Q9Y5P6
PR
Gene name |
GMPPB |
Protein name |
Mannose-1-phosphate guanyltransferase beta |
Names |
GDP-mannose pyrophosphorylase B, GTP-mannose-1-phosphate guanylyltransferase beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:29925 |
EC number |
2.7.7.13: Nucleotidyltransferases |
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
4 structures for Q9Y5P6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7D72 | EM | 340 A | E/F/G/H/I/J/K/L | 1-360 | PDB |
| 7D73 | EM | 300 A | E/F/G/H/I/J/K/L | 1-360 | PDB |
| 7D74 | EM | 310 A | E/F/G/H/I/J/K/L | 1-360 | PDB |
| AF-Q9Y5P6-F1 | Predicted | AlphaFoldDB |
338 variants for Q9Y5P6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001330457 rs1183380163 |
13 | R>L | Autosomal recessive limb-girdle muscular dystrophy type 2T [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1438380704 RCV000697038 CA352831713 |
21 | T>N | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_070142 CA144557 rs397509424 RCV000054435 |
22 | P>S | Autosomal recessive limb-girdle muscular dystrophy type 2T MDDGC14; causes protein aggregation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001331794 RCV000533184 RCV000444697 RCV000610921 RCV002513711 VAR_070143 RCV000054440 CA144567 rs142336618 |
27 | D>H | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Autosomal recessive limb-girdle muscular dystrophy type 2T Inborn genetic diseases Muscular dystrophy MDDGC14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001267547 CA2405706 rs762117823 |
28 | F>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000684892 RCV000209926 CA090934 VAR_070144 RCV000054438 RCV000493576 rs397509426 |
32 | P>L | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T MDDGB14; causes protein aggregation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000810959 rs1575297292 VAR_079761 RCV002282374 CA352831442 |
32 | P>S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MDDGC14 [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV000801856 rs1348189028 CA352831347 |
37 | Q>* | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1575297274 CA352831298 RCV000800593 |
39 | E>G | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001298920 CA352831281 rs1445731992 |
40 | A>P | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2080459950 RCV001055548 |
43 | A>V | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs145671483 RCV002293248 RCV002464329 RCV000823166 CA2405667 |
54 | S>R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1245162935 CA352830313 RCV001232036 RCV001751452 |
72 | G>A | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000685850 rs1245162935 CA352830317 |
72 | G>E | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000651274 rs1553692045 CA352830297 |
73 | I>T | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000054434 CA144554 rs397509423 |
74 | R>* | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000821842 rs1191822017 |
91 | A>missing | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1559697587 RCV000686546 |
96 | L>missing | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777323266 RCV001208354 |
97 | L>missing | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352829831 RCV001224623 rs1359728758 |
100 | T>I | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2405603 RCV003130047 rs368542417 RCV000797803 |
102 | D>H | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10576145 rs875989851 RCV001814120 RCV000211125 |
103 | P>L | Autosomal recessive limb-girdle muscular dystrophy type 2T [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000550887 rs141201072 CA2405599 |
111 | V>M | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001213231 CA352829581 rs1272084445 |
119 | A>D | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000678462 RCV003104002 CA352829578 rs1559697515 |
120 | M>V | Autosomal recessive limb-girdle muscular dystrophy type 2T [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553691975 RCV000527021 |
123 | F>missing | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758366693 CA2405593 RCV000651276 |
125 | R>Q | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_035372 rs34345884 CA2405592 RCV001795457 RCV000242290 RCV000539042 |
126 | H>D | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA74542204 rs367734644 RCV001330456 |
130 | E>K | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV001216408 rs2080445379 |
130 | E>R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000793053 RCV001759493 CA2405586 VAR_079762 rs145535498 |
132 | S>C | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MDDGC14 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs2080436965 RCV001216870 |
145 | G>A | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2405551 RCV001060368 rs771732077 |
145 | G>S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1553691918 RCV001814186 RCV000551670 |
153 | T>missing | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001592967 RCV000993849 RCV000815814 CA2405548 rs202013297 |
153 | T>I | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Autosomal recessive limb-girdle muscular dystrophy type 2T [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs374497499 CA352828731 RCV000814700 |
158 | R>P | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001070364 CA352828721 rs752805529 |
160 | V>L | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003142186 rs752805529 CA2405544 RCV001226181 |
160 | V>M | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001208227 rs2080435262 |
170 | K>N | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693068 rs147966522 COSM3357719 COSM3357718 CA2405533 RCV000729679 |
175 | M>I | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16609470 rs1060499721 RCV000449525 |
177 | I>V | Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001065000 rs2080434558 |
179 | S>G | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000527815 rs1466685 |
184 | Q>= | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397509425 RCV000054436 VAR_070145 RCV000623944 RCV000503216 RCV001781385 CA144560 RCV000200261 RCV000054437 |
185 | R>C | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy Inborn genetic diseases MDDGB14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs755165049 RCV000730511 CA2405525 RCV001855639 |
185 | R>H | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA352828513 rs1559697016 RCV000686689 |
190 | P>R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2080431779 RCV001046286 |
197 | V>F | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001317773 CA2405501 rs765573379 |
199 | P>R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000552493 rs1553691853 |
203 | K>missing | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759137392 RCV000687589 CA2405497 |
210 | M>T | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001314977 rs2080430729 |
213 | Q>R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761714818 RCV000698360 RCV001542746 VAR_079763 RCV001814219 RCV001784331 CA2405474 |
219 | I>T | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MDDGC14 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs2080427976 RCV001197852 |
229 | M>missing | Autosomal recessive limb-girdle muscular dystrophy type 2T [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_079764 | 241 | P>S | MDDGC14 [UniProt] | Yes | UniProt |
|
rs2080426663 RCV001241608 |
243 | R>missing | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749730219 CA2405464 RCV000251834 RCV001226319 |
243 | R>Q | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001036720 rs771028755 CA2405465 RCV002251546 |
243 | R>W | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000801719 CA74541553 rs1015055492 |
253 | N>D | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000705546 CA352827996 rs1559696765 |
253 | N>S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10576144 VAR_079765 RCV002515608 rs875989850 RCV000430158 RCV000211128 |
254 | V>M | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Autosomal recessive limb-girdle muscular dystrophy type 2T MDDGC14 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs746357591 RCV003106106 RCV001054940 CA2405437 |
261 | R>C | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs763971677 CA2405433 RCV000692931 |
264 | Q>* | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000695460 CA352827714 rs1559696652 |
264 | Q>H | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000799524 rs370840899 CA2405430 RCV001576041 |
271 | N>S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003114235 RCV001814035 RCV000520160 VAR_070146 RCV000054439 CA090892 RCV000553832 rs202160208 RCV001266808 RCV001542745 RCV000209893 |
287 | R>Q | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Autosomal recessive limb-girdle muscular dystrophy type 2T GMPPB-Related Disorders Inborn genetic diseases MDDGB14 and MDDGC14 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000609930 VAR_079766 RCV000698947 RCV001508147 rs142908436 RCV000211126 CA2405424 |
287 | R>W | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy MDDGC14 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000817393 CA352827252 rs769346834 |
288 | R>P | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs139668958 CA2405421 RCV001307710 RCV001569155 |
290 | T>M | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000651275 rs748809549 CA74541431 |
293 | R>Q | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_079767 RCV001571517 rs756682220 CA2405419 RCV000651272 |
293 | R>W | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MDDGC14; slight reduction in protein abundance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA2405415 rs144040971 RCV001593229 RCV001056881 |
296 | R>Q | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001303335 rs1186936513 CA352826895 |
306 | C>W | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs371188899 CA2405407 RCV000529420 RCV000522572 RCV000624021 |
311 | R>C | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs144421130 CA2405404 RCV000796984 |
313 | R>C | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Variant assessed as Somatic; 0.0002314 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs775910135 RCV001317146 CA2405403 |
313 | R>H | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1343235792 CA352826784 RCV001071870 |
314 | V>L | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs559784211 VAR_079768 RCV003128645 CA2405379 RCV000691392 RCV003140092 |
318 | V>A | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MDDGC14 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs780867515 RCV000690678 CA2405377 |
319 | R>C | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768327938 RCV000651277 COSM1242319 CA2405376 RCV003129968 |
319 | R>H | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 oesophagus [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_079769 RCV001267546 rs781114909 CA2405373 |
322 | N>K | Inborn genetic diseases MDDGC14; no change in protein abundance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP ClinGen ExAC TOPMed gnomAD |
|
CA2405372 RCV001339839 RCV000492872 rs758284245 |
323 | V>M | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA144570 VAR_070147 RCV000440664 RCV000651278 RCV001330455 rs199922550 RCV000623470 RCV000501778 RCV000054441 |
330 | V>I | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy Inborn genetic diseases MDDGC14; causes protein aggregation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs2080415182 RCV001203688 |
333 | N>Y | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001836725 RCV000651273 VAR_070148 CA144551 RCV000054433 RCV000054432 RCV002513710 RCV000788090 rs397509422 |
334 | D>N | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Autosomal recessive limb-girdle muscular dystrophy type 2T Inborn genetic diseases MDDGA14; causes protein aggregation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA352826125 rs1553691683 RCV000651271 |
337 | Y>H | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001036803 CA2405366 rs753014812 |
339 | N>S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1064796834 RCV000478147 CA16617993 VAR_079770 |
340 | G>R | MDDGC14; slight reduction in protein abundance; shows an increased propensity to form punctate aggregates [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1409825474 RCV003132368 RCV001266809 CA352826042 |
343 | V>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs776117691 RCV001051321 CA352825987 |
347 | K>R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs184127567 RCV000726214 CA2405359 RCV001081525 |
350 | G>S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000705475 CA2405355 VAR_079771 rs771861177 |
357 | R>H | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MDDGC14; no change in protein abundance; shows an increased propensity to form punctate aggregates [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1553691662 CA352825821 RCV000537490 |
359 | I>M | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781224121 CA2405713 |
3 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 9 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1254280503 CA352831963 |
10 | Y>C | No |
ClinGen TOPMed |
|
|
CA352831886 rs1183380163 |
13 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs933697704 CA74542863 |
15 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA352831807 rs1575297373 |
17 | L>P | No |
ClinGen Ensembl |
|
|
CA352831792 rs1245350017 |
18 | T>R | No |
ClinGen gnomAD |
|
|
rs1250300381 CA352831744 |
20 | S>N | No |
ClinGen gnomAD |
|
|
CA352831687 rs1204528532 |
22 | P>L | No |
ClinGen gnomAD |
|
|
rs1310563727 CA352831665 |
24 | P>S | No |
ClinGen gnomAD |
|
|
CA352831590 rs1575297329 |
26 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 27 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765589830 CA2405707 |
27 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1404381530 CA352831500 |
29 | C>* | No |
ClinGen gnomAD |
|
|
rs754181889 CA2405705 |
30 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs764625823 CA2405704 |
31 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352831458 rs1298820409 |
31 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 38 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163583695 CA352831325 |
38 | V>M | No |
ClinGen gnomAD |
|
|
rs1387498672 CA352831273 |
40 | A>E | No |
ClinGen gnomAD |
|
|
rs1387498672 CA352831270 |
40 | A>G | No |
ClinGen gnomAD |
|
|
rs1387498672 CA352831268 |
40 | A>V | No |
ClinGen gnomAD |
|
|
rs762520709 CA2405701 |
41 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2405700 rs772962321 |
42 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA352831225 rs1177417095 |
43 | A>T | No |
ClinGen gnomAD |
|
|
CA2405673 rs377262833 |
44 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1175099986 CA352831071 |
46 | V>M | No |
ClinGen gnomAD |
|
|
CA352831046 rs1575296975 |
47 | D>Y | No |
ClinGen Ensembl |
|
|
CA352830997 rs1575296968 |
49 | V>G | No |
ClinGen Ensembl |
|
|
CA352830973 rs1559697973 |
50 | I>V | No |
ClinGen Ensembl |
|
|
rs553207329 CA2405669 |
51 | L>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs1446331870 CA352830919 |
53 | V>G | No |
ClinGen gnomAD |
|
|
rs145671483 CA352830904 |
54 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1206607511 CA352830896 |
54 | S>N | No |
ClinGen gnomAD |
|
|
rs756463595 CA2405666 |
54 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352830817 rs1427597892 |
56 | M>I | No |
ClinGen TOPMed |
|
|
CA352830838 rs1262819327 |
56 | M>V | No |
ClinGen gnomAD |
|
|
CA352830795 rs1224354030 |
57 | S>L | No |
ClinGen gnomAD |
|
|
rs1575296892 CA352830749 |
59 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 60 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1327487869 CA352830711 |
61 | E>D | No |
ClinGen gnomAD |
|
|
rs201670162 CA74542644 |
61 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 64 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352830640 rs755508006 |
64 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA2405663 rs755508006 |
64 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs889604303 CA74542631 |
66 | A>T | No |
ClinGen TOPMed |
|
|
CA2405661 rs764824225 |
66 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2405660 rs761570774 |
69 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763825301 CA2405658 |
70 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA352830265 rs1231333069 |
74 | R>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752598051 CA2405635 |
75 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs945019622 CA74542407 |
75 | I>M | No |
ClinGen TOPMed |
|
|
CA74542406 rs777491435 |
76 | S>F | No |
ClinGen Ensembl |
|
|
CA2405634 rs759478164 |
79 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA74542377 rs914888062 |
79 | H>Q | No |
ClinGen TOPMed |
|
|
CA2405633 rs759478164 |
79 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs774235000 CA2405632 |
80 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA352830098 rs771025862 |
81 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210237000 CA352830094 |
82 | E>K | No |
ClinGen TOPMed |
|
|
CA352830065 rs1371613377 |
83 | P>R | No |
ClinGen gnomAD |
|
|
CA352830037 rs1459736585 |
85 | G>A | No |
ClinGen TOPMed |
|
|
rs1258313263 CA352829975 |
88 | G>R | No |
ClinGen TOPMed |
|
|
rs1414376409 CA352829969 |
88 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs867770112 CA74542320 |
89 | P>L | No |
ClinGen Ensembl |
|
|
CA74542321 rs953895299 |
89 | P>S | No |
ClinGen TOPMed |
|
|
rs1174530574 CA352829940 |
91 | A>V | No |
ClinGen gnomAD |
|
|
CA352829919 rs1430042828 |
93 | A>G | No |
ClinGen gnomAD |
|
|
rs1232189076 CA352829927 |
93 | A>T | No |
ClinGen TOPMed |
|
|
CA2405609 rs765169109 |
94 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352829909 rs1485153015 |
94 | R>H | No |
ClinGen gnomAD |
|
|
rs762098688 CA2405608 |
95 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2405607 rs776950715 |
96 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs972817970 CA74542308 |
98 | S>A | No |
ClinGen Ensembl |
|
|
rs769164977 CA2405605 |
98 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1283341770 CA352829857 |
99 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA352829837 rs1220893480 |
100 | T>A | No |
ClinGen gnomAD |
|
|
CA352829829 rs1431279139 |
101 | A>T | No |
ClinGen gnomAD |
|
|
CA2405602 rs772763615 |
103 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 104 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs893009553 CA74542294 |
107 | L>F | No |
ClinGen TOPMed |
|
|
CA352829684 rs1451789910 |
111 | V>G | No |
ClinGen gnomAD |
|
|
CA2405598 rs374586408 |
113 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1201435538 CA352829616 |
116 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1415281521 CA352829605 |
117 | F>L | No |
ClinGen TOPMed |
|
|
CA352829609 rs1415281521 |
117 | F>V | No |
ClinGen TOPMed |
|
|
rs1193823625 CA352829589 |
118 | Q>R | No |
ClinGen TOPMed |
|
|
CA2405597 rs780875521 |
120 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2405596 rs754597337 |
121 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs766144577 CA2405594 |
122 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1305706920 CA352829557 |
122 | Q>R | No |
ClinGen gnomAD |
|
|
CA352829515 rs1215057042 |
125 | R>W | No |
ClinGen gnomAD |
|
|
CA352829502 rs1383720066 |
126 | H>R | No |
ClinGen gnomAD |
|
|
CA352829505 rs34345884 |
126 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1304678997 CA352829484 |
127 | H>R | No |
ClinGen gnomAD |
|
|
CA2405591 rs765388198 |
129 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000520596 CA352829423 rs1432142017 |
131 | G>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA2405589 rs776829587 |
131 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA352829425 rs1432142017 |
131 | G>D | No |
ClinGen gnomAD |
|
|
rs145535498 CA74542198 |
132 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760967310 CA2405587 |
132 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA352828866 rs1375627352 |
138 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs776127816 CA2405555 |
141 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352828781 rs778764067 |
150 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA352828782 rs1185784683 |
150 | E>V | No |
ClinGen TOPMed |
|
|
rs1269234206 CA352828752 |
155 | R>C | No |
ClinGen gnomAD |
|
|
CA352828739 rs1559697205 |
157 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2405546 rs374497499 |
158 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1445712548 CA352828732 |
158 | R>W | No |
ClinGen gnomAD |
|
|
rs756215708 CA352828723 |
159 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352828717 rs1575295555 |
160 | V>G | No |
ClinGen Ensembl |
|
|
CA352828715 rs1210818171 |
161 | E>K | No |
ClinGen gnomAD |
|
|
CA352828694 rs1559697183 RCV000760617 |
164 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA352828688 CA352828687 rs1293899834 |
164 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1575295516 CA352828681 |
165 | V>G | No |
ClinGen Ensembl |
|
|
rs1382075638 CA352828672 |
167 | V>L | No |
ClinGen gnomAD |
|
|
CA2405539 rs534685803 |
169 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74541952 rs147672249 |
172 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2405536 rs768175595 |
173 | A>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1046260 rs1559697161 CA352828631 |
173 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA2405534 rs775034121 |
175 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs142451427 CA2405531 |
176 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs777909174 CA2405528 |
181 | A>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1262596911 CA352828570 |
183 | L>V | No |
ClinGen gnomAD |
|
|
rs756092989 CA352828564 |
184 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756092989 CA2405527 |
184 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 184 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352828562 rs1466685 |
184 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352828563 rs1466685 |
184 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_035373 rs1466685 CA2405526 |
184 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA352828545 rs1300206558 |
187 | Q>R | No |
ClinGen gnomAD |
|
|
rs781132109 CA2405507 |
188 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2405506 rs146287156 |
191 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2405504 rs780301264 |
193 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352828472 rs1559696999 |
196 | E>D | No |
ClinGen Ensembl |
|
|
CA2405503 rs758587073 |
196 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA352828453 rs765573379 |
199 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2405500 rs757709801 |
201 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1483677385 CA352828437 |
202 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 204 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352828412 rs1220901850 |
205 | G>E | No |
ClinGen gnomAD |
|
|
CA352828392 rs1228563723 |
208 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 208 | Y>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352828384 rs1277277997 |
209 | A>G | No |
ClinGen gnomAD |
|
|
CA2405496 rs773705196 |
210 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA352828381 rs1350560977 |
210 | M>V | No |
ClinGen gnomAD |
|
|
CA352828359 rs1164452780 |
213 | Q>K | No |
ClinGen gnomAD |
|
|
rs1457947519 CA352828339 |
214 | G>D | No |
ClinGen gnomAD |
|
|
CA2405477 rs762703013 |
215 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs750052068 CA2405476 |
217 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2405472 rs768704043 |
224 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2405471 rs760516067 |
227 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1465033975 CA352828241 |
228 | G>D | No |
ClinGen gnomAD |
|
|
rs1269487710 CA352828232 |
229 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1187837248 CA352828236 |
229 | M>V | No |
ClinGen TOPMed |
|
|
RCV000512707 rs1553691815 CA352828228 |
230 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2405470 rs775559778 |
231 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA352828136 rs1436093055 |
238 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 238 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352828132 rs1367547667 |
239 | K>R | No |
ClinGen gnomAD |
|
|
rs1334953252 CA352828121 |
240 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2405466 rs373645292 |
242 | E>Q | No |
ClinGen ESP ExAC |
|
|
CA2405462 rs756662069 |
246 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2405461 rs141074520 |
247 | G>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA2405460 rs779737240 |
248 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA74541559 rs994922049 |
249 | G>D | No |
ClinGen TOPMed |
|
|
rs1169551741 CA352828037 |
250 | I>T | No |
ClinGen gnomAD |
|
|
rs11547262 CA74541558 |
251 | V>L | No |
ClinGen Ensembl |
|
|
rs749927415 CA2405458 |
252 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291694905 CA352827953 |
255 | L>P | No |
ClinGen TOPMed |
|
| rs1314961622 | 257 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2405436 rs778275046 |
261 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 261 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352827766 rs778275046 |
261 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1412198244 CA352827753 |
262 | I>F | No |
ClinGen gnomAD |
|
|
CA352827756 rs1412198244 |
262 | I>V | No |
ClinGen gnomAD |
|
|
CA2405434 rs753366203 RCV000480038 |
263 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1304295361 CA352827719 |
264 | Q>R | No |
ClinGen TOPMed |
|
|
rs755951550 CA2405432 |
267 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA352827623 rs1203837484 |
268 | I>M | No |
ClinGen TOPMed |
|
|
CA352827628 rs1559696635 |
268 | I>T | No |
ClinGen Ensembl |
|
|
CA352827618 RCV001200165 rs1172092305 |
269 | G>D | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1459776361 CA352827606 |
270 | P>S | No |
ClinGen TOPMed |
|
|
CA352827577 rs370840899 |
271 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1575294471 CA352827540 |
273 | S>N | No |
ClinGen Ensembl |
|
|
CA2405428 rs774498980 |
273 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74541455 rs977253436 |
275 | G>R | No |
ClinGen TOPMed |
|
|
rs766298888 CA2405427 |
276 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA352827470 rs1488679302 |
278 | V>M | No |
ClinGen gnomAD |
|
|
CA2405425 rs748848527 |
281 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA352827378 rs1200883068 |
282 | D>N | No |
ClinGen gnomAD |
|
|
rs1575294408 CA352827350 |
283 | G>A | No |
ClinGen Ensembl |
|
|
CA2405422 rs769346834 |
288 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA352827258 rs1230808770 |
288 | R>W | No |
ClinGen gnomAD |
|
|
CA352827187 rs1296963668 |
291 | V>M | No |
ClinGen TOPMed |
|
|
rs748809549 CA2405418 |
293 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748809549 CA352827151 |
293 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294974745 CA352827137 |
294 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA352827144 rs1575294360 |
294 | D>N | No |
ClinGen Ensembl |
|
|
rs777330041 CA2405417 |
295 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777330041 CA74541428 |
295 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755758590 CA2405416 |
296 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755758590 CA74541412 |
296 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2405413 rs754911891 |
298 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766498097 CA2405412 |
298 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2405411 rs766498097 |
298 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433602114 CA352827048 |
299 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1200271850 CA352827042 |
300 | H>Y | No |
ClinGen TOPMed |
|
|
rs762995747 CA352826955 |
304 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2405410 rs762995747 |
304 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235464023 CA352826912 |
306 | C>Y | No |
ClinGen gnomAD |
|
|
rs1464582508 CA352826889 |
307 | I>V | No |
ClinGen gnomAD |
|
|
CA2405409 rs750488885 |
308 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs765625160 CA2405408 |
310 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA2405406 rs777150806 |
311 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769076864 CA2405405 |
312 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74541377 rs775910135 |
313 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352826788 rs1343235792 |
314 | V>M | No |
ClinGen TOPMed |
|
|
rs1320791983 CA352826772 |
315 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 316 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352826747 rs1436735276 |
316 | Q>H | No |
ClinGen gnomAD |
|
|
CA352826310 CA352826307 rs758284245 |
323 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750310103 CA2405370 |
324 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750310103 CA74541268 |
324 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352826256 COSM3775163 COSM3775162 rs1356812347 |
328 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA352826215 rs1370972275 |
330 | V>A | No |
ClinGen gnomAD |
|
|
rs1370972275 CA352826213 |
330 | V>G | No |
ClinGen gnomAD |
|
|
CA543050841 rs1177726651 |
333 | N>S | No |
ClinGen gnomAD |
|
|
CA352826167 rs397509422 |
334 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs2080415058 RCV001281580 |
335 | E>V | No |
ClinVar dbSNP |
|
| TCGA novel | 337 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2405364 rs759988950 |
340 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA352826059 rs1575293863 |
342 | S>R | No |
ClinGen Ensembl |
|
|
CA2405363 rs774786641 |
343 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA352826044 rs1409825474 |
343 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1472157050 CA352826003 |
346 | H>P | No |
ClinGen TOPMed |
|
|
rs1254424893 CA352826008 |
346 | H>Y | No |
ClinGen gnomAD |
|
|
rs776117691 CA2405360 |
347 | K>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000483980 rs1553691668 |
348 | S>missing | No |
ClinVar dbSNP |
|
|
CA543050840 rs1210040661 |
348 | S>* | No |
ClinGen gnomAD |
|
|
rs944037406 CA352825939 |
351 | E>* | No |
ClinGen gnomAD |
|
|
rs944037406 CA74541198 |
351 | E>K | No |
ClinGen gnomAD |
|
|
rs769459081 CA2405357 |
352 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1575293753 CA352825924 |
352 | S>A | No |
ClinGen Ensembl |
|
|
CA74541194 rs913881676 |
354 | P>L | No |
ClinGen Ensembl |
|
|
rs1434111632 CA352825861 |
357 | R>C | No |
ClinGen gnomAD |
|
|
CA2405353 rs779044341 |
358 | I>V | No |
ClinGen ExAC |
No associated diseases with Q9Y5P6
4 regional properties for Q9Y5P6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Aminoacyl-tRNA synthetase, class II (G/ P/ S/T) | 227 - 407 | IPR002314 |
| domain | Aminoacyl-tRNA synthetase, class II | 173 - 417 | IPR006195 |
| domain | Serine-tRNA synthetase, type1, N-terminal | 1 - 109 | IPR015866 |
| domain | Serine-tRNA ligase catalytic core domain | 121 - 424 | IPR033729 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.7.13 | Nucleotidyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
| mannose-1-phosphate guanylyltransferase activity | Catalysis of the reaction: alpha-D-mannose 1-phosphate + GTP = diphosphate + GDP-alpha-D-mannose. |
| nucleotidyltransferase activity | Catalysis of the transfer of a nucleotidyl group to a reactant. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| GDP-mannose biosynthetic process | The chemical reactions and pathways resulting in the formation of GDP-mannose, a substance composed of mannose in glycosidic linkage with guanosine diphosphate. |
| protein glycosylation | A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKALILVGGY | GTRLRPLTLS | TPKPLVDFCN | KPILLHQVEA | LAAAGVDHVI | LAVSYMSQVL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EKEMKAQEQR | LGIRISMSHE | EEPLGTAGPL | ALARDLLSET | ADPFFVLNSD | VICDFPFQAM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VQFHRHHGQE | GSILVTKVEE | PSKYGVVVCE | ADTGRIHRFV | EKPQVFVSNK | INAGMYILSP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AVLQRIQLQP | TSIEKEVFPI | MAKEGQLYAM | ELQGFWMDIG | QPKDFLTGMC | LFLQSLRQKQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PERLCSGPGI | VGNVLVDPSA | RIGQNCSIGP | NVSLGPGVVV | EDGVCIRRCT | VLRDARIRSH |
| 310 | 320 | 330 | 340 | 350 | |
| SWLESCIVGW | RCRVGQWVRM | ENVTVLGEDV | IVNDELYLNG | ASVLPHKSIG | ESVPEPRIIM |