Q16585
PR
Gene name |
SGCB |
Protein name |
Beta-sarcoglycan |
Names |
Beta-SG, 43 kDa dystrophin-associated glycoprotein, 43DAG, A3b |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6443 |
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 Q16585
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q16585-F1 | Predicted | AlphaFoldDB |
344 variants for Q16585
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000412344 rs1057517205 |
1 | M>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812020 RCV000778734 rs886042503 RCV000498910 |
1 | M>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E Qualitative or quantitative defects of beta-sarcoglycan [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069412 rs1737457235 |
1 | M>T | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
rs398123262 RCV001594381 RCV000173087 RCV001049531 |
1 | M>V | Autosomal recessive limb-girdle muscular dystrophy type 2E Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1578130059 RCV000792759 CA356878714 |
3 | A>E | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001043800 rs1207685911 |
4 | A>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001055616 rs886158091 CA96791683 |
5 | A>E | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs781364428 RCV000666362 |
5 | A>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356878698 rs1414363052 RCV000824295 |
6 | A>V | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000667288 rs1410190129 |
7 | A>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001240083 rs768838951 RCV000269382 |
8 | A>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000596558 RCV001778998 rs1553940963 RCV000538793 |
8 | A>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E Autosomal recessive limb-girdle muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000726289 RCV000540129 rs886044103 |
8 | A>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003155103 rs768838951 RCV000713240 RCV000642671 |
9 | A>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768838951 RCV001293214 RCV002222690 |
9 | A>missing | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000729946 RCV000411494 rs1057517064 |
10 | E>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000728183 RCV000642669 rs1448040082 CA356878678 |
10 | E>* | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001150077 RCV000699986 rs1452778513 CA356878675 |
10 | E>G | Autosomal recessive limb-girdle muscular dystrophy type 2E Qualitative or quantitative defects of beta-sarcoglycan [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000808980 RCV000315588 CA10604818 RCV000353900 rs752492870 RCV000778733 |
11 | Q>* | Autosomal recessive limb-girdle muscular dystrophy type 2E Limb-Girdle Muscular Dystrophy, Recessive Qualitative or quantitative defects of beta-sarcoglycan [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002229741 VAR_010421 RCV000399677 RCV000261367 CA2918525 RCV000543057 rs752492870 |
11 | Q>E | Autosomal recessive limb-girdle muscular dystrophy type 2E Qualitative or quantitative defects of beta-sarcoglycan LGMDR4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs796065319 RCV000173088 RCV001852106 |
12 | Q>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356878210 RCV000687273 rs1560568898 |
15 | N>S | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10606338 RCV000289160 RCV003137899 rs529566743 |
23 | R>C | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1553940687 RCV000551664 |
28 | E>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747809412 RCV000411828 CA2918507 |
29 | R>* | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001309094 rs780654411 RCV002509656 |
30 | R>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
rs115928999 CA145911 RCV001288755 RCV002514376 RCV000078413 RCV000547914 |
31 | S>I | Autosomal recessive limb-girdle muscular dystrophy type 2E Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1456517729 CA356878058 RCV001348919 RCV000731129 |
38 | S>R | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_081100 | 38 | S>del | LGMDR4 [UniProt] | Yes | UniProt |
|
RCV000674967 rs1553940680 |
42 | A>VT | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1737305761 RCV001204851 |
44 | Y>* | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697786 CA220518 RCV000078410 rs144743676 |
51 | R>C | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001001285 CA2918496 rs143751283 |
51 | R>H | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA356877911 RCV000733790 rs1320144493 RCV001868990 |
60 | R>G | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001041702 RCV000325132 CA2918492 COSM1618890 rs377071680 |
63 | N>S | Autosomal recessive limb-girdle muscular dystrophy type 2E liver breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1057516360 RCV000412246 |
73 | F>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
rs562380026 CA96786553 RCV000800788 |
76 | A>D | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000642674 RCV000520213 rs143106297 CA2918452 |
82 | I>V | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2918449 RCV000597166 rs138367908 RCV001229013 |
84 | L>P | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553940274 RCV000554563 |
85 | V>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762652676 RCV000666951 RCV002222588 CA2918446 |
89 | V>M | Autosomal recessive limb-girdle muscular dystrophy type 2E Autosomal recessive limb-girdle muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000596054 RCV001267014 RCV000813259 VAR_010422 rs555514820 RCV001779022 CA2918445 |
91 | R>C | Autosomal recessive limb-girdle muscular dystrophy type 2E Autosomal recessive limb-girdle muscular dystrophy Inborn genetic diseases LGMDR4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA119860 rs104893869 RCV000727513 RCV000009257 VAR_010391 |
91 | R>L | Autosomal recessive limb-girdle muscular dystrophy type 2E Variant assessed as Somatic; 0.0 impact. LGMDR4 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000009254 VAR_010392 CA119854 rs104893869 |
91 | R>P | Autosomal recessive limb-girdle muscular dystrophy type 2E LGMDR4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA356877477 rs1018529334 RCV001004989 |
93 | G>A | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000009256 rs104893871 VAR_010393 CA119858 |
100 | M>K | Autosomal recessive limb-girdle muscular dystrophy type 2E LGMDR4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP |
|
RCV000009255 VAR_010394 CA119856 rs104893870 |
108 | L>R | Autosomal recessive limb-girdle muscular dystrophy type 2E LGMDR4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1553940262 CA356877315 RCV000671719 |
112 | Q>* | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_010423 RCV000271872 RCV001267013 RCV000340831 CA202230 RCV000177020 rs150518260 |
114 | S>F | Autosomal recessive limb-girdle muscular dystrophy type 2E Qualitative or quantitative defects of beta-sarcoglycan Inborn genetic diseases LGMDR4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1560567700 CA356877297 RCV000687452 |
115 | D>H | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2918434 RCV002250615 RCV000407437 rs752168132 |
116 | M>V | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000531503 RCV000315486 rs762412447 VAR_010424 CA2918432 |
119 | I>F | Autosomal recessive limb-girdle muscular dystrophy type 2E LGMDR4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001296921 CA2918431 rs764749125 |
121 | P>T | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000987447 rs1578126090 |
122 | L>* | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000302292 rs398123263 RCV000405910 RCV000078412 CA220521 RCV001085043 RCV001293238 |
123 | Y>S | Autosomal recessive limb-girdle muscular dystrophy type 2E Limb-Girdle Muscular Dystrophy, Recessive Qualitative or quantitative defects of beta-sarcoglycan Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA2918427 RCV001049682 rs760596229 |
124 | K>E | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001209561 RCV000627315 rs1013015106 CA96782984 |
131 | R>* | Autosomal recessive limb-girdle muscular dystrophy type 2E Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs201439705 RCV000698803 RCV000346733 CA2918418 RCV000289196 RCV000311681 |
131 | R>Q | Autosomal recessive limb-girdle muscular dystrophy type 2E Limb-Girdle Muscular Dystrophy, Recessive Qualitative or quantitative defects of beta-sarcoglycan Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000734328 rs1560567653 RCV003141732 CA356877147 VAR_010425 |
139 | G>D | Autosomal recessive limb-girdle muscular dystrophy type 2E LGMDR4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001247007 CA2918415 RCV000400638 rs775409967 |
140 | N>S | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356877099 RCV001052314 RCV002553744 rs1446053409 |
145 | V>A | Autosomal recessive limb-girdle muscular dystrophy type 2E Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA119849 VAR_010395 rs28936383 RCV000598498 RCV000009250 |
151 | T>R | Autosomal recessive limb-girdle muscular dystrophy type 2E LGMDR4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000009253 rs1578125670 |
156 | E>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
rs138877636 RCV000725755 RCV000696139 RCV001148509 RCV002519200 CA2918377 RCV000286709 |
166 | I>V | Autosomal recessive limb-girdle muscular dystrophy type 2E Qualitative or quantitative defects of beta-sarcoglycan Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2918375 rs779516489 COSM1642488 VAR_010426 RCV000674583 |
167 | G>S | Autosomal recessive limb-girdle muscular dystrophy type 2E stomach LGMDR4 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA96782093 RCV001047963 rs768628837 |
168 | M>I | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000349985 RCV001148508 CA2918374 rs754465904 RCV000642672 |
168 | M>V | Autosomal recessive limb-girdle muscular dystrophy type 2E Qualitative or quantitative defects of beta-sarcoglycan [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs536728645 RCV000732217 CA2918369 RCV000796636 |
180 | F>L | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_010427 | 182 | T>A | LGMDR4 [UniProt] | Yes | UniProt |
|
RCV000544134 CA2918367 rs751427686 |
182 | T>P | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000410084 rs1057517051 |
183 | D>* | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
CA119851 rs104893868 RCV000009251 |
184 | Y>* | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000642670 VAR_010428 rs1365923535 CA356876804 RCV001726283 |
184 | Y>C | Autosomal recessive limb-girdle muscular dystrophy type 2E probable disease-associated variant found in a patient with a myopathy resembling Becker muscular dystrophy [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs1451834188 RCV001061352 CA356876773 |
186 | T>A | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs762114570 RCV000672896 |
199 | N>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356876529 RCV000691397 rs1560567321 |
201 | Q>P | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2918356 RCV001278314 rs202114068 |
205 | T>S | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553940079 RCV000671402 |
217 | N>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000530736 rs775458201 |
219 | K>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
rs570232197 RCV001526430 RCV000594412 COSM1429990 CA96780948 |
223 | R>C | Autosomal recessive limb-girdle muscular dystrophy type 2E large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes NCI-TCGA dbSNP gnomAD |
|
RCV000391362 rs754898211 CA2918323 RCV002519253 |
223 | R>H | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000359878 RCV001850472 rs762079028 CA2918320 RCV001293068 |
227 | R>H | Autosomal recessive limb-girdle muscular dystrophy type 2E Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1057516515 RCV000410503 |
233 | F>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356875860 RCV000805140 rs1578125133 |
233 | F>S | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356875836 rs1553940073 RCV000556382 |
236 | G>D | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001204378 CA2918313 rs759966387 RCV002561155 |
239 | I>T | Autosomal recessive limb-girdle muscular dystrophy type 2E Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs868151547 RCV000799070 CA96776361 |
239 | I>V | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA356875797 rs1553940064 RCV000537131 |
242 | H>P | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2918304 RCV000597728 RCV001145735 rs146111013 RCV000690649 |
251 | A>V | Autosomal recessive limb-girdle muscular dystrophy type 2E Qualitative or quantitative defects of beta-sarcoglycan Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002518093 RCV000276019 rs886044225 CA10606501 |
253 | N>S | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000992963 CA2918277 RCV000642673 rs201923065 |
262 | M>T | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000558599 RCV000725027 rs116214830 CA2918275 RCV001293172 |
265 | T>I | Autosomal recessive limb-girdle muscular dystrophy type 2E Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000852968 RCV000284183 RCV000295248 CA2918272 RCV000386817 RCV000534489 rs200761715 |
267 | R>C | Autosomal recessive limb-girdle muscular dystrophy type 2E Limb-Girdle Muscular Dystrophy, Recessive Qualitative or quantitative defects of beta-sarcoglycan Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000811885 rs565410997 CA2918262 |
279 | S>G | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000366018 rs879945095 CA10604811 RCV000642667 |
280 | G>S | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs374923265 CA2918261 RCV000595181 RCV000814022 |
281 | D>N | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553939681 RCV000666993 |
286 | K>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000642668 rs1553939675 |
287 | L>missing | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356875045 rs1560565822 RCV000696491 |
298 | V>M | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000818804 CA356875017 rs1578123128 |
301 | T>A | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1408223045 CA356874987 RCV001212277 |
305 | M>I | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000528604 rs573919387 CA96774052 |
314 | C>R | Autosomal recessive limb-girdle muscular dystrophy type 2E [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
CA2918237 RCV000330019 RCV000263039 RCV000244974 RCV000815228 RCV000724882 rs150395645 |
315 | G>R | Autosomal recessive limb-girdle muscular dystrophy type 2E Limb-Girdle Muscular Dystrophy, Recessive Qualitative or quantitative defects of beta-sarcoglycan [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA356878721 rs1437653269 |
2 | A>V | No |
ClinGen gnomAD |
|
|
CA356878709 rs1004565968 |
4 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA96791709 rs1004565968 |
4 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356878699 rs1414363052 |
6 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1030086400 CA96791661 |
6 | A>T | No |
ClinGen TOPMed |
|
|
RCV000337239 rs886044070 CA10606311 |
7 | A>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA356878680 rs1448040082 |
10 | E>K | No |
ClinGen gnomAD |
|
|
CA356878668 rs1311567260 RCV000596503 |
11 | Q>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1266269846 CA356878231 |
12 | Q>R | No |
ClinGen TOPMed |
|
|
CA2918517 rs373470798 |
14 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1578127908 CA356878195 |
17 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 18 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 19 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2918515 rs770155249 |
22 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2918514 rs746363403 |
23 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs770317183 CA2918512 |
24 | E>D | No |
ClinGen ExAC |
|
|
CA356878152 rs1417086108 |
24 | E>K | No |
ClinGen TOPMed |
|
|
CA2918511 rs746577933 |
26 | A>T | No |
ClinGen ExAC |
|
|
rs771814273 CA2918508 |
28 | E>* | No |
ClinGen ExAC |
|
|
rs11541944 CA96786828 |
28 | E>G | No |
ClinGen Ensembl |
|
|
rs11541942 CA96786776 |
30 | R>S | No |
ClinGen Ensembl |
|
|
CA2918505 rs754884547 COSM258680 |
32 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs753684563 CA2918504 |
33 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA356878082 rs1393178001 |
35 | E>K | No |
ClinGen TOPMed |
|
|
rs1156620837 CA356878062 |
37 | N>S | No |
ClinGen gnomAD |
|
|
CA96786750 rs992159910 |
39 | N>I | No |
ClinGen TOPMed |
|
|
CA356878044 rs780085753 |
39 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363676745 CA356878027 |
42 | A>T | No |
ClinGen gnomAD |
|
|
CA96786728 rs868706196 |
44 | Y>C | No |
ClinGen gnomAD |
|
|
CA2918502 rs756028040 |
45 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA356878001 rs1412423636 |
46 | P>A | No |
ClinGen gnomAD |
|
|
rs148525453 CA2918501 |
46 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763102674 CA2918499 |
47 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752976908 CA2918498 |
49 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 50 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1272621952 CA356877961 |
52 | L>P | No |
ClinGen TOPMed |
|
|
CA2918495 rs771423775 |
53 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1230119641 CA356877950 |
54 | K>E | No |
ClinGen gnomAD |
|
|
rs772714902 CA2918493 |
55 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 56 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 56 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2918491 rs747795143 |
64 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000261513 rs886042890 |
67 | C>missing | No |
ClinVar dbSNP |
|
|
rs768545658 CA2918489 |
67 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 71 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176388390 CA356877811 |
74 | I>M | No |
ClinGen TOPMed |
|
|
rs140134296 CA96786554 |
76 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2918488 rs140134296 |
76 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs562380026 CA356877803 |
76 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356877802 rs1425054799 |
77 | V>L | No |
ClinGen gnomAD |
|
|
CA2918487 rs779744199 |
79 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA356877779 rs1578127774 |
80 | L>* | No |
ClinGen Ensembl |
|
|
rs1162416121 CA356877778 |
80 | L>F | No |
ClinGen TOPMed |
|
|
rs146150527 CA2918486 |
80 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1560568792 CA356877776 |
81 | I>V | No |
ClinGen Ensembl |
|
|
CA356877570 rs1160552123 |
82 | I>M | No |
ClinGen gnomAD |
|
|
CA96783300 rs993349564 |
83 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs773931483 CA356877555 |
85 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773931483 CA2918448 |
85 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96783260 rs901778119 |
86 | I>L | No |
ClinGen TOPMed |
|
|
CA356877541 rs1344995662 |
86 | I>T | No |
ClinGen TOPMed |
|
|
CA2918444 rs104893869 |
91 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96783216 rs1018529334 |
93 | G>E | No |
ClinGen TOPMed |
|
|
rs770815543 CA2918442 |
93 | G>R | No |
ClinGen ExAC |
|
|
CA96783195 rs1007182251 |
97 | C>R | No |
ClinGen TOPMed |
|
|
CA96783185 rs763806099 |
97 | C>Y | No |
ClinGen Ensembl |
|
|
rs1481474762 CA356877428 |
98 | D>A | No |
ClinGen gnomAD |
|
|
CA356877431 rs1490052317 |
98 | D>H | No |
ClinGen TOPMed |
|
|
rs1281884191 CA356877414 |
99 | S>T | No |
ClinGen gnomAD |
|
|
CA2918440 rs755074922 |
100 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2918439 rs749524513 |
103 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA356877370 rs1254559703 |
103 | H>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 103 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356877345 rs1432539299 |
107 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1055923 rs750773622 CA2918436 |
109 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs750773622 CA2918437 |
109 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1369411627 CA356877335 |
109 | R>P | No |
ClinGen TOPMed |
|
|
CA2918433 rs763653745 |
116 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1449144480 CA356877267 |
119 | I>S | No |
ClinGen gnomAD |
|
|
CA356877254 rs1430463293 |
121 | P>L | No |
ClinGen TOPMed |
|
|
CA2918430 rs764749125 |
121 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96783077 rs1004291753 |
122 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1004291753 CA356877252 |
122 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356877247 rs1287661105 |
123 | Y>H | No |
ClinGen gnomAD |
|
|
rs749276608 CA2918425 |
125 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2918424 rs749276608 |
125 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1560567674 RCV000713241 CA356877231 |
125 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA96783055 rs11541943 |
126 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769837788 CA2918422 |
126 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2918423 rs11541943 |
126 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs11541943 CA356877228 |
126 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10605418 RCV000343677 rs886043353 |
127 | V>A | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA2918421 rs746101699 |
127 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746101699 CA96783038 |
127 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323470336 CA356877220 |
128 | G>E | No |
ClinGen gnomAD |
|
|
rs1027158773 CA96783014 |
128 | G>R | No |
ClinGen Ensembl |
|
|
rs751427729 CA2918420 |
129 | G>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752080167 CA2918417 |
136 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA356877153 rs1391042030 |
138 | T>I | No |
ClinGen gnomAD |
|
|
CA356877156 rs1367297234 |
138 | T>S | No |
ClinGen Ensembl |
|
|
CA356877152 rs1188901165 |
139 | G>S | No |
ClinGen gnomAD |
|
|
CA356877138 rs1198067852 |
141 | N>D | No |
ClinGen gnomAD |
|
|
CA2918414 rs752109221 |
141 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752109221 CA356877135 |
141 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356877136 rs752109221 |
141 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202432740 CA356877122 |
143 | P>A | No |
ClinGen gnomAD |
|
|
CA356877103 rs1351172739 |
144 | I>M | No |
ClinGen gnomAD |
|
|
CA2918389 rs147995730 |
144 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2918388 rs147995730 |
144 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2918390 rs765964499 |
144 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA356877101 rs767354568 |
145 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767354568 CA2918387 |
145 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356877097 rs1358824250 |
146 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 147 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 147 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2918386 rs201006370 |
148 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1160443443 CA356877062 |
151 | T>A | No |
ClinGen TOPMed |
|
|
CA96782238 rs1009256568 |
152 | K>R | No |
ClinGen gnomAD |
|
|
CA356877048 rs1156840773 |
153 | L>F | No |
ClinGen gnomAD |
|
|
rs893460824 CA96782222 |
154 | S>G | No |
ClinGen Ensembl |
|
|
CA96782216 rs1030740127 |
158 | N>D | No |
ClinGen TOPMed |
|
|
CA356877009 rs1412020365 |
158 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs146960385 CA2918384 |
160 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356876991 rs1482044185 |
161 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs116157710 CA2918380 |
163 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA96782134 rs368795726 |
163 | T>I | No |
ClinGen ESP gnomAD |
|
|
CA2918379 rs747259092 |
165 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA2918373 rs748753160 |
168 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs749448157 CA356876946 |
169 | Q>* | No |
ClinGen gnomAD |
|
|
rs749448157 CA96782088 |
169 | Q>E | No |
ClinGen gnomAD |
|
|
RCV000346173 rs886043684 CA10605823 |
170 | F>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs779541821 CA2918372 |
173 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA356876910 rs750144469 |
174 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1160583491 CA356876909 |
174 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 174 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356876882 rs1421547412 |
178 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA96782031 rs943840432 |
178 | I>T | No |
ClinGen Ensembl |
|
|
CA356876832 rs1480433221 |
182 | T>K | No |
ClinGen TOPMed |
|
|
rs1182893241 CA356876812 |
184 | Y>H | No |
ClinGen TOPMed |
|
|
rs1246544245 CA356876794 |
185 | E>K | No |
ClinGen gnomAD |
|
|
CA356876766 rs1208533893 |
186 | T>S | No |
ClinGen gnomAD |
|
|
CA356876746 rs1366469293 |
187 | H>Q | No |
ClinGen TOPMed |
|
|
rs1220086248 CA356876678 |
190 | H>R | No |
ClinGen gnomAD |
|
|
RCV000265848 rs886042546 |
191 | L>missing | No |
ClinVar dbSNP |
|
|
rs1321180638 CA356876663 |
191 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
rs763017544 CA2918365 |
193 | S>T | No |
ClinGen ExAC |
|
|
rs776786272 CA2918364 |
195 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs766580370 CA2918363 |
196 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA356876586 rs760797486 |
197 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2918362 rs760797486 |
197 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1434110900 CA356876576 |
198 | L>* | No |
ClinGen gnomAD |
|
|
rs1434110900 CA356876572 |
198 | L>S | No |
ClinGen gnomAD |
|
|
rs1362492162 CA356876554 |
199 | N>S | No |
ClinGen gnomAD |
|
|
rs773554421 CA2918360 |
201 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs201931208 CA2918358 |
202 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs886044156 CA356876484 |
204 | S>A | No |
ClinGen gnomAD |
|
|
rs886044156 CA10606417 RCV000376124 |
204 | S>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA2918357 rs202114068 |
205 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs749804312 CA2918355 |
206 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA96781013 rs370286565 |
210 | S>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs370286565 CA356876302 |
210 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2918331 rs746673205 |
211 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2918332 rs770552656 |
211 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465860886 CA356876259 |
213 | T>A | No |
ClinGen gnomAD |
|
|
CA2918330 rs777698793 |
213 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs758338829 COSM3946420 CA2918328 |
214 | S>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs752652695 CA2918327 |
214 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs778962451 CA356876228 |
215 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs778962451 CA2918326 |
215 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1477801627 CA356876217 |
216 | L>I | No |
ClinGen TOPMed |
|
|
CA356876179 rs1421058695 |
218 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 219 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2918322 rs750447057 |
225 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs550062936 CA2918321 |
227 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs762079028 CA356876050 |
227 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287106770 CA356876045 |
228 | G>* | No |
ClinGen gnomAD |
|
|
rs763354944 CA2918317 |
231 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2918316 rs775855700 |
232 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356875988 rs1395152494 |
232 | V>I | No |
ClinGen gnomAD |
|
|
rs1456077120 CA356875856 |
234 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159166322 CA356875824 |
238 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356875815 rs1482530778 |
240 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2918312 rs200018958 |
240 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA2918310 rs540011509 |
243 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs570902880 CA2918309 |
244 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2918308 rs747907287 |
246 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2918307 rs747907287 |
246 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283480940 CA356875762 |
247 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2918305 rs754883035 |
250 | K>N | No |
ClinGen ExAC |
|
| rs1352482493 | 251 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs569029693 CA2918283 |
255 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2918282 rs149121189 |
256 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356875459 rs1405633104 |
259 | G>V | No |
ClinGen gnomAD |
|
|
CA2918278 rs765631976 |
261 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1048535422 CA96774287 |
262 | M>V | No |
ClinGen TOPMed |
|
|
rs1375874563 CA356875403 |
265 | T>A | No |
ClinGen gnomAD |
|
|
CA356875393 rs1253643464 |
266 | T>I | No |
ClinGen TOPMed |
|
|
rs114778658 CA2918271 |
267 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356875385 rs114778658 |
267 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773913492 CA2918270 |
268 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs768472971 CA2918269 |
269 | P>S | Variant assessed as Somatic; 0.000693 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748986456 CA96774229 |
270 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748986456 CA96774230 |
270 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748986456 CA2918268 |
270 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96774197 rs907615207 |
272 | S>C | No |
ClinGen gnomAD |
|
|
rs769652806 CA2918266 |
273 | S>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000658997 CA2918264 rs777817786 |
278 | G>D | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1399889282 CA356875253 |
280 | G>D | No |
ClinGen gnomAD |
|
|
CA2918260 rs545065102 |
284 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754115634 RCV000597982 CA356875205 |
284 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs754115634 CA2918259 |
284 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780573613 CA2918258 |
285 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs756671704 CA2918257 |
286 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA356875154 rs1296865393 |
288 | C>F | No |
ClinGen TOPMed |
|
|
rs1441035912 CA356875142 |
289 | M>T | No |
ClinGen gnomAD |
|
|
rs1235156372 CA356875108 |
292 | D>H | No |
ClinGen TOPMed |
|
|
CA2918256 rs751033615 |
293 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2918255 rs767102412 |
294 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs751101913 CA2918253 |
295 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs951877624 CA96774127 |
300 | V>G | No |
ClinGen Ensembl |
|
|
CA96774128 COSM3825961 rs955923018 |
300 | V>L | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs775088127 CA2918251 |
301 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356875015 rs775088127 |
301 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1578123128 CA356875018 |
301 | T>P | No |
ClinGen Ensembl |
|
|
CA2918250 rs775088127 |
301 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356875013 rs113313283 |
302 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113313283 CA2918249 |
302 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2918248 rs759466020 COSM1540271 |
302 | S>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA356874994 rs1335871461 |
304 | N>K | No |
ClinGen gnomAD |
|
|
rs776593068 RCV000179276 CA246551 |
305 | M>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2918247 rs772119272 |
306 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA2918246 rs748130355 |
309 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2918245 rs779083146 |
310 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 311 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs542522349 CA2918241 |
312 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750940828 CA2918240 |
313 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA96774059 rs960868232 |
313 | P>S | No |
ClinGen TOPMed |
|
|
rs556972226 CA2918236 |
316 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
1 associated diseases with Q16585
[MIM: 604286]: Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4)
An autosomal recessive degenerative myopathy characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate. {ECO:0000269|PubMed:30345904, ECO:0000269|PubMed:8968749, ECO:0000269|PubMed:9032047, ECO:0000269|PubMed:9565988, ECO:0000269|PubMed:9631401}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive degenerative myopathy characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate. {ECO:0000269|PubMed:30345904, ECO:0000269|PubMed:8968749, ECO:0000269|PubMed:9032047, ECO:0000269|PubMed:9565988, ECO:0000269|PubMed:9631401}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q16585
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q16585 | |||
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| dystrophin-associated glycoprotein complex | A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| sarcoglycan complex | A protein complex formed of four sarcoglycans plus sarcospan; there are six known sarcoglycans: alpha-, beta-, gamma-, delta-, epsilon- and zeta-sarcoglycan; all are N-glycosylated single-pass transmembrane proteins. The sarcoglycan-sarcospan complex is a subcomplex of the dystrophin glycoprotein complex, and is fixed to the dystrophin axis by a lateral association with the dystroglycan complex. |
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cardiac muscle cell development | The process whose specific outcome is the progression of a cardiac muscle cell over time, from its formation to the mature state. |
| muscle organ development | The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work. |
| vascular associated smooth muscle cell development | The process aimed at the progression of a vascular smooth muscle cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. A vascular smooth muscle cell is a non-striated, elongated, spindle-shaped cell found lining the blood vessels. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAAAAAAE | QQSSNGPVKK | SMREKAVERR | SVNKEHNSNF | KAGYIPIDED | RLHKTGLRGR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KGNLAICVII | LLFILAVINL | IITLVIWAVI | RIGPNGCDSM | EFHESGLLRF | KQVSDMGVIH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PLYKSTVGGR | RNENLVITGN | NQPIVFQQGT | TKLSVENNKT | SITSDIGMQF | FDPRTQNILF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| STDYETHEFH | LPSGVKSLNV | QKASTERITS | NATSDLNIKV | DGRAIVRGNE | GVFIMGKTIE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FHMGGNMELK | AENSIILNGS | VMVSTTRLPS | SSSGDQLGSG | DWVRYKLCMC | ADGTLFKVQV |
| 310 | |||||
| TSQNMGCQIS | DNPCGNTH |