O75052
PR
Gene name |
NOS1AP |
Protein name |
Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein |
Names |
C-terminal PDZ ligand of neuronal nitric oxide synthase protein, Nitric oxide synthase 1 adaptor protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9722 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for O75052
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O75052-F1 | Predicted | AlphaFoldDB |
351 variants for O75052
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001290108 rs1656826074 VAR_085238 |
143 | C>Y | Nephrotic syndrome, type 22 NPHS22; loss of promotion of filipodia and podosome formation and migration [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
CA204275 RCV000190226 rs796052202 |
275 | S>F | Variant assessed as Somatic; impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000190225 rs796052201 CA204273 |
426 | V>M | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1295249593 CA343464698 |
3 | S>T | No |
ClinGen gnomAD |
|
|
rs760497810 CA1215337 |
4 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA31588405 rs964924717 |
5 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 8 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 8 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553253970 RCV000586086 CA343464774 |
14 | H>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA343464784 rs1214877372 |
15 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 18 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343464832 rs1485371363 |
22 | N>K | No |
ClinGen TOPMed |
|
|
CA343464844 rs1449503877 |
24 | D>Y | No |
ClinGen gnomAD |
|
|
rs1212578730 CA343464852 |
25 | A>S | No |
ClinGen gnomAD |
|
|
CA1215339 rs776274543 |
28 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469384693 CA343464874 |
28 | H>Y | No |
ClinGen gnomAD |
|
|
CA31588434 rs867164651 |
29 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 29 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343464883 rs867164651 |
29 | G>V | No |
ClinGen gnomAD |
|
|
CA1215340 rs761661228 |
30 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1691632353 RCV001193263 |
31 | C>Y | No |
ClinVar dbSNP |
|
|
CA343464919 rs1411966946 |
34 | A>V | No |
ClinGen gnomAD |
|
|
CA1215341 rs764801253 |
35 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1259606971 CA343464951 |
37 | V>A | No |
ClinGen gnomAD |
|
|
CA1215369 rs141560292 |
37 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA343464976 rs1207434900 |
41 | D>V | No |
ClinGen gnomAD |
|
|
rs1485553225 CA343464979 |
42 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 46 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343465008 rs1259949438 |
46 | N>S | No |
ClinGen gnomAD |
|
|
rs757647988 CA1215373 |
47 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA343465039 rs1324497317 |
50 | E>D | No |
ClinGen Ensembl |
|
|
rs779389791 CA1215374 |
52 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343465058 rs1364494374 |
54 | A>T | No |
ClinGen gnomAD |
|
|
rs878883513 CA31661292 |
56 | R>C | No |
ClinGen Ensembl |
|
|
COSM97863 COSM97862 CA31661295 rs1001048433 |
56 | R>H | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs543118232 CA1215376 |
57 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA31661300 rs530681530 |
57 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA1215378 rs746991588 COSM207399 COSM207398 |
59 | R>Q | large_intestine Variant assessed as Somatic; 4.643e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs780388688 CA1215377 |
59 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373344682 CA343392091 |
60 | Y>F | No |
ClinGen gnomAD |
|
|
rs748280771 CA1215399 |
65 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31742734 rs1022885762 |
65 | K>R | No |
ClinGen TOPMed |
|
|
CA1215400 rs769708253 |
66 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs761523382 CA31742756 |
68 | K>R | No |
ClinGen Ensembl |
|
|
CA343392290 rs1465900832 |
72 | V>A | No |
ClinGen TOPMed |
|
|
CA343392306 rs1328515850 |
73 | S>N | No |
ClinGen gnomAD |
|
|
rs1363633940 CA343392331 |
74 | I>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 76 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 77 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 80 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571191811 CA343392465 |
81 | V>G | No |
ClinGen Ensembl |
|
|
CA1215402 rs749016887 |
81 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1474301019 CA343392474 |
82 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 83 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770775573 CA1215403 |
84 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343392532 rs1419039197 |
86 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 87 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1215405 rs773827552 |
89 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1215631561 CA343392604 RCV000623880 |
90 | K>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1215631561 CA343392603 |
90 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 90 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343395105 rs1261184608 |
91 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1261184608 CA343395102 |
91 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA343395121 rs1442779059 |
92 | L>F | No |
ClinGen TOPMed |
|
|
CA343395128 rs1486725581 |
92 | L>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 93 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771750757 CA1215425 |
94 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 97 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA31747042 rs1028428519 |
99 | W>G | No |
ClinGen TOPMed |
|
|
rs201591597 CA31747043 |
100 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 101 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343395413 rs1290329327 |
102 | D>A | No |
ClinGen gnomAD |
|
|
rs768300852 CA1215428 |
103 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 103 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1215429 rs41271967 RCV000886557 |
104 | S>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 115 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1215440 rs757204910 |
116 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs759642153 CA31749712 |
116 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745608624 CA1215442 |
123 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1436911756 CA343389510 |
125 | D>N | No |
ClinGen gnomAD |
|
|
rs1350082760 CA343389549 |
130 | S>N | No |
ClinGen TOPMed |
|
|
CA1215446 rs540786166 |
133 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA343389573 rs1379072910 |
133 | A>V | No |
ClinGen gnomAD |
|
|
CA31749720 rs771468647 |
134 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1215450 rs771468647 |
134 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1215451 rs759889896 |
134 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184029542 CA343389579 |
135 | D>V | No |
ClinGen gnomAD |
|
|
rs772450089 CA1215452 |
138 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343389607 rs1436525273 |
139 | N>S | No |
ClinGen TOPMed |
|
|
rs891322231 CA31749724 |
140 | I>V | No |
ClinGen Ensembl |
|
|
rs868538076 CA31749728 |
151 | K>M | No |
ClinGen Ensembl |
|
| rs958090782 | 152 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1215505 rs753277283 |
153 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1337668061 CA343390284 |
158 | V>I | No |
ClinGen gnomAD |
|
|
rs1009997506 CA31751599 |
159 | R>Q | No |
ClinGen TOPMed |
|
|
rs1251380661 CA343390297 |
160 | T>M | No |
ClinGen gnomAD |
|
|
rs1571232822 CA343390356 |
169 | H>N | No |
ClinGen Ensembl |
|
| TCGA novel | 172 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748601265 CA1215511 |
176 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1215510 rs781384451 |
176 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1215513 rs773575838 |
177 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs375970752 CA1215514 |
179 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1215515 rs771162219 |
180 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1448262420 CA343390436 |
180 | A>V | No |
ClinGen gnomAD |
|
|
rs370143137 CA1215517 |
181 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1215518 rs767540370 |
182 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760586846 CA1215520 |
183 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252053620 CA343390478 |
187 | E>K | No |
ClinGen gnomAD |
|
|
CA343390493 rs3751284 |
188 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1211897143 CA343390494 |
189 | E>K | No |
ClinGen gnomAD |
|
|
CA1215524 rs756715954 |
191 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343390523 rs1191599582 |
192 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs777690128 CA1215526 |
193 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA1215527 rs755422748 |
194 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA343390568 rs373351467 |
196 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1215528 rs373351467 |
196 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374753314 CA1215529 |
197 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1215551 rs757539904 |
199 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA343392314 rs757539904 |
199 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs370293556 CA1215552 |
200 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745870190 CA1215554 |
200 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs745870190 CA1215553 |
200 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs779813806 CA1215555 |
201 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs746933296 CA1215556 |
202 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1256290743 CA343392353 |
203 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 206 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761659403 CA1215559 |
206 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs769076770 CA1215558 |
206 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 207 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1418975346 CA343392635 |
207 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA31752880 rs185748570 |
208 | A>P | No |
ClinGen Ensembl |
|
|
CA31752881 rs192029860 |
209 | S>P | No |
ClinGen gnomAD |
|
|
rs1326804097 CA343392651 |
210 | T>A | No |
ClinGen gnomAD |
|
|
rs932270050 CA31752882 |
210 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1215562 rs762322847 |
211 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs534543713 CA1215563 |
212 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs751074040 CA1215564 |
212 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1215565 rs761241945 |
217 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1445978320 CA343392706 |
219 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1215567 rs148930944 |
220 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1215568 rs757703119 |
220 | A>V | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs938183913 CA31752884 |
221 | V>M | No |
ClinGen Ensembl |
|
|
rs750688606 CA343392731 |
223 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750688606 CA1215570 |
223 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211670730 CA343392743 |
225 | L>F | No |
ClinGen gnomAD |
|
|
CA343392764 rs1230709799 |
228 | N>S | No |
ClinGen gnomAD |
|
|
CA343392768 rs1276959366 |
229 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs758588516 CA31752885 |
230 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1215571 rs758588516 |
230 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195543968 CA343392794 |
233 | F>L | No |
ClinGen gnomAD |
|
|
rs780159734 CA1215572 |
235 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs896534914 CA31752886 |
237 | V>A | No |
ClinGen gnomAD |
|
|
CA343392831 rs1281556612 |
239 | D>H | No |
ClinGen TOPMed |
|
|
CA1215574 rs754901919 |
243 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31752890 rs887798230 |
244 | G>R | No |
ClinGen Ensembl |
|
|
CA1215576 rs557237095 |
245 | K>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs772703598 CA1215578 |
247 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1215577 rs769601853 |
247 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1215579 rs748942778 |
248 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1199035445 CA343392890 |
248 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343392896 rs1557890822 |
249 | S>F | No |
ClinGen Ensembl |
|
|
rs773899605 CA1215581 |
253 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs775178505 CA1215604 |
255 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1215605 rs762386557 COSM1689044 COSM1689043 |
256 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs749455601 CA1215607 |
257 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343393020 rs1412489147 |
259 | Q>L | No |
ClinGen TOPMed |
|
|
CA343393066 rs1415799197 |
262 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs916442656 CA31753069 |
262 | M>L | No |
ClinGen Ensembl |
|
|
CA343393061 rs1196067592 |
262 | M>T | No |
ClinGen gnomAD |
|
|
CA343393084 rs1571242627 |
264 | T>A | No |
ClinGen Ensembl |
|
|
CA1215609 rs766561531 |
265 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs751799259 CA1215610 |
265 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs759574505 CA1215611 |
267 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA343393125 rs1315923204 |
268 | R>G | No |
ClinGen gnomAD |
|
|
CA343393131 rs1359612508 |
268 | R>K | No |
ClinGen gnomAD |
|
|
rs1173089744 CA343393134 |
268 | R>S | No |
ClinGen TOPMed |
|
|
CA343393178 rs1557891631 |
272 | P>S | No |
ClinGen Ensembl |
|
|
rs41405649 CA1215613 |
273 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1353023114 CA343393201 |
273 | S>F | No |
ClinGen gnomAD |
|
|
rs41405649 CA1215614 |
273 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1243431164 CA343393237 |
276 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA343393273 rs1359054566 |
279 | P>L | No |
ClinGen gnomAD |
|
|
CA31753070 rs1046105786 |
279 | P>S | No |
ClinGen TOPMed |
|
|
CA343393302 rs1285793032 |
282 | G>C | No |
ClinGen gnomAD |
|
|
rs777638374 CA1215617 |
283 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 284 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753603051 CA1215618 |
284 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs745484162 CA1215621 |
286 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31753072 rs745484162 |
286 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1215620 rs141668480 |
286 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343393350 rs141668480 |
286 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1156689514 CA343393378 |
288 | S>Y | No |
ClinGen gnomAD |
|
|
CA1215623 rs746583542 |
291 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343393420 rs1210972736 |
291 | H>Y | No |
ClinGen gnomAD |
|
|
CA343393458 rs1394997336 |
293 | M>I | No |
ClinGen gnomAD |
|
|
CA343393446 rs1160152857 |
293 | M>L | No |
ClinGen gnomAD |
|
|
rs1334217535 CA343393461 |
294 | Q>K | No |
ClinGen gnomAD |
|
|
CA1215625 rs770264753 |
299 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA343393535 rs1571242777 |
299 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 300 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343393556 rs878860672 |
301 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA343393553 rs1309099330 |
301 | Q>L | No |
ClinGen gnomAD |
|
|
rs559078474 CA1215630 |
310 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA31753078 rs75798259 |
311 | V>G | No |
ClinGen Ensembl |
|
|
rs906676959 CA31753077 |
311 | V>M | No |
ClinGen TOPMed |
|
|
rs981522456 CA31753967 |
318 | K>R | No |
ClinGen Ensembl |
|
|
rs762794853 CA1215676 |
319 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs766244047 CA1215677 |
323 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1374539725 CA343393903 |
325 | A>T | No |
ClinGen gnomAD |
|
|
rs751421149 CA1215678 |
326 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752082506 CA1215681 |
327 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA343394173 rs1300090284 |
328 | R>W | No |
ClinGen gnomAD |
|
|
rs746408615 CA1215684 |
332 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA1215685 rs758946866 |
333 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA343394254 rs1258105177 |
334 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1258105177 CA343394258 |
334 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1217589 CA1215688 COSM1217591 rs142303407 RCV000896616 COSM1217590 |
335 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1308256354 CA343394280 |
336 | H>R | No |
ClinGen gnomAD |
|
|
CA31753969 rs908347511 |
344 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs142457157 CA31753970 |
345 | M>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA343394410 rs1372122578 |
345 | M>R | No |
ClinGen TOPMed |
|
|
rs878914773 CA31753971 |
346 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA343394421 rs1231831037 |
346 | L>R | No |
ClinGen Ensembl |
|
|
rs1328763471 CA343394458 |
349 | I>V | No |
ClinGen TOPMed |
|
|
CA343394505 rs1356071911 |
353 | V>I | No |
ClinGen gnomAD |
|
|
CA31753973 rs919165893 |
354 | K>Q | No |
ClinGen TOPMed |
|
|
CA343394613 rs1367841651 |
361 | L>M | No |
ClinGen gnomAD |
|
|
CA343394670 rs1275792961 |
366 | Q>E | No |
ClinGen gnomAD |
|
|
CA343394689 rs1316683448 |
367 | N>S | No |
ClinGen gnomAD |
|
|
rs370763579 CA1215692 |
368 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1215693 rs770024717 |
369 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 371 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1215708 rs780611482 |
375 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA343394967 rs1571251072 |
378 | I>T | No |
ClinGen Ensembl |
|
|
rs1571251086 CA343394975 |
379 | T>P | No |
ClinGen Ensembl |
|
|
rs755391142 CA1215710 |
380 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342947907 CA343395009 |
381 | R>H | No |
ClinGen TOPMed |
|
|
CA1215711 rs781230593 |
382 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA343395027 rs1319748848 |
383 | G>R | No |
ClinGen gnomAD |
|
|
rs1338138423 CA343395047 |
384 | A>D | No |
ClinGen gnomAD |
|
|
rs1285234619 CA343395056 |
385 | L>P | No |
ClinGen gnomAD |
|
|
CA1215714 rs777988777 |
386 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375498479 CA1215715 |
386 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA31754119 rs777988777 |
386 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868398500 CA343395068 |
387 | V>L | No |
ClinGen gnomAD |
|
|
CA31754121 rs868398500 |
387 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770707645 CA1215716 |
389 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA343395148 rs1186830635 |
391 | P>L | No |
ClinGen gnomAD |
|
|
rs1483879517 CA343395168 |
392 | T>M | No |
ClinGen gnomAD |
|
|
rs1446269066 CA343395182 |
393 | T>I | No |
ClinGen gnomAD |
|
|
CA343395184 rs1191827794 |
394 | P>S | No |
ClinGen TOPMed |
|
|
CA343395263 rs1379410629 |
398 | D>N | No |
ClinGen gnomAD |
|
|
rs1240465587 CA343395282 |
399 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1159879216 CA343395313 |
400 | H>Q | No |
ClinGen gnomAD |
|
|
rs1419952790 CA343395304 |
400 | H>R | No |
ClinGen gnomAD |
|
|
RCV001804173 CA343395346 rs1249679104 |
402 | P>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs879224507 CA343395352 |
403 | P>S | No |
ClinGen TOPMed |
|
|
rs879224507 CA31754122 |
403 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 404 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760300331 CA1215722 |
406 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs760300331 CA1215721 |
406 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
RCV000030340 CA214182 RCV003221787 rs34398505 |
406 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1215723 rs761396270 |
407 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304005495 CA343395429 |
408 | L>F | No |
ClinGen TOPMed |
|
|
rs200722190 CA1215724 |
408 | L>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs1213945907 CA343395434 |
409 | A>T | No |
ClinGen TOPMed |
|
|
rs867228995 CA31754123 |
410 | D>N | No |
ClinGen Ensembl |
|
|
rs868508232 CA343395500 |
412 | A>G | No |
ClinGen TOPMed |
|
|
rs868508232 CA31754124 |
412 | A>V | No |
ClinGen TOPMed |
|
|
CA343395527 rs1241469971 |
414 | P>L | No |
ClinGen gnomAD |
|
|
rs752138485 CA1215725 |
414 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344471521 CA343395541 |
415 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA343395559 rs1263721262 |
416 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA343395557 rs1201083078 |
416 | G>S | No |
ClinGen gnomAD |
|
|
CA1215727 rs781596261 |
418 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA1215728 rs753167797 |
419 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237353372 CA343395639 |
420 | G>R | No |
ClinGen gnomAD |
|
|
rs1419385181 CA343395650 |
421 | R>G | No |
ClinGen gnomAD |
|
|
rs756403517 CA1215729 |
422 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1375560366 CA343395685 |
422 | R>P | No |
ClinGen gnomAD |
|
|
rs1412022726 CA343395702 |
423 | D>E | No |
ClinGen gnomAD |
|
|
rs1477437491 CA343395692 |
423 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1215731 rs749324743 |
427 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1373219077 CA343395785 |
427 | K>R | No |
ClinGen gnomAD |
|
|
rs918830650 CA31754126 |
432 | R>C | No |
ClinGen Ensembl |
|
|
rs1188423461 CA343395872 |
432 | R>H | No |
ClinGen TOPMed |
|
|
CA343395875 rs1188423461 |
432 | R>L | No |
ClinGen TOPMed |
|
|
CA1215733 rs146911013 |
434 | L>I | No |
ClinGen ESP ExAC |
|
|
CA343395896 rs1331199467 |
435 | P>Q | No |
ClinGen gnomAD |
|
|
rs771956293 CA1215735 |
437 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1215736 rs775254618 |
438 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1209023824 CA343395911 |
438 | D>H | No |
ClinGen TOPMed |
|
|
CA31754130 rs936077592 |
439 | T>I | No |
ClinGen TOPMed |
|
|
CA1215739 rs776283993 |
440 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs750724443 CA1215738 |
440 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343395928 rs1297096595 |
441 | P>S | No |
ClinGen TOPMed |
|
|
rs764772746 CA1215741 |
442 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs761188224 CA31754131 |
442 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761188224 CA1215740 |
442 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs1571251532 CA343395939 |
443 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1264877943 CA343395943 |
444 | Q>E | No |
ClinGen gnomAD |
|
|
rs1557896480 CA343395949 |
445 | G>S | No |
ClinGen Ensembl |
|
|
rs768206947 CA1215744 |
446 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA343395967 rs1348226703 |
447 | A>V | No |
ClinGen gnomAD |
|
|
CA343395981 rs1463885272 |
450 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1215746 rs756561151 |
450 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs757465832 CA1215750 |
451 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1215749 rs757465832 |
451 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879050196 CA31754134 |
452 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343395992 rs1305114574 |
453 | E>K | No |
ClinGen gnomAD |
|
|
rs1277543872 CA343396011 |
455 | I>S | No |
ClinGen gnomAD |
|
|
rs1399465049 CA343396007 |
455 | I>V | No |
ClinGen gnomAD |
|
|
rs148983615 CA1215752 |
456 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343396018 rs1229473244 |
456 | K>N | No |
ClinGen gnomAD |
|
|
CA31754135 rs148983615 |
456 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343396014 rs1417286758 |
456 | K>T | No |
ClinGen TOPMed |
|
|
CA343396027 rs758286609 |
458 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1215756 rs768467814 |
462 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA343396068 rs1192260464 |
464 | S>W | No |
ClinGen gnomAD |
|
|
CA31754136 rs904319998 |
467 | E>Q | No |
ClinGen Ensembl |
|
|
COSM898670 rs747813833 CA1215758 COSM898671 COSM898672 |
469 | N>D | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA343396102 rs769389022 |
469 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769389022 CA1215759 |
469 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31754138 rs199857282 |
471 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343396118 rs1425681081 |
472 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1165772060 CA343396127 |
473 | S>G | No |
ClinGen gnomAD |
|
|
CA343396150 rs1289554901 |
476 | R>S | No |
ClinGen gnomAD |
|
|
CA1215763 rs776163913 |
477 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA31754140 rs1005954905 |
477 | D>N | No |
ClinGen TOPMed |
|
|
CA343396168 rs1557896642 |
479 | W>R | No |
ClinGen Ensembl |
|
|
rs564783838 CA31754141 |
480 | S>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1557896651 CA343396184 |
481 | Q>K | No |
ClinGen Ensembl |
|
|
CA1215766 rs754209234 |
481 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162948404 CA343396197 |
483 | E>K | No |
ClinGen TOPMed |
|
|
CA343396205 rs1351090789 |
484 | L>M | No |
ClinGen gnomAD |
|
|
rs1215373620 CA343396215 |
485 | P>L | No |
ClinGen gnomAD |
|
|
rs1215373620 CA343396213 |
485 | P>Q | No |
ClinGen gnomAD |
|
|
rs1260815758 CA343396218 |
486 | R>C | No |
ClinGen gnomAD |
|
|
rs750457008 CA1215769 |
489 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs765447783 CA1215768 |
489 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 492 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343396250 rs1369314556 |
492 | Q>E | No |
ClinGen TOPMed |
|
|
rs1571251824 CA343396276 |
495 | E>G | No |
ClinGen Ensembl |
|
|
CA343396286 rs1252449232 |
497 | G>R | No |
ClinGen TOPMed |
|
|
CA343396292 rs1467991388 |
498 | D>H | No |
ClinGen TOPMed |
|
|
rs1467991388 CA343396291 |
498 | D>N | No |
ClinGen TOPMed |
|
|
rs779922695 CA1215771 |
499 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs879114532 CA31754142 |
501 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1301063909 CA343396317 |
502 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 505 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with O75052
[MIM: 619155]: Nephrotic syndrome 22 (NPHS22)
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS22 is an autosomal recessive, steroid-resistant form characterized by onset of progressive kidney dysfunction in infancy. {ECO:0000269|PubMed:33523862}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS22 is an autosomal recessive, steroid-resistant form characterized by onset of progressive kidney dysfunction in infancy. {ECO:0000269|PubMed:33523862}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for O75052
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O75052 | |||
13 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| caveola | A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| filopodium | Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| podosome | An actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell, contain an F-actin-rich core surrounded by a ring structure containing proteins such as vinculin and talin, and have a diameter of 0.5 mm. |
| 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. |
| sarcoplasmic reticulum membrane | The lipid bilayer surrounding the sarcoplasmic reticulum. |
| T-tubule | Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| nitric-oxide synthase binding | Binding to nitric-oxide synthase. |
16 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of delayed rectifier potassium channel activity | Any process that activates or increases the frequency, rate or extent of delayed rectifier potassium channel activity. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of nitric oxide biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide. |
| positive regulation of nitric oxide mediated signal transduction | Any process that increases the rate, frequency or extent of nitric oxide mediated signal transduction. Nitric oxide mediated signal transduction is The series of molecular signals mediated by the detection of nitric oxide (NO). |
| positive regulation of nitric-oxide synthase activity | Any process that activates or increases the activity of the enzyme nitric-oxide synthase. |
| positive regulation of peptidyl-cysteine S-nitrosylation | Any process that activates or increases the frequency, rate or extent of peptidyl-cysteine S-nitrosylation. |
| positive regulation of potassium ion transmembrane transport | Any process that activates or increases the frequency, rate or extent of potassium ion transmembrane transport. |
| positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization | Any process that activates or increases the frequency, rate or extent of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization. |
| postsynaptic actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins in the postsynaptic actin cytoskeleton. |
| regulation of calcium ion transmembrane transport via high voltage-gated calcium channel | Any process that modulates the frequency, rate or extent of generation of calcium ion transmembrane transport via high voltage-gated calcium channel. |
| regulation of cardiac muscle cell action potential | Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in a cardiac muscle cell. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. |
| regulation of heart rate by chemical signal | The regulation of the rate of heart contraction mediated by chemical signaling, hormonal, autocrine or paracrine. |
| regulation of high voltage-gated calcium channel activity | Any process that modulates the frequency, rate or extent of high voltage-gated calcium channel activity. |
| regulation of nitric oxide biosynthetic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide. |
| regulation of nitric-oxide synthase activity | Any process that modulates the activity of the enzyme nitric-oxide synthase. |
| regulation of ventricular cardiac muscle cell membrane repolarization | Any process that modulates the establishment or extent of a membrane potential in the polarizing direction towards the resting potential in a ventricular cardiomyocyte. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPSKTKYNLV | DDGHDLRIPL | HNEDAFQHGI | CFEAKYVGSL | DVPRPNSRVE | IVAAMRRIRY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EFKAKNIKKK | KVSIMVSVDG | VKVILKKKKK | LLLLQKKEWT | WDESKMLVMQ | DPIYRIFYVS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HDSQDLKIFS | YIARDGASNI | FRCNVFKSKK | KSQAMRIVRT | VGQAFEVCHK | LSLQHTQQNA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DGQEDGESER | NSNSSGDPGR | QLTGAERAST | ATAEETDIDA | VEVPLPGNDV | LEFSRGVTDL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DAVGKEGGSH | TGSKVSHPQE | PMLTASPRML | LPSSSSKPPG | LGTETPLSTH | HQMQLLQQLL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QQQQQQTQVA | VAQVHLLKDQ | LAAEAAARLE | AQARVHQLLL | QNKDMLQHIS | LLVKQVQELE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LKLSGQNAMG | SQDSLLEITF | RSGALPVLCD | PTTPKPEDLH | SPPLGAGLAD | FAHPAGSPLG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RRDCLVKLEC | FRFLPPEDTP | PPAQGEALLG | GLELIKFRES | GIASEYESNT | DESEERDSWS |
| 490 | 500 | ||||
| QEELPRLLNV | LQRQELGDGL | DDEIAV |