O00499
PR
Gene name |
BIN1 (AMPHL) |
Protein name |
Myc box-dependent-interacting protein 1 |
Names |
Amphiphysin II, Amphiphysin-like protein, Box-dependent myc-interacting protein 1, Bridging integrator 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:274 |
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
397 variants for O00499
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1857627 RCV000559491 rs558639756 |
3 | E>D | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1681237812 RCV001327643 |
10 | T>K | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1857626 rs566597765 RCV001071070 RCV001760053 |
18 | V>M | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1681229622 RCV001348078 |
28 | K>N | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA119458 VAR_037425 RCV000008795 rs121909273 |
35 | K>N | Variant assessed as Somatic; impact. Myopathy, centronuclear, 2 CNM2 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA348369910 RCV000794378 rs1282156307 |
58 | G>V | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA55321794 RCV001350205 rs1024658796 |
75 | M>T | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1685759135 TCGA novel RCV001245547 |
77 | E>K | Variant assessed as Somatic; impact. Myopathy, centronuclear, 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA348369413 RCV001760256 rs770994335 RCV001238014 |
93 | D>E | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM69819 rs774273606 CA1857530 RCV001327887 |
93 | D>N | ovary Myopathy, centronuclear, 2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1857531 RCV001315537 rs774273606 |
93 | D>Y | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1857526 rs769724273 RCV000819262 |
96 | G>S | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1685745258 RCV001215101 |
105 | E>K | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687106 rs761813363 |
129 | Y>missing | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1407049344 RCV001242127 |
140 | I>L | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1685516968 RCV001314744 |
144 | G>R | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1685516331 RCV001229874 |
144 | G>missing | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1249621033 CA348367975 RCV000754844 VAR_081082 |
145 | R>C | Myopathy, centronuclear, 2 CNM2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001208067 rs1219115067 CA348367972 |
145 | R>H | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000008796 rs121909274 VAR_037426 CA119459 |
151 | D>N | Myopathy, centronuclear, 2 CNM2; results in severely decreased membrane tubulation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
VAR_081083 rs267606681 CA119462 RCV000008798 |
154 | R>Q | Myopathy, centronuclear, 2 CNM2; results in severely decreased membrane tubulation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA1857472 RCV000811248 rs761914168 |
154 | R>W | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553466026 RCV000545195 CA348367773 RCV001770423 |
157 | Y>H | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1857470 RCV000636907 rs764377144 |
158 | E>K | Variant assessed as Somatic; 0.0 impact. Myopathy, centronuclear, 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1685511003 RCV002564035 RCV001242608 |
160 | L>F | Inborn genetic diseases Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776075897 RCV001037966 |
176 | S>L | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342312 rs779607755 |
182 | A>T | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777940512 RCV001204669 |
184 | Q>E | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762897872 RCV001307711 |
202 | R>* | Variant assessed as Somatic; 0.0 impact. Myopathy, centronuclear, 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001314915 rs376323215 |
222 | D>E | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10612170 RCV000292621 rs886054835 RCV002254923 |
227 | L>V | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000514580 RCV000145344 rs143820618 RCV000529083 CA171403 |
232 | N>K | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_081084 CA1857363 RCV000754843 rs777176261 |
234 | R>C | Myopathy, centronuclear, 2 CNM2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000546175 CA1857358 RCV000726561 rs146573197 |
239 | V>I | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1684781364 RCV001230754 |
247 | G>D | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA55349049 rs975404965 RCV000636905 |
256 | M>T | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001059191 CA1857345 rs761203710 |
257 | S>N | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs766319258 RCV001129261 CA1857322 RCV002556819 |
264 | N>S | Inborn genetic diseases Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000697587 rs372072916 RCV000420208 CA1857317 RCV002522439 |
269 | G>S | Inborn genetic diseases Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001227313 CA1857313 rs771506242 CA55348194 |
275 | G>R | Variant assessed as Somatic; 0.0 impact. Myopathy, centronuclear, 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar NCI-TCGA dbSNP |
|
RCV001296423 rs771506242 |
275 | G>W | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636908 rs201872255 CA1857311 |
280 | T>M | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs771112840 RCV000817171 COSM1197339 CA1857248 COSM1197340 |
289 | A>V | lung Myopathy, centronuclear, 2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA348379876 rs1490772170 RCV001227299 |
296 | S>N | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001055348 rs754707833 RCV000487008 CA1857243 |
298 | S>L | Variant assessed as Somatic; 0.0 impact. Myopathy, centronuclear, 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1462533329 RCV001062598 CA348379780 |
301 | D>Y | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs199551366 RCV001344573 |
307 | T>I | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1857235 RCV001204344 rs199551366 |
307 | T>S | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000445206 CA1857232 rs374565677 RCV001045898 |
309 | E>K | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs769801396 RCV001238446 |
315 | E>Q | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1857230 RCV001352051 rs748381039 |
316 | P>S | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1857225 RCV000442714 RCV002521281 rs557276019 RCV000262446 |
321 | G>R | Inborn genetic diseases Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1684085224 RCV001136232 |
322 | A>V | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227524 CA1857221 rs763810794 |
323 | T>M | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1405949552 RCV001136229 |
340 | P>S | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000707242 rs775494528 |
349 | P>L | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000325514 RCV000636912 rs886043420 |
354 | K>E | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1355424178 RCV001312281 |
358 | I>V | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553456782 RCV000532874 |
371 | S>G | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000435212 rs749198133 RCV001064060 |
372 | V>M | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200887814 RCV000694980 |
380 | A>T | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000174616 RCV000765501 rs794727107 |
381 | P>L | Variant assessed as Somatic; 0.0 impact. Myopathy, centronuclear, 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000794777 rs1573549506 |
383 | P>S | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001345894 rs1573549506 |
383 | P>T | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368616652 RCV000725377 RCV001054931 |
385 | S>L | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1683302135 RCV001307237 |
389 | S>T | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs375322787 RCV000822221 |
394 | D>G | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001862147 RCV000728437 rs558530329 |
399 | P>L | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747660857 RCV000803034 |
402 | T>M | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777951748 RCV001214403 |
414 | S>A | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1468092156 RCV001132833 |
424 | E>G | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636911 rs200124094 RCV003117445 |
428 | G>S | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000254301 RCV001697726 rs141119288 RCV000636918 |
431 | P>L | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001248597 rs1240564481 |
435 | P>T | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886054834 RCV000395082 |
441 | T>I | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000688764 rs758494519 |
443 | A>G | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000366610 rs758494519 |
443 | A>V | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001038283 RCV001577220 rs753599819 |
453 | P>L | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000551683 CA1857072 rs200580275 |
462 | S>L | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs751051376 RCV001131838 CA1857071 |
465 | A>V | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs769199881 CA1857066 RCV001056158 |
468 | T>I | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746346952 RCV000525420 CA1857062 |
471 | A>V | Variant assessed as Somatic; 0.0 impact. Myopathy, centronuclear, 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001770422 RCV000535586 rs780918654 RCV002527749 CA1857055 |
480 | T>M | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Myopathy, centronuclear, 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA1857053 RCV000550351 rs140410496 |
481 | A>V | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1342661066 RCV001052649 CA348375494 |
487 | S>C | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001295533 rs1682848303 |
491 | P>missing | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001070741 rs1682847067 |
493 | V>A | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1857020 rs144459969 RCV001294513 |
494 | V>M | Variant assessed as Somatic; 0.0 impact. Myopathy, centronuclear, 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1191840422 RCV001301017 |
495 | V>L | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001316596 CA1857016 rs371571307 |
506 | V>M | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1857014 rs745758782 RCV001232956 |
509 | G>S | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1857010 RCV001314951 rs777452575 |
513 | G>R | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1857007 RCV000803312 rs766615886 |
514 | R>H | Variant assessed as Somatic; 4.62e-05 impact. Myopathy, centronuclear, 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10606068 RCV000660519 RCV000352599 rs886043878 |
526 | Q>R | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000636910 rs772786604 CA1856972 |
530 | D>N | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000145338 RCV000404410 rs112318500 CA171391 |
532 | T>M | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002262752 RCV000145339 rs138047593 CA171393 RCV000553563 |
542 | K>R | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001341180 rs1445898966 |
545 | D>E | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001306635 CA1856958 rs774321875 |
557 | E>V | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs761759946 RCV001345387 |
566 | V>L | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761759946 RCV001328612 CA1856934 |
566 | V>M | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587783342 RCV002554471 CA1856933 RCV001064999 |
570 | D>E | Inborn genetic diseases Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000527268 CA55335014 rs368983991 |
570 | D>N | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV000145341 CA171397 rs587783343 |
571 | W>* | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000008797 rs121909275 CA119460 |
575 | K>* | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_081085 | 575 | K>del | CNM2; decreased interaction with DNM2 [UniProt] | Yes | UniProt |
|
CA1856931 RCV000341221 rs775119768 |
576 | E>V | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000824428 rs771368114 CA1856930 |
577 | L>V | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000701208 rs147655157 CA1856928 |
581 | R>C | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs759691190 RCV000702936 CA1856927 |
583 | V>I | Variant assessed as Somatic; 0.0 impact. Myopathy, centronuclear, 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA348373417 rs1466748456 RCV001316431 |
584 | F>S | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA55334933 rs1042277527 RCV001248193 |
586 | E>K | Myopathy, centronuclear, 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1207990622 CA348376359 |
4 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 5 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235619869 CA348376319 |
7 | K>R | No |
ClinGen gnomAD |
|
|
rs142657993 CA55353103 |
19 | Q>H | No |
ClinGen ESP TOPMed |
|
|
CA1857625 rs767681993 |
21 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA55353084 rs778087138 |
21 | K>Q | No |
ClinGen Ensembl |
|
| VAR_081080 | 21 | K>del | probable disease-associated variant found in a sporadic case of centronulear myopathy; does not induce membrane tubulation in cultured cells [UniProt] | No | UniProt |
|
CA348376133 rs1383113147 |
22 | L>R | No |
ClinGen TOPMed gnomAD |
|
| VAR_081081 | 24 | R>C | probable disease-associated variant found in a sporadic case of centronulear myopathy; does not induce membrane tubulation in cultured cells [UniProt] | No | UniProt |
|
CA55353069 rs1033853814 |
25 | A>V | No |
ClinGen TOPMed |
|
|
CA348376072 rs1310221552 |
27 | E>G | No |
ClinGen TOPMed |
|
|
CA55353050 rs200655302 |
28 | K>R | No |
ClinGen Ensembl |
|
|
rs773680350 CA1857592 |
29 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1857590 rs748713505 |
39 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs781496643 CA1857589 |
40 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA348370667 rs1388029180 |
41 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755092482 CA1857588 |
43 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1467098257 CA348370639 |
44 | F>S | No |
ClinGen TOPMed |
|
|
CA55327157 rs1054543683 |
47 | C>R | No |
ClinGen gnomAD |
|
|
CA348370583 rs1394166082 |
48 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA348370530 rs1184468227 |
51 | F>C | No |
ClinGen TOPMed |
|
|
rs758601442 CA1857585 |
51 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA55327144 rs369549551 |
52 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1857584 rs369549551 |
52 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348370501 rs765035434 COSM1184710 COSM1184711 |
54 | Q>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1857583 rs765035434 |
54 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1163498945 CA348370494 |
54 | Q>R | No |
ClinGen TOPMed |
|
|
CA1857582 rs756941660 |
55 | L>V | No |
ClinGen ExAC gnomAD |
|
| rs528828320 | 56 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1857563 rs758360325 |
56 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA348369917 rs1282156307 |
58 | G>D | No |
ClinGen TOPMed |
|
|
rs777814511 CA1857562 |
58 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1857561 rs755973108 |
59 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573650224 CA348369900 |
59 | T>P | No |
ClinGen Ensembl |
|
|
CA348369894 rs755973108 |
59 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558835946 CA348369886 |
60 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA55321982 rs567993530 |
60 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 66 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1857559 rs767159511 |
66 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573650069 CA348369734 |
67 | T>I | No |
ClinGen Ensembl |
|
|
CA348369700 rs1210117688 |
70 | A>V | No |
ClinGen TOPMed |
|
|
CA348369631 rs1466528785 |
74 | A>V | No |
ClinGen gnomAD |
|
|
CA1857535 rs764375566 |
76 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377099769 CA348369577 |
79 | S>F | No |
ClinGen TOPMed |
|
|
rs1573648631 CA348369571 |
80 | K>E | No |
ClinGen Ensembl |
|
|
rs1212299957 CA348369546 |
82 | L>V | No |
ClinGen gnomAD |
|
|
rs1363900230 CA348369532 |
83 | N>S | No |
ClinGen gnomAD |
|
|
rs772566024 CA348369512 |
84 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1436882543 CA348369483 |
87 | Q>R | No |
ClinGen gnomAD |
|
|
CA348369459 rs1573648478 |
89 | V>L | No |
ClinGen Ensembl |
|
|
CA348369440 rs1391982523 |
90 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1292748182 CA348369436 |
91 | E>K | No |
ClinGen gnomAD |
|
|
rs1458308545 CA348369418 |
92 | P>L | No |
ClinGen gnomAD |
|
|
rs1426802434 CA348369411 |
94 | W>R | No |
ClinGen gnomAD |
|
|
CA1857528 rs749504481 |
95 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA348369397 rs769724273 |
96 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769724273 CA348369396 |
96 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374028200 CA55321738 |
96 | G>V | No |
ClinGen Ensembl |
|
|
rs1251472613 CA348369393 |
97 | R>G | No |
ClinGen gnomAD |
|
|
CA348369382 rs1573648064 |
98 | D>G | No |
ClinGen Ensembl |
|
|
CA348369386 rs1307310674 |
98 | D>N | No |
ClinGen TOPMed |
|
|
rs1267741868 CA348369367 |
100 | A>E | No |
ClinGen gnomAD |
|
|
CA1857523 rs754932468 |
104 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1281529982 CA348369208 |
106 | N>K | No |
ClinGen TOPMed |
|
|
CA348369213 rs1172180320 |
106 | N>S | No |
ClinGen gnomAD |
|
|
CA348369196 rs529323298 |
107 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348369178 rs1218784993 |
108 | D>E | No |
ClinGen TOPMed |
|
|
CA55321367 rs532260569 |
108 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA55321363 rs931469037 |
109 | L>M | No |
ClinGen gnomAD |
|
|
CA55321361 rs981056581 |
112 | M>I | No |
ClinGen gnomAD |
|
|
rs757907934 CA1857502 |
121 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185043515 CA348368955 |
121 | Q>R | No |
ClinGen gnomAD |
|
|
rs745382388 CA1857501 |
122 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA348368938 rs745382388 |
122 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | T>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227561308 CA348368880 |
126 | M>I | No |
ClinGen gnomAD |
|
|
rs1258696983 CA348368889 |
126 | M>V | No |
ClinGen gnomAD |
|
|
CA348368872 rs1329715143 |
127 | D>G | No |
ClinGen gnomAD |
|
|
rs756882994 CA1857499 |
128 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1392736794 CA348368818 |
130 | L>Q | No |
ClinGen TOPMed |
|
|
rs1385213884 CA348368789 |
132 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766894632 COSM1153481 CA1857493 COSM1006156 |
135 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs777348282 CA1857479 |
139 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs755355125 CA1857478 RCV000431154 |
139 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1527581 rs755355125 CA348368067 COSM1527582 |
139 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA348368059 rs1407049344 |
140 | I>V | No |
ClinGen TOPMed |
|
|
CA1857476 rs780463774 |
143 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA348367990 rs1187515545 |
144 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 148 | V>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348367827 rs1361643970 |
153 | A>T | No |
ClinGen gnomAD |
|
|
rs371755655 CA55320767 |
159 | S>Y | No |
ClinGen ESP TOPMed |
|
|
CA55320765 rs1039877281 |
160 | L>R | No |
ClinGen TOPMed |
|
|
CA348367688 rs1330946461 |
163 | A>G | No |
ClinGen gnomAD |
|
|
CA348367692 rs1210981592 |
163 | A>S | No |
ClinGen TOPMed |
|
|
CA1857468 rs775335446 |
169 | A>D | No |
ClinGen ExAC gnomAD |
|
| rs746044582 | 184 | Q>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781270417 CA1857396 |
206 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411913882 CA348382177 |
214 | K>N | No |
ClinGen TOPMed |
|
|
rs1471867850 CA348382175 |
215 | V>M | No |
ClinGen TOPMed |
|
|
CA348382162 rs1161842269 |
216 | F>L | No |
ClinGen TOPMed |
|
|
rs1175837393 CA348382165 |
216 | F>S | No |
ClinGen gnomAD |
|
|
CA348382132 rs1481015549 |
220 | N>S | No |
ClinGen gnomAD |
|
|
rs573529529 CA1857394 |
221 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348382108 rs1482422450 |
224 | Q>* | No |
ClinGen gnomAD |
|
|
CA348382101 rs1251970422 |
225 | E>K | No |
ClinGen gnomAD |
|
|
rs764576627 CA1857362 COSM54458 |
234 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1206011617 CA348382022 |
235 | V>A | No |
ClinGen TOPMed |
|
|
rs772153287 CA1857359 |
235 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1047701594 CA55349144 |
241 | T>A | No |
ClinGen TOPMed |
|
|
CA1857357 rs770689393 |
241 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA1857355 rs777898974 |
244 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1857353 rs184358580 |
245 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756097152 CA1857354 |
245 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA55349093 rs974115762 |
246 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs375697182 CA1857351 |
246 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 249 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1857348 rs757682434 |
250 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754167617 CA1857347 |
251 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 251 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276771357 CA348381877 |
255 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA348381866 rs1163706982 |
256 | M>V | No |
ClinGen gnomAD |
|
|
rs764396677 CA1857346 |
257 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs942705463 CA348381834 |
258 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs775913214 CA1857344 |
258 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA348381385 rs1184217056 |
260 | N>S | No |
ClinGen TOPMed |
|
|
CA348381352 rs1442397347 |
261 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA348381364 rs1442397347 |
261 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1857323 rs751638145 |
261 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1331854784 CA348381325 |
262 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1416231983 CA348381318 |
262 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 263 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763298445 CA1857321 |
265 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1234805815 CA348381168 |
271 | E>G | No |
ClinGen gnomAD |
|
|
rs746546148 CA1857315 |
273 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1327705608 CA348381069 |
276 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA348381065 rs1282870897 |
276 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs968464952 CA55348181 |
278 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA348381007 rs1282033978 |
280 | T>A | No |
ClinGen gnomAD |
|
|
rs1315909666 CA348380955 |
283 | A>D | No |
ClinGen TOPMed |
|
|
CA55348153 rs958559973 |
285 | P>S | No |
ClinGen Ensembl |
|
|
rs779552563 CA1857249 |
289 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348380025 rs1470554818 |
291 | A>T | No |
ClinGen gnomAD |
|
|
CA1857245 rs756312940 |
291 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348379895 rs1452390669 |
295 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1160778854 CA348379849 |
297 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1160778854 CA348379847 |
297 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA348379820 rs1558811072 |
299 | P>L | No |
ClinGen Ensembl |
|
|
CA1857242 rs766221202 |
300 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259572705 CA348379777 |
301 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1259572705 CA348379773 |
301 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1350023424 CA348379756 |
302 | G>D | No |
ClinGen gnomAD |
|
|
rs764752262 CA1857239 |
303 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1857237 rs746786096 |
306 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772626188 CA1857236 |
306 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1857234 rs199551366 |
307 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1573581088 CA348379664 |
307 | T>P | No |
ClinGen Ensembl |
|
|
CA348379494 rs1422301836 |
312 | V>G | No |
ClinGen gnomAD |
|
|
rs1573580926 CA348379516 |
312 | V>I | No |
ClinGen Ensembl |
|
|
CA348379476 rs1163902421 |
313 | N>K | No |
ClinGen gnomAD |
|
|
CA348379463 rs370911793 |
314 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769801396 CA1857231 |
315 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs769801396 CA55345164 |
315 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1447549483 CA348379422 |
316 | P>R | No |
ClinGen gnomAD |
|
|
rs1218867026 CA348379404 |
317 | E>G | No |
ClinGen gnomAD |
|
|
rs1262442861 CA348379413 |
317 | E>K | No |
ClinGen gnomAD |
|
|
CA1857228 rs754834233 |
318 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1857229 rs781377841 |
318 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1684087820 RCV001310432 |
319 | A>T | No |
ClinVar dbSNP |
|
|
CA1857227 rs200878822 |
320 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764655852 CA1857224 |
321 | G>V | No |
ClinGen ExAC |
|
|
rs753614814 CA1857222 |
323 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394022968 CA348379294 |
325 | G>A | No |
ClinGen gnomAD |
|
|
rs571987587 CA55345046 |
325 | G>R | No |
ClinGen 1000Genomes |
|
|
CA348379262 rs1475650252 |
327 | T>A | No |
ClinGen gnomAD |
|
|
rs1402703988 CA348379241 |
329 | P>S | No |
ClinGen TOPMed |
|
|
CA1857216 rs763376206 |
330 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1319208341 CA348379158 |
334 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 344 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 345 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 348 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 375 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553453967 RCV000523861 |
380 | A>V | No |
ClinVar dbSNP |
|
| TCGA novel | 393 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs955442228 | 415 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 421 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781746027 | 433 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1278753252 | 437 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 439 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1158338100 | 445 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1857073 rs752701141 |
460 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1857074 rs752701141 |
460 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1368701185 CA348375631 |
464 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 464 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1857070 rs751051376 |
465 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762512900 CA1857068 |
466 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1553450921 RCV000492879 |
466 | G>missing | No |
ClinVar dbSNP |
|
|
rs762512900 CA348375618 |
466 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA348375621 rs1190791276 |
466 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1857067 rs772939462 |
467 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA55337853 rs769199881 |
468 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761117052 CA1857065 |
469 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA1857064 rs776178572 |
470 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1857063 rs772434419 |
470 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770986090 CA1857060 |
472 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1238703629 CA348375583 |
473 | G>E | No |
ClinGen gnomAD |
|
|
rs777971351 CA1857058 |
474 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA348375567 rs1230010100 |
476 | E>Q | No |
ClinGen TOPMed |
|
|
rs865803817 CA55337788 |
479 | E>K | No |
ClinGen Ensembl |
|
|
rs372650268 CA55337749 |
482 | A>G | No |
ClinGen ESP |
|
|
rs1221433460 CA348375524 |
483 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1240672805 CA348375516 |
484 | E>Q | No |
ClinGen TOPMed |
|
|
rs1573532756 CA348375508 |
485 | A>P | No |
ClinGen Ensembl |
|
|
CA1857051 rs757908634 |
487 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs767828834 CA1857027 |
488 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA1857028 rs767828834 |
488 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs774764729 CA1857025 |
489 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs766890661 CA1857024 |
489 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1269200306 CA348375031 |
490 | L>V | No |
ClinGen TOPMed |
|
|
CA55337409 rs1024500063 |
491 | P>R | No |
ClinGen TOPMed |
|
|
CA348375014 rs1362490178 |
491 | P>S | No |
ClinGen TOPMed |
|
|
CA348374941 CA1857021 rs144459969 |
494 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191840422 CA348374936 |
495 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 496 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292404620 CA348374905 |
497 | T>N | No |
ClinGen TOPMed |
|
|
rs368238742 CA1857019 |
498 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs995090564 CA55337369 |
499 | P>A | No |
ClinGen Ensembl |
|
|
rs1287066086 CA348374824 |
502 | V>A | No |
ClinGen gnomAD |
|
|
rs1244880320 CA348374834 |
502 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1857018 rs768399754 |
504 | G>S | No |
ClinGen ExAC |
|
|
RCV001090270 rs1682838921 |
507 | E>V | No |
ClinVar dbSNP |
|
|
CA1857012 rs756816560 |
512 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755351031 CA1857009 |
513 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1857008 rs148422103 |
514 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348374631 rs766615886 |
514 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348374639 rs148422103 |
514 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763458588 CA1857006 |
515 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA55337286 rs750869889 |
516 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419369964 CA348374540 |
519 | P>L | No |
ClinGen Ensembl |
|
|
CA1857004 rs765354438 |
520 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1182560077 CA348374308 |
525 | V>I | No |
ClinGen TOPMed |
|
|
rs1182560077 COSM1184715 CA348374307 COSM1184714 |
525 | V>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs771017384 CA1856974 |
526 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1412878762 CA348374260 |
528 | Q>R | No |
ClinGen gnomAD |
|
|
CA348374242 rs1573528126 |
530 | D>A | No |
ClinGen Ensembl |
|
|
CA348374232 rs1455811048 |
531 | Y>S | No |
ClinGen gnomAD |
|
|
CA348374223 rs1573528096 |
532 | T>P | No |
ClinGen Ensembl |
|
|
CA55336970 rs112318500 |
532 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1428531749 CA348374217 |
533 | A>S | No |
ClinGen TOPMed |
|
|
rs780816118 CA1856970 |
534 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA55336949 rs773732601 |
536 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1856969 rs773732601 |
536 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348374169 rs1278822201 |
537 | D>V | No |
ClinGen gnomAD |
|
|
CA1856965 rs561244491 |
540 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764293546 COSM54457 CA1856964 |
541 | L>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 542 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA55336892 rs747661696 |
544 | G>A | No |
ClinGen Ensembl |
|
|
rs1226259942 CA348374068 |
545 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 549 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335019359 CA348373988 |
551 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 553 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767826347 CA1856960 |
554 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1573527583 CA348373955 |
554 | N>T | No |
ClinGen Ensembl |
|
|
CA1856959 rs759786484 |
555 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 558 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348373755 rs1452086430 |
559 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 561 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348373709 rs1176046957 |
563 | L>F | No |
ClinGen TOPMed |
|
|
CA55335048 rs894924535 |
564 | M>L | No |
ClinGen Ensembl |
|
|
rs928950798 CA55335016 |
569 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1232077489 CA348373562 |
574 | H>Q | No |
ClinGen TOPMed |
|
|
CA348373567 rs1368834223 |
574 | H>R | No |
ClinGen TOPMed |
|
|
CA348373543 rs762739 |
576 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762739 CA1856932 |
576 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762739 CA348373545 |
576 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348373512 rs1226334179 |
578 | E>A | No |
ClinGen TOPMed |
|
|
CA348373464 rs1328592044 |
581 | R>H | No |
ClinGen gnomAD |
|
|
rs759691190 CA55334948 |
583 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348373404 rs1573516659 |
585 | P>S | No |
ClinGen Ensembl |
|
|
rs1422677235 CA348373389 |
586 | E>D | No |
ClinGen gnomAD |
|
|
CA1856926 rs748600944 |
589 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 590 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA55334931 rs945333804 |
591 | R>K | No |
ClinGen Ensembl |
|
|
CA1856924 rs199908147 |
592 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA55334929 rs199908147 |
592 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1856923 rs375004668 |
593 | P>L | No |
ClinGen ESP ExAC gnomAD |
No associated diseases with O00499
3 regional properties for O00499
24 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| axon initial segment | Portion of the axon proximal to the neuronal cell body, at the level of the axon hillock. The action potentials that propagate along the axon are generated at the level of this initial segment. |
| axon terminus | Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal button is a specialized region of it. |
| cerebellar mossy fiber | An axon arising from cerebellar projecting cells in the cochlea, vestibular nuclei, spinal cord, reticular formation, cerebellar nuclei and basilar pontine nuclei. Mossy fibers enter through all three cerebellar peduncles and send collaterals to the deep cerebellar nuclei, then branch in the white matter and terminate in the granule cell layer. Through this branching, a given mossy fiber can innervate several folia. Mossy fibers synapse on granule cells. The synaptic contacts are made at enlargements along the length of the mossy fiber called mossy fiber rosettes. The enlargements of the rosettes give the axons a mossy-looking appearance in Golgi stained preparations. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| extrinsic component of synaptic vesicle membrane | The component of the synaptic vesicle membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| I band | A region of a sarcomere that appears as a light band on each side of the Z disc, comprising a region of the sarcomere where thin (actin) filaments are not overlapped by thick (myosin) filaments; contains actin, troponin, and tropomyosin; each sarcomere includes half of an I band at each end. |
| lipid tube | A macromolecular complex that contains a tube of lipid surrounded by a protein coat. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| node of Ranvier | An axon part that is a gap in the myelin where voltage-gated sodium channels cluster and saltatory conduction is executed. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| RNA polymerase II transcription repressor complex | A protein complex, located in the nucleus, that possesses activity that prevents or downregulates transcription from a RNA polymerase II promoter. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
| 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. |
| varicosity | Non-terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| aspartic-type endopeptidase inhibitor activity | Binds to and stops, prevents or reduces the activity of aspartic-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; the optimum reaction pH is below 5 due to an aspartic residue involved in the catalytic process. |
| chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
| clathrin binding | Binding to a clathrin heavy or light chain, the main components of the coat of coated vesicles and coated pits, and which also occurs in synaptic vesicles. |
| GTPase binding | Binding to a GTPase, any enzyme that catalyzes the hydrolysis of GTP. |
| identical protein binding | Binding to an identical protein or proteins. |
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
| protease binding | Binding to a protease or a peptidase. |
| RNA polymerase binding | Binding to an RNA polymerase molecule or complex. |
| tau protein binding | Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS. |
22 GO annotations of biological process
| Name | Definition |
|---|---|
| cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. |
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
| endosome to lysosome transport | The directed movement of substances from endosomes to lysosomes. |
| lipid tube assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a macromolecular complex that contains a tube of lipid surrounded by a protein coat involved in membrane shaping of vesicle membranes as they fuse or undergo fission. |
| negative regulation of amyloid-beta formation | Any process that stops, prevents or reduces the frequency, rate or extent of amyloid-beta formation. |
| negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process. |
| negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel | Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion transmembrane transport via high voltage-gated calcium channel. |
| negative regulation of potassium ion transmembrane transport | Any process that stops, prevents or reduces the frequency, rate or extent of potassium ion transmembrane transport. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| negative regulation of ventricular cardiac muscle cell action potential | Any process that stops, prevents or reduces the frequency, rate or extent of ventricular cardiac muscle cell action potential. |
| nucleus localization | Any process in which the nucleus is transported to, and/or maintained in, a specific location within the cell. |
| nucleus organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nucleus. |
| positive regulation of actin filament polymerization | Any process that activates or increases the frequency, rate or extent of actin polymerization. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of astrocyte differentiation | Any process that activates or increases the frequency, rate or extent of astrocyte differentiation. |
| positive regulation of endocytosis | Any process that activates or increases the frequency, rate or extent of endocytosis. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| regulation of cell cycle process | Any process that modulates a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. |
| regulation of heart rate by cardiac conduction | A cardiac conduction process that modulates the frequency or rate of heart contraction. |
| regulation of neuron differentiation | Any process that modulates the frequency, rate or extent of neuron differentiation. |
| synaptic vesicle endocytosis | A vesicle-mediated transport process, in which the synaptic vesicle membrane constituents are retrieved from the presynaptic membrane on the axon terminal after neurotransmitter secretion by exocytosis. Synaptic vesicle endocytosis can occur via clathrin-dependent and clathrin-independent mechanisms. |
| T-tubule organization | A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of the T-tubule. A T-tubule is an invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P50478 | AMPH | Amphiphysin | Gallus gallus (Chicken) | PR |
| P49418 | AMPH | Amphiphysin | Homo sapiens (Human) | PR |
| Q9UBW5 | BIN2 | Bridging integrator 2 | Homo sapiens (Human) | PR |
| Q7TQF7 | Amph | Amphiphysin | Mus musculus (Mouse) | PR |
| O08539 | Bin1 | Myc box-dependent-interacting protein 1 | Mus musculus (Mouse) | PR |
| O08838 | Amph | Amphiphysin | Rattus norvegicus (Rat) | PR |
| O08839 | Bin1 | Myc box-dependent-interacting protein 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEMGSKGVT | AGKIASNVQK | KLTRAQEKVL | QKLGKADETK | DEQFEQCVQN | FNKQLTEGTR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LQKDLRTYLA | SVKAMHEASK | KLNECLQEVY | EPDWPGRDEA | NKIAENNDLL | WMDYHQKLVD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QALLTMDTYL | GQFPDIKSRI | AKRGRKLVDY | DSARHHYESL | QTAKKKDEAK | IAKPVSLLEK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AAPQWCQGKL | QAHLVAQTNL | LRNQAEEELI | KAQKVFEEMN | VDLQEELPSL | WNSRVGFYVN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TFQSIAGLEE | NFHKEMSKLN | QNLNDVLVGL | EKQHGSNTFT | VKAQPSDNAP | AKGNKSPSPP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DGSPAATPEI | RVNHEPEPAG | GATPGATLPK | SPSQLRKGPP | VPPPPKHTPS | KEVKQEQILS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LFEDTFVPEI | SVTTPSQFEA | PGPFSEQASL | LDLDFDPLPP | VTSPVKAPTP | SGQSIPWDLW |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EPTESPAGSL | PSGEPSAAEG | TFAVSWPSQT | AEPGPAQPAE | ASEVAGGTQP | AAGAQEPGET |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AASEAASSSL | PAVVVETFPA | TVNGTVEGGS | GAGRLDLPPG | FMFKVQAQHD | YTATDTDELQ |
| 550 | 560 | 570 | 580 | 590 | |
| LKAGDVVLVI | PFQNPEEQDE | GWLMGVKESD | WNQHKELEKC | RGVFPENFTE | RVP |