R | No |
ClinGen gnomAD |
|
|
rs770981218 CA665148 |
488 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1573945428 CA338869433 |
489 | T>S | No |
ClinGen Ensembl |
|
|
COSM903800 CA665147 rs140735120 |
490 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs769493597 CA665145 |
493 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA665142 rs754985981 |
494 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA665141 rs754985981 |
494 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs901534097 CA19007524 |
495 | E>G | No |
ClinGen TOPMed |
|
|
rs901534097 CA338869378 |
495 | E>V | No |
ClinGen TOPMed |
|
|
CA338869196 rs1438513839 |
498 | D>G | No |
ClinGen gnomAD |
|
|
CA338869206 rs1300473063 |
498 | D>N | No |
ClinGen gnomAD |
|
|
CA338869178 rs1390552396 |
499 | A>V | No |
ClinGen gnomAD |
|
|
CA338869118 rs1399078316 |
503 | M>I | No |
ClinGen TOPMed |
|
|
CA665117 rs756981559 |
506 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA338869054 rs1457979722 |
508 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 511 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753417289 CA665116 |
513 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA665115 rs767988698 |
514 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479031193 CA338868948 |
515 | E>K | No |
ClinGen gnomAD |
|
|
CA665113 rs530903496 |
517 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA665112 rs187474823 |
519 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338868824 rs1160239300 |
521 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA338868826 rs1160239300 |
521 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1558374347 CA338868833 |
521 | N>Y | No |
ClinGen Ensembl |
|
|
CA339256232 rs1341242220 |
524 | T>A | No |
ClinGen gnomAD |
|
|
rs1312384389 CA339256228 |
524 | T>I | No |
ClinGen gnomAD |
|
|
rs750883434 CA665090 |
527 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1372994372 CA339256211 |
527 | P>L | No |
ClinGen gnomAD |
|
|
rs972354666 CA19474625 |
534 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs941927081 CA19474624 |
535 | M>L | No |
ClinGen gnomAD |
|
|
rs941927081 CA339256159 |
535 | M>V | No |
ClinGen gnomAD |
|
|
CA665089 rs576793760 |
536 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373422349 CA665088 |
536 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA19474622 rs576793760 |
536 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339256149 rs1339299303 |
537 | F>L | No |
ClinGen TOPMed |
|
|
CA665087 rs776926337 |
539 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764370937 CA665086 |
540 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs775473249 CA339256102 |
543 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA665084 rs775473249 |
543 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA339256092 rs1384387359 |
545 | T>P | No |
ClinGen TOPMed |
|
|
CA339256081 rs1336932629 |
546 | A>V | No |
ClinGen TOPMed |
|
|
CA19474621 rs772162355 |
547 | D>Y | No |
ClinGen Ensembl |
|
|
CA19474620 rs1001039682 |
548 | Q>* | No |
ClinGen TOPMed |
|
|
CA665081 rs774087220 |
550 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1410331916 CA339256060 |
550 | R>W | No |
ClinGen TOPMed |
|
|
CA19474619 rs558153433 |
551 | K>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1357369882 CA339256044 |
552 | A>D | No |
ClinGen gnomAD |
|
|
rs138566481 CA665079 |
554 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA19474617 rs1020603902 |
556 | D>N | No |
ClinGen TOPMed |
|
|
rs1429739128 CA339255979 |
559 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339255976 rs1453649899 |
560 | M>V | No |
ClinGen gnomAD |
|
|
rs1261875526 CA339255957 |
562 | P>L | No |
ClinGen gnomAD |
|
|
rs867419212 CA19473668 |
564 | M>I | No |
ClinGen Ensembl |
|
|
rs747864026 CA665057 |
564 | M>T | No |
ClinGen ExAC |
|
|
rs1466448166 CA339255929 |
567 | A>T | No |
ClinGen gnomAD |
|
|
CA339255920 rs1261503215 |
568 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1281432251 CA339255896 |
571 | P>L | No |
ClinGen gnomAD |
|
|
CA339255899 rs1315192051 |
571 | P>S | No |
ClinGen gnomAD |
|
|
rs779304634 CA665053 |
575 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs370486935 CA665052 |
577 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1687144 CA339255841 rs1287909420 |
579 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA339255843 rs1287909420 |
579 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA665050 rs778063721 |
580 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA19473658 rs922597895 |
580 | A>V | No |
ClinGen Ensembl |
|
|
CA665048 rs752979342 |
581 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA19473655 rs3026902 |
583 | L>Q | No |
ClinGen Ensembl |
|
|
CA19473653 rs867027219 |
584 | Q>H | No |
ClinGen Ensembl |
|
|
CA339255811 rs1170301653 |
585 | A>S | No |
ClinGen gnomAD |
|
|
rs112166990 CA19473652 |
585 | A>V | No |
ClinGen Ensembl |
|
|
rs147818649 CA19473649 |
590 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
COSM1204876 CA339255779 rs1279843605 |
590 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs147818649 CA19473650 |
590 | R>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA339255776 rs1186146622 |
591 | S>P | No |
ClinGen gnomAD |
|
|
CA339255762 rs1239302314 |
593 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 594 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778364115 CA665030 |
595 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1415785881 CA339255726 |
597 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 603 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339255685 rs1250393281 |
603 | V>I | No |
ClinGen gnomAD |
|
|
CA339255678 rs375453974 |
604 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375453974 CA665027 |
604 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA665025 rs751795607 |
605 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 606 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs932036759 CA19473527 |
607 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs766157579 CA665024 |
607 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1252004506 CA339255604 |
615 | D>G | No |
ClinGen Ensembl |
|
|
rs760171613 CA339255569 |
618 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760171613 CA339255570 |
618 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760171613 CA664997 |
618 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339255571 rs1243553784 |
618 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775024738 CA664996 |
620 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs773764142 CA339255531 |
623 | D>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1338848 rs894874834 CA19473180 |
624 | G>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1344037386 CA339255509 |
627 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1226812178 CA339255506 |
628 | P>T | No |
ClinGen gnomAD |
|
|
CA339255496 rs1228447005 |
629 | W>* | No |
ClinGen gnomAD |
|
|
rs111968473 CA19473177 |
631 | K>R | No |
ClinGen gnomAD |
|
|
CA339255462 rs1234488970 |
633 | S>L | No |
ClinGen gnomAD |
|
|
CA339255455 rs1316358496 COSM903796 |
635 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs747064522 CA664988 |
639 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA339255419 rs780170539 |
640 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA664987 rs780170539 |
640 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA664986 rs772321885 |
640 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339255418 rs772321885 |
640 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19473170 rs963835727 |
642 | T>I | No |
ClinGen TOPMed |
|
|
rs756977201 CA664983 |
643 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA664984 COSM1473397 rs778746689 |
643 | E>K | Variant assessed as Somatic; 4.621e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA339255388 rs777714423 |
645 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1204878 rs777714423 CA664981 |
645 | M>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs755608942 CA664980 |
646 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 648 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA664979 rs752287683 |
650 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1558365677 CA339255348 |
650 | S>N | No |
ClinGen Ensembl |
|
|
CA339255347 rs1273474217 |
650 | S>R | No |
ClinGen gnomAD |
|
|
rs370114123 CA664978 |
651 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1452632235 CA339255331 |
652 | Y>* | No |
ClinGen TOPMed |
|
|
rs140832903 CA664976 COSM1320483 |
654 | V>M | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs367812436 CA664973 CA664971 COSM1659933 |
656 | G>R | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs367812436 CA664972 |
656 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA664969 rs145351275 |
658 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1409726222 CA339255293 |
659 | V>M | No |
ClinGen gnomAD |
|
|
rs201622078 CA664965 |
662 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201237429 CA664966 |
662 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339255257 rs1416542814 |
664 | T>I | No |
ClinGen gnomAD |
|
|
rs780918973 CA664961 |
670 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 670 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751274615 CA664959 |
671 | D>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1733869 COSM1733870 CA339255217 rs1335658413 |
671 | D>N | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs762116179 CA664957 |
673 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1376227095 CA339255202 |
673 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1442020040 CA339255180 |
676 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs185424269 CA664956 |
677 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA19473150 rs763475701 |
678 | A>V | No |
ClinGen Ensembl |
|
|
CA339255159 rs144860890 |
680 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775907044 CA664953 |
680 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144860890 CA664954 |
680 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1242801015 CA339255130 |
683 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 683 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339255103 rs1178237730 |
686 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs369348578 CA664929 |
687 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1283066908 CA339255075 |
690 | G>R | No |
ClinGen gnomAD |
|
|
CA664925 rs746922795 |
692 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs757779113 CA664923 |
694 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA339255020 rs1433951327 |
699 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA664916 rs755534068 |
706 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 707 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752053288 CA664915 |
709 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA339254896 rs1372742379 |
715 | C>S | No |
ClinGen gnomAD |
|
|
CA19472299 rs139908546 |
717 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA664895 rs758540578 |
718 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA664894 rs757207956 |
718 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1444877110 CA339254866 |
720 | P>R | No |
ClinGen gnomAD |
|
|
CA664892 rs762186082 |
724 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA664891 rs754109847 |
725 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763992641 CA664890 |
726 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs760495401 CA664889 |
728 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA339254809 rs1573921249 |
729 | T>P | No |
ClinGen Ensembl |
|
|
rs759491752 CA664886 |
730 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 731 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339254789 rs1573921221 |
732 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 735 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19472290 rs903413799 |
736 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs372891026 CA664883 |
736 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142918103 CA339254752 |
738 | R>G | No |
ClinGen ESP gnomAD |
|
|
rs777351184 CA19472287 |
738 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA664882 rs777351184 |
738 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142918103 CA19472289 |
738 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA339254744 rs1306855041 |
740 | I>V | No |
ClinGen gnomAD |
|
|
rs1442794168 CA339254737 |
741 | G>S | No |
ClinGen gnomAD |
|
|
rs1373536021 CA339254732 |
741 | G>V | No |
ClinGen gnomAD |
|
|
rs868684230 CA19472282 |
742 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 743 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 744 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1573921092 CA339254699 |
747 | K>Q | No |
ClinGen Ensembl |
|
|
rs747300304 CA664880 |
749 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1290658173 CA339254666 |
751 | E>G | No |
ClinGen gnomAD |
|
|
CA664879 COSM70562 rs374518508 |
754 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA19472280 rs780575401 |
758 | G>D | No |
ClinGen gnomAD |
|
|
CA339254616 rs1395379365 |
759 | S>A | No |
ClinGen gnomAD |
|
|
rs778929118 CA339254608 |
760 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA664877 rs778929118 |
760 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA664876 rs186453862 |
763 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA664875 rs754134273 |
763 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754134273 CA339254588 |
763 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201631426 CA664871 |
768 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1236301235 CA339254549 |
769 | V>I | No |
ClinGen gnomAD |
|
|
rs1043466955 CA19472276 |
770 | W>C | No |
ClinGen TOPMed |
1 associated diseases with P42892
[MIM: 613870]: Hirschsprung disease, cardiac defects, and autonomic dysfunction (HCAD)
A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction. {ECO:0000269|PubMed:9915973}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction. {ECO:0000269|PubMed:9915973}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.24.71 | Metalloendopeptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| intrinsic component of endosome membrane | The component of the endosome membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
| Weibel-Palade body | A large, elongated, rod-shaped secretory granule characteristic of vascular endothelial cells that contain a number of structurally and functionally distinct proteins, of which the best characterized are von Willebrand factor (VWF) and P-selectin. Weibel-Palade bodies are formed from the trans-Golgi network in a process that depends on VWF, which is densely packed in a highly organized manner, and on coat proteins that remain associated with the granules. Upon cell stimulation, regulated exocytosis releases the contained proteins to the cell surface, where they act in the recruitment of platelets and leukocytes and in inflammatory and vasoactive responses. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| endopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain. |
| metalloendopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| peptide hormone binding | Binding to a peptide with hormonal activity in animals. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| zinc ion binding | Binding to a zinc ion (Zn). |
19 GO annotations of biological process
| Name | Definition |
|---|---|
| axonogenesis involved in innervation | The neurite development process that generates a long process of a neuron, as it invades a target tissue. |
| bradykinin catabolic process | The chemical reactions and pathways resulting in the breakdown of the peptide bradykinin. |
| calcitonin catabolic process | The chemical reactions and pathways resulting in the breakdown of the peptide calcitonin. |
| ear development | The process whose specific outcome is the progression of the ear over time, from its formation to the mature structure. The ear is the sense organ in vertebrates that is specialized for the detection of sound, and the maintenance of balance. Includes the outer ear and middle ear, which collect and transmit sound waves; and the inner ear, which contains the organs of balance and (except in fish) hearing. Also includes the pinna, the visible part of the outer ear, present in some mammals. |
| embryonic digit morphogenesis | The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe. |
| embryonic heart tube development | The process whose specific outcome is the progression of the embryonic heart tube over time, from its formation to the mature structure. The heart tube forms as the heart rudiment from the heart field. |
| endothelin maturation | The process leading to the attainment of the full functional capacity of endothelin by conversion of Big-endothelin substrate into mature endothelin. |
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| hormone catabolic process | The chemical reactions and pathways resulting in the breakdown of any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. |
| peptide hormone processing | The generation of a mature peptide hormone by posttranslational processing of a prohormone. |
| pharyngeal system development | The process whose specific outcome is the progression of the pharyngeal system over time, from its formation to the mature structure. The pharyngeal system is a transient embryonic complex that is specific to vertebrates. It comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming: the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear. |
| positive regulation of receptor recycling | Any process that activates or increases the frequency, rate or extent of receptor recycling. |
| protein processing | Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. |
| regulation of systemic arterial blood pressure by endothelin | The process in which endothelin modulates the force with which blood passes through the circulatory system. Endothelin is a hormone that is released by the endothelium, and it is a vasoconstrictor. |
| regulation of vasoconstriction | Any process that modulates the frequency, rate or extent of reductions in the diameter of blood vessels. |
| semaphorin-plexin signaling pathway involved in axon guidance | Any semaphorin-plexin signaling pathway that is involved in axon guidance. |
| substance P catabolic process | The chemical reactions and pathways resulting in the breakdown of the neuropeptide substance P. |
| sympathetic neuron axon guidance | The chemotaxis process that directs the migration of a sympathetic neuron axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P78562 | PHEX | Phosphate-regulating neutral endopeptidase PHEX | Homo sapiens (Human) | PR |
| P70669 | Phex | Phosphate-regulating neutral endopeptidase PHEX | Mus musculus (Mouse) | PR |
| P0C1T0 | Mmel1 | Membrane metallo-endopeptidase-like 1 | Rattus norvegicus (Rat) | PR |
| Q22523 | nep-21 | Neprilysin-21 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRGVWPPPVS | ALLSALGMST | YKRATLDEED | LVDSLSEGDA | YPNGLQVNFH | SPRSGQRCWA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ARTQVEKRLV | VLVVLLAAGL | VACLAALGIQ | YQTRSPSVCL | SEACVSVTSS | ILSSMDPTVD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PCHDFFSYAC | GGWIKANPVP | DGHSRWGTFS | NLWEHNQAII | KHLLENSTAS | VSEAERKAQV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YYRACMNETR | IEELRAKPLM | ELIERLGGWN | ITGPWAKDNF | QDTLQVVTAH | YRTSPFFSVY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VSADSKNSNS | NVIQVDQSGL | GLPSRDYYLN | KTENEKVLTG | YLNYMVQLGK | LLGGGDEEAI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RPQMQQILDF | ETALANITIP | QEKRRDEELI | YHKVTAAELQ | TLAPAINWLP | FLNTIFYPVE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| INESEPIVVY | DKEYLEQIST | LINTTDRCLL | NNYMIWNLVR | KTSSFLDQRF | QDADEKFMEV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MYGTKKTCLP | RWKFCVSDTE | NNLGFALGPM | FVKATFAEDS | KSIATEIILE | IKKAFEESLS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TLKWMDEETR | KSAKEKADAI | YNMIGYPNFI | MDPKELDKVF | NDYTAVPDLY | FENAMRFFNF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SWRVTADQLR | KAPNRDQWSM | TPPMVNAYYS | PTKNEIVFPA | GILQAPFYTR | SSPKALNFGG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IGVVVGHELT | HAFDDQGREY | DKDGNLRPWW | KNSSVEAFKR | QTECMVEQYS | NYSVNGEPVN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GRHTLGENIA | DNGGLKAAYR | AYQNWVKKNG | AEHSLPTLGL | TNNQLFFLGF | AQVWCSVRTP |
| 730 | 740 | 750 | 760 | ||
| ESSHEGLITD | PHSPSRFRVI | GSLSNSKEFS | EHFRCPPGSP | MNPPHKCEVW |