Q96MF2
PR
Gene name |
STAC3 |
Protein name |
SH3 and cysteine-rich domain-containing protein 3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:246329 |
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
296 variants for Q96MF2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs775388111 RCV000798660 CA6647284 |
9 | S>Y | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1382772416 CA385418494 RCV001067068 |
12 | P>A | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001304704 rs2037840980 |
49 | N>D | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6647238 RCV000552118 RCV002284408 rs141938531 |
53 | V>M | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1027548586 CA385417578 RCV001040953 |
57 | G>A | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1027548586 CA237760781 RCV000798083 |
57 | G>V | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001349558 rs2037839479 |
62 | Y>missing | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772643404 CA6647229 RCV001038458 |
63 | I>V | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6647222 RCV001233170 rs777991873 |
73 | E>Q | Variant assessed as Somatic; 0.0 impact. Bailey-Bloch congenital myopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6647221 RCV001508696 RCV000641505 rs199716296 |
74 | E>G | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000685187 rs747619441 |
75 | E>missing | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000641503 RCV002261149 rs747619441 |
75 | E>missing | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218121 rs781007752 |
76 | E>missing | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751491183 CA6647215 RCV001296760 |
78 | P>A | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201754072 CA6647212 RCV000641504 |
84 | L>R | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776406787 CA6647209 RCV000641501 |
87 | D>N | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6647207 rs368386121 RCV000804293 |
94 | D>N | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000706638 rs1176692820 CA385416755 |
100 | P>L | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs186941885 RCV001234972 CA6647201 |
108 | R>Q | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001220044 rs763684159 CA6647173 |
113 | N>K | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1565783065 CA385416241 RCV000688932 |
116 | F>C | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs146313451 RCV000247773 COSM942006 RCV001823127 CA6647170 RCV000530271 |
119 | R>C | endometrium Bailey-Bloch congenital myopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555194630 RCV000545173 |
128 | H>missing | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001063789 rs2037825175 |
135 | V>A | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777565251 CA6647155 RCV001239653 |
142 | G>R | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001035814 rs777565251 CA6647156 |
142 | G>S | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001043418 CA385415534 rs1280812031 |
147 | G>D | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2037800739 RCV001344696 |
153 | S>N | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000800639 rs1592247209 CA385415360 |
158 | S>N | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA385415275 rs1555194487 RCV000556271 |
163 | A>T | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001230909 rs2037798842 |
164 | C>S | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1404488985 CA385413825 RCV001040956 |
173 | R>C | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs768476164 RCV001301299 |
182 | R>S | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2037753047 RCV001040297 |
185 | V>A | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000625927 rs1461373398 CA385413643 |
187 | M>K | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA385413555 RCV000800349 rs1202021365 |
192 | R>W | Variant assessed as Somatic; 0.0 impact. Bailey-Bloch congenital myopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1382250150 RCV001057815 |
195 | G>R | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001053745 rs201567526 CA6647066 |
212 | E>D | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6647061 RCV001327257 rs760547303 |
221 | P>H | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000700459 CA385411906 rs1202215410 |
247 | Q>* | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs760144996 RCV001226813 CA6647009 |
249 | S>F | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000677632 rs773050511 |
255 | L>missing | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs367590066 CA6647001 RCV000701165 |
269 | P>L | Variant assessed as Somatic; 0.0 impact. Bailey-Bloch congenital myopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs115276341 RCV000559633 CA6646976 RCV000251410 |
281 | N>S | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_071313 CA145329 RCV000074400 rs140291094 RCV001093315 |
284 | W>S | Bailey-Bloch congenital myopathy MYPBB; loss of interaction with CACNA1S [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000487670 RCV001267514 rs371720347 RCV000677630 CA6646959 |
288 | K>* | Bailey-Bloch congenital myopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000641507 rs138921555 CA6646953 |
295 | F>L | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6646952 RCV000801699 rs754269738 |
299 | N>D | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000543553 rs1555193817 CA385410486 |
311 | H>R | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001049612 rs2037674310 |
312 | R>H | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs146430404 RCV000818970 CA6646950 |
314 | T>M | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001224272 CA6646949 rs370840978 |
321 | R>H | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6646948 RCV001056383 rs754455763 |
326 | I>M | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000641502 CA385410106 rs1445308443 |
329 | K>N | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA6646917 RCV002553801 rs753014378 COSM1363277 RCV001055810 |
341 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine Inborn genetic diseases Bailey-Bloch congenital myopathy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6646912 RCV000688822 rs762866281 |
351 | R>L | Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs760545125 CA6647285 |
7 | L>P | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 9 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6647283 rs771921089 |
14 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 16 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245080942 CA385418405 |
17 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs748836499 CA6647279 |
19 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748836499 CA385418364 |
19 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748836499 CA6647278 |
19 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6647280 rs202174922 |
19 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6647277 rs777091005 |
21 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs755672550 CA6647276 |
22 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1289847582 CA385418209 |
23 | L>I | No |
ClinGen gnomAD |
|
|
rs769473419 CA6647250 |
24 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6647248 rs146128235 |
25 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747642245 CA6647249 |
25 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2037842612 RCV001169933 |
28 | Q>* | No |
ClinVar dbSNP |
|
|
CA237760894 rs529647192 |
29 | L>I | No |
ClinGen 1000Genomes |
|
|
CA6647245 rs746244771 |
35 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA237760877 rs969878003 |
35 | T>I | No |
ClinGen Ensembl |
|
|
CA6647244 rs779086459 |
36 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA237760867 rs1023756156 |
36 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs757624550 CA6647243 |
37 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA6647241 rs756235395 |
41 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA6647240 COSM164627 rs756235395 |
41 | E>V | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1205469596 CA385417821 |
43 | P>L | No |
ClinGen gnomAD |
|
|
CA385417830 rs1235731703 |
43 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752723518 CA6647239 |
50 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297443697 CA385417627 |
54 | G>E | No |
ClinGen TOPMed |
|
|
rs751502780 CA6647236 |
55 | A>G | No |
ClinGen ExAC |
|
|
rs762781734 CA6647234 |
56 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1027548586 CA385417580 |
57 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6647233 rs375914124 |
57 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776211682 CA6647230 |
60 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385417521 rs1241059759 |
60 | I>T | No |
ClinGen TOPMed |
|
|
CA6647231 rs776211682 |
60 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565783458 CA385417418 |
67 | E>K | No |
ClinGen Ensembl |
|
|
CA6647227 rs148121313 |
70 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385417346 rs148121313 |
70 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6647226 rs192281738 |
70 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6647219 rs781308396 |
76 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6647214 rs766322258 |
78 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs751491183 CA385417154 |
78 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385417121 rs1592248494 |
81 | P>T | No |
ClinGen Ensembl |
|
|
rs762682073 CA6647213 |
82 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 85 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385417075 rs1316989321 |
85 | V>L | No |
ClinGen TOPMed |
|
|
CA6647211 rs764988214 |
86 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200362421 CA237760582 |
88 | K>N | No |
ClinGen gnomAD |
|
|
rs768113914 CA6647208 |
90 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1245406701 CA385416892 |
94 | D>G | No |
ClinGen TOPMed |
|
|
rs771419495 CA6647205 |
95 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6647206 rs774769183 |
95 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA385416843 rs1456586694 |
96 | F>L | No |
ClinGen gnomAD |
|
|
rs139047185 CA6647204 |
98 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778043546 CA6647203 |
99 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs975202715 CA237760497 |
100 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs975202715 CA385416770 |
100 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1420411218 CA385416734 |
102 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385416667 rs1313885486 |
103 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA385416644 rs1250624461 |
104 | D>A | No |
ClinGen gnomAD |
|
|
rs1450099394 CA385416608 |
106 | C>F | No |
ClinGen gnomAD |
|
|
rs1487316158 CA385416580 |
107 | A>G | No |
ClinGen gnomAD |
|
|
CA6647202 rs770132728 |
107 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487316158 CA385416576 |
107 | A>V | No |
ClinGen gnomAD |
|
|
rs186941885 CA6647200 |
108 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385416569 rs1293466371 |
108 | R>W | No |
ClinGen gnomAD |
|
|
CA385416541 rs755062785 |
109 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755062785 CA6647199 |
109 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385416522 rs1337127044 |
110 | I>V | No |
ClinGen TOPMed |
|
|
COSM942007 rs747064895 CA6647198 |
112 | L>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs572373473 CA237760166 |
113 | N>D | No |
ClinGen 1000Genomes gnomAD |
|
|
rs553736807 CA237760159 |
113 | N>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA385416304 rs553736807 |
113 | N>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA6647172 rs755722722 |
114 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs755722722 CA385416281 |
114 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA6647171 rs752160384 |
117 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1405053622 CA385416189 |
118 | L>F | No |
ClinGen TOPMed |
|
|
rs759018284 CA6647169 |
119 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773757374 CA6647168 |
122 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs762199669 CA6647166 |
126 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1316350510 CA385416013 |
127 | I>M | No |
ClinGen gnomAD |
|
|
CA6647164 rs558371235 |
128 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA237760031 rs912482667 |
128 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA385415992 rs1342254015 |
129 | E>K | No |
ClinGen gnomAD |
|
|
CA6647163 rs747311756 |
130 | H>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 130 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385415941 rs775568647 |
131 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775568647 CA6647162 |
131 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs897732327 CA237759948 |
134 | Y>H | No |
ClinGen gnomAD |
|
|
CA385415881 rs1243252880 |
134 | Y>S | No |
ClinGen gnomAD |
|
|
CA6647158 rs779015879 |
140 | C>Y | No |
ClinGen ExAC gnomAD |
|
| rs752436793 | 144 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6647154 rs755858096 |
144 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA385415706 rs1421071233 |
144 | I>T | No |
ClinGen gnomAD |
|
|
rs1361322309 CA385415572 |
145 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1361322309 CA385415575 |
145 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754562509 CA6647133 |
146 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1422931973 CA385415548 |
146 | P>R | No |
ClinGen gnomAD |
|
|
rs779600884 CA6647131 |
147 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1330197489 CA385415515 |
148 | F>Y | No |
ClinGen gnomAD |
|
|
CA385415489 rs1300902042 |
149 | H>L | No |
ClinGen gnomAD |
|
|
rs754407055 CA385415482 |
150 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764482125 CA385415477 |
150 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6647128 rs764482125 |
150 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754407055 CA6647129 |
150 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385415464 rs1158350639 |
151 | A>D | No |
ClinGen gnomAD |
|
|
CA385415445 rs1211025360 |
152 | Y>* | No |
ClinGen TOPMed |
|
|
CA6647127 rs761120163 |
152 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs767857119 CA6647126 |
153 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767857119 CA6647125 |
153 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385415414 rs1177902072 |
154 | S>C | No |
ClinGen gnomAD |
|
|
CA385415401 rs1477721726 |
155 | P>Q | No |
ClinGen gnomAD |
|
|
rs1565782542 CA385415379 |
157 | Y>C | No |
ClinGen Ensembl |
|
|
CA6647123 rs774700155 |
157 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1269333123 CA385415317 |
160 | Q>R | No |
ClinGen gnomAD |
|
|
rs766607089 CA6647121 |
161 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762921562 CA6647120 |
162 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA237759100 rs947707017 |
163 | A>V | No |
ClinGen TOPMed |
|
|
rs999293540 CA237759073 |
166 | K>N | No |
ClinGen Ensembl |
|
|
rs1030687260 CA237759094 |
166 | K>R | No |
ClinGen gnomAD |
|
|
CA385415180 rs1406399344 |
167 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 168 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385413854 rs1289756713 |
171 | A>S | No |
ClinGen gnomAD |
|
|
rs187407788 CA6647100 |
173 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187407788 CA6647101 |
173 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761719479 CA385413808 |
174 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1038718298 CA237757905 |
174 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1168589894 CA385413778 |
177 | V>A | No |
ClinGen gnomAD |
|
| rs1430468647 | 178 | F>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237757900 rs781290722 |
180 | T>I | No |
ClinGen Ensembl |
|
|
rs768476164 CA6647097 |
182 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200605475 CA6647096 |
182 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6647095 rs775144067 |
183 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1290103354 CA385413689 |
184 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 184 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385413642 rs1461373398 |
187 | M>T | No |
ClinGen gnomAD |
|
|
rs1162431153 CA385413594 |
190 | K>E | No |
ClinGen TOPMed |
|
|
CA237757858 rs76667525 |
190 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385413496 rs1382250150 |
195 | G>* | No |
ClinGen TOPMed |
|
|
rs778226185 CA6647092 |
196 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA385413457 rs1296777138 |
197 | A>G | No |
ClinGen gnomAD |
|
|
rs1296777138 CA385413453 |
197 | A>V | No |
ClinGen gnomAD |
|
|
CA237757848 rs756779085 |
198 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6647091 rs756779085 |
198 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385412794 rs1363103787 |
203 | V>I | No |
ClinGen gnomAD |
|
|
rs781772465 CA6647071 |
205 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385412772 rs1420318424 |
206 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1420318424 CA385412770 |
206 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6647070 rs769220317 |
207 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs747392775 CA6647069 |
208 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs758788446 CA6647067 |
210 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375251689 CA6647068 |
210 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 211 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385412690 rs1223623100 |
212 | E>Q | No |
ClinGen gnomAD |
|
|
CA6647065 rs779177796 |
213 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA237756563 rs971743925 |
213 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA385412666 rs1282656772 |
214 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1042306495 CA237756562 |
216 | P>S | No |
ClinGen Ensembl |
|
|
CA6647063 rs753872266 |
218 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764020218 CA6647062 |
221 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6647059 rs767281609 |
222 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs568388323 CA6647039 |
225 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751302323 CA6647038 |
227 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs769512140 CA237756286 |
228 | G>R | No |
ClinGen Ensembl |
|
|
rs766144941 CA6647036 |
231 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA237756277 rs951327564 |
232 | A>T | No |
ClinGen Ensembl |
|
|
rs762753878 CA6647034 |
233 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs946038938 CA237756268 |
234 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA385412279 rs1268225977 |
234 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1446360872 CA385412246 |
235 | K>T | No |
ClinGen TOPMed |
|
|
rs1194108182 CA385412200 |
237 | P>L | No |
ClinGen TOPMed |
|
|
CA385412180 rs1384379021 |
238 | D>E | No |
ClinGen gnomAD |
|
|
CA385412197 rs1425579773 |
238 | D>N | No |
ClinGen TOPMed |
|
|
CA385412054 rs1410887272 |
241 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162017117 CA385411974 |
244 | P>A | No |
ClinGen gnomAD |
|
|
rs1427140626 CA385411948 |
245 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs767921403 CA6647010 |
248 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs571910290 CA237755859 |
251 | Y>H | No |
ClinGen Ensembl |
|
|
CA385411807 rs1343689461 |
252 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1234874016 CA385411783 |
253 | V>L | No |
ClinGen gnomAD |
|
|
rs755737509 CA237755830 |
255 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs755737509 CA6647008 |
255 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 256 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs922499167 CA237755777 |
258 | F>L | No |
ClinGen gnomAD |
|
|
rs749630394 CA6647005 |
260 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs746895290 CA6647004 |
260 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs769992787 CA6647003 |
262 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1435381060 CA385411609 |
263 | K>N | No |
ClinGen Ensembl |
|
|
rs1347901353 CA385411566 |
265 | D>E | No |
ClinGen gnomAD |
|
|
CA6647002 rs748191304 |
269 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA237755497 rs149430986 |
270 | P>L | No |
ClinGen 1000Genomes |
|
|
rs747040976 CA6646979 |
272 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6646978 rs780176798 |
278 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1315635555 CA385411166 COSM694374 |
280 | S>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1469327234 CA385411162 |
281 | N>D | No |
ClinGen gnomAD |
|
|
rs115276341 CA6646977 |
281 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140291094 CA385411087 |
284 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1433927382 CA385411073 |
285 | W>R | No |
ClinGen gnomAD |
|
|
rs1460702888 CA385411052 |
286 | R>G | No |
ClinGen gnomAD |
|
|
rs756995087 CA6646975 COSM1299711 |
286 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs768724746 CA6646962 |
287 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371720347 CA6646961 |
288 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385410962 rs1202942124 |
288 | K>I | No |
ClinGen gnomAD |
|
|
CA385410917 rs1275722957 |
290 | G>E | No |
ClinGen gnomAD |
|
|
CA6646958 rs151179680 |
290 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745864762 CA6646956 |
291 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs778683600 CA385410856 |
293 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA6646955 rs778683600 |
293 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA385410840 rs1372959649 |
294 | G>R | No |
ClinGen gnomAD |
|
|
rs978415393 CA237755287 |
299 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 302 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373808818 CA6646951 |
305 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM78587 CA385410637 rs1380837175 |
305 | R>W | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA385410592 rs1170571096 |
307 | G>R | No |
ClinGen TOPMed |
|
|
rs1401279665 CA385410523 |
310 | V>A | No |
ClinGen TOPMed |
|
|
CA237755279 rs968795321 |
318 | V>L | No |
ClinGen Ensembl |
|
|
CA385410266 rs1175133758 |
321 | R>G | No |
ClinGen gnomAD |
|
|
rs1175133758 CA385410262 |
321 | R>S | No |
ClinGen gnomAD |
|
|
CA385410066 rs368287828 |
331 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385410082 rs1267754307 |
331 | D>N | No |
ClinGen gnomAD |
|
|
CA6646922 rs754352201 |
333 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385409951 rs1592242371 |
334 | V>G | No |
ClinGen Ensembl |
|
|
rs764616120 CA6646921 |
334 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1043387265 CA237754927 |
335 | V>L | No |
ClinGen Ensembl |
|
|
CA385409861 rs1465388983 |
339 | D>E | No |
ClinGen gnomAD |
|
|
CA385409877 rs1190671728 |
339 | D>H | No |
ClinGen gnomAD |
|
|
CA385409275 rs1202014222 |
341 | A>T | No |
ClinGen gnomAD |
|
|
rs759719876 CA6646915 |
342 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA385409167 rs1592242295 |
349 | T>P | No |
ClinGen Ensembl |
|
|
CA385409142 rs762866281 |
351 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385409146 rs1335449120 |
351 | R>S | No |
ClinGen gnomAD |
|
|
rs773171630 CA6646911 |
352 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6646910 rs769628212 |
354 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA385409081 rs550749695 CA6646908 |
356 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6646907 rs373467494 |
357 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385409057 rs1450559846 |
359 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 361 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779483995 CA6646905 |
364 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs970217448 CA237754846 |
365 | I>K | No |
ClinGen TOPMed gnomAD |
1 associated diseases with Q96MF2
[MIM: 255995]: Myopathy, congenital, Bailey-Bloch (MYPBB)
An autosomal recessive disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. {ECO:0000269|PubMed:23736855, ECO:0000269|PubMed:28777491, ECO:0000269|PubMed:29078335}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. {ECO:0000269|PubMed:23736855, ECO:0000269|PubMed:28777491, ECO:0000269|PubMed:29078335}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q96MF2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SH3 domain | 247 - 306 | IPR001452-1 |
| domain | SH3 domain | 307 - 364 | IPR001452-2 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 89 - 140 | IPR002219 |
| domain | Stac3, first SH3 domain | 251 - 303 | IPR035736 |
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extrinsic component of cytoplasmic side of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic 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. |
| voltage-gated calcium channel complex | A protein complex that forms a transmembrane channel through which calcium ions may pass in response to changes in membrane potential. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| neuromuscular synaptic transmission | The process of synaptic transmission from a neuron to a muscle, across a synapse. |
| positive regulation of protein localization to plasma membrane | Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane. |
| positive regulation of voltage-gated calcium channel activity | Any process that activates or increases the frequency, rate or extent of voltage-gated calcium channel activity. |
| skeletal muscle contraction | A process in which force is generated within skeletal muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the skeletal muscle, the muscle contraction takes advantage of an ordered sarcomeric structure and in most cases it is under voluntary control. |
| skeletal muscle fiber development | The process whose specific outcome is the progression of the skeletal muscle fiber over time, from its formation to the mature structure. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6DBR6 | stac3 | SH3 and cysteine-rich domain-containing protein 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTEKEVLESP | KPSFPAETRQ | SGLQRLKQLL | RKGSTGTKEM | ELPPEPQANG | EAVGAGGGPI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YYIYEEEEEE | EEEEEEPPPE | PPKLVNDKPH | KFKDHFFKKP | KFCDVCARMI | VLNNKFGLRC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KNCKTNIHEH | CQSYVEMQRC | FGKIPPGFHR | AYSSPLYSNQ | QYACVKDLSA | ANRNDPVFET |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LRTGVIMANK | ERKKGQADKK | NPVAAMMEEE | PESARPEEGK | PQDGNPEGDK | KAEKKTPDDK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HKQPGFQQSH | YFVALYRFKA | LEKDDLDFPP | GEKITVIDDS | NEEWWRGKIG | EKVGFFPPNF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IIRVRAGERV | HRVTRSFVGN | REIGQITLKK | DQIVVQKGDE | AGGYVKVYTG | RKVGLFPTDF |
| LEEI |