P46976
PR
Gene name |
GYG1 (GYG) |
Protein name |
Glycogenin-1 |
Names |
GN-1, GN1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2992 |
EC number |
2.4.1.186: Hexosyltransferases |
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
24 structures for P46976
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3Q4S | X-ray | 198 A | A | 1-262 | PDB |
| 3QVB | X-ray | 226 A | A | 1-262 | PDB |
| 3RMV | X-ray | 182 A | A | 1-262 | PDB |
| 3RMW | X-ray | 193 A | A | 1-262 | PDB |
| 3T7M | X-ray | 180 A | A/B | 1-262 | PDB |
| 3T7N | X-ray | 198 A | A/B | 1-262 | PDB |
| 3T7O | X-ray | 185 A | A/B | 1-262 | PDB |
| 3U2T | X-ray | 205 A | A | 1-262 | PDB |
| 3U2U | X-ray | 145 A | A/B | 1-262 | PDB |
| 3U2V | X-ray | 150 A | A/B | 1-262 | PDB |
| 3U2W | X-ray | 168 A | A/B | 1-262 | PDB |
| 3U2X | X-ray | 177 A | A/B | 1-262 | PDB |
| 6EQJ | X-ray | 218 A | A | 1-262 | PDB |
| 6EQL | X-ray | 238 A | A/B | 1-262 | PDB |
| 7OVX | X-ray | 170 A | Q | 339-350 | PDB |
| 7Q0B | EM | 300 A | E/F/G/H | 1-350 | PDB |
| 7Q0S | EM | 400 A | E/F/G/H | 1-350 | PDB |
| 7Q12 | EM | 370 A | E/F/G/H | 1-350 | PDB |
| 7Q13 | EM | 300 A | E/F/G/H | 1-350 | PDB |
| 7ZBN | EM | 262 A | E/F/G/H | 1-350 | PDB |
| 8CVX | EM | 350 A | E/F/G/H | 1-350 | PDB |
| 8CVY | EM | 360 A | E/G/H | 1-350 | PDB |
| 8CVZ | EM | 352 A | E/F/G/H/I/J | 1-350 | PDB |
| AF-P46976-F1 | Predicted | AlphaFoldDB |
322 variants for P46976
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs200947378 CA354909793 VAR_072706 |
16 | A>P | PGBM2 [UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001245239 rs112622137 CA2658449 RCV001508506 |
23 | G>E | Glycogen storage disease XV [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs146101365 RCV001532010 RCV000652499 CA2658455 |
33 | R>K | Glycogen storage disease XV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2658466 RCV000426412 rs142784073 RCV000910723 |
46 | S>C | Glycogen storage disease XV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA354911172 RCV000690080 rs1559834349 |
52 | E>* | Glycogen storage disease XV Glycogen storage disease xv (gsd15) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001349437 CA354911420 rs1483682431 |
69 | S>C | Glycogen storage disease XV [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs267606858 VAR_063768 CA117880 RCV000006318 |
83 | T>M | Glycogen storage disease XV Glycogen storage disease xv (gsd15) GSD15; loss of autoglucosylation [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000150100 VAR_072707 RCV000413263 RCV001195381 RCV000703555 RCV003147344 COSM3736309 rs143137713 CA175129 |
102 | D>H | Polyglucosan body myopathy type 2 Glycogen storage disease XV skin Glycogen storage disease xv (gsd15) PGBM2 [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000800435 rs140175164 CA2658557 RCV002534637 RCV001091200 |
147 | N>D | Glycogen storage disease XV Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2658559 RCV000652500 rs35054019 RCV000612160 |
151 | H>L | Glycogen storage disease XV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000599598 RCV001090152 RCV001850033 rs727502871 RCV000150102 |
163 | D>missing | Glycogen storage disease XV Polyglucosan body myopathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1429663478 RCV001060726 |
211 | V>missing | Glycogen storage disease XV [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354907975 rs1412348949 RCV000796254 |
221 | N>T | Glycogen storage disease XV [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000150101 rs727502870 CA175130 |
250 | W>* | Polyglucosan body myopathy type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001054147 rs1714533252 |
273 | Y>* | Glycogen storage disease XV [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354908844 rs1211466583 RCV000700712 |
273 | Y>F | Glycogen storage disease XV [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA354909132 RCV000662152 RCV000662151 rs1553733613 |
289 | G>V | Polyglucosan body myopathy type 2 Glycogen storage disease XV [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs75284499 CA2658680 RCV001342452 |
291 | C>F | Glycogen storage disease XV [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1470497667 CA354909164 |
2 | T>I | No |
ClinGen gnomAD |
|
|
CA2658406 rs755451812 |
3 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2658433 rs745345009 |
4 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs370928738 CA2658434 |
5 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370928738 CA354909627 |
5 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746880872 CA2658436 |
6 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA85546037 rs111907916 |
9 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776360129 CA2658439 |
10 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354909712 rs1559995796 |
11 | T>I | No |
ClinGen Ensembl |
|
|
rs761710847 CA2658442 |
12 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927749792 CA85546068 |
13 | D>G | No |
ClinGen Ensembl |
|
|
CA85546060 rs1046264003 |
13 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1198595748 CA354909753 |
14 | A>T | No |
ClinGen gnomAD |
|
|
rs1393722374 CA354909759 |
14 | A>V | No |
ClinGen gnomAD |
|
|
CA354909766 rs1350967597 |
15 | Y>H | No |
ClinGen gnomAD |
|
|
rs200947378 CA2658444 |
16 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766504664 CA2658445 |
17 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85546081 rs970066155 |
18 | G>V | No |
ClinGen TOPMed |
|
|
rs148954947 CA85546083 |
19 | A>S | No |
ClinGen ESP gnomAD |
|
|
rs1362880220 CA354909859 |
19 | A>V | No |
ClinGen gnomAD |
|
|
CA354909871 rs1386488636 |
20 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1372925900 CA354909880 |
21 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2658448 rs148083274 |
23 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1217273557 CA354909922 |
24 | S>* | No |
ClinGen gnomAD |
|
|
CA2658451 rs778412114 |
25 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1064795548 RCV000483737 |
27 | K>missing | No |
ClinVar dbSNP |
|
|
rs938753170 CA85546105 |
28 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA85546129 rs1019747164 |
30 | R>G | No |
ClinGen Ensembl |
|
|
CA85546134 rs901308487 |
30 | R>K | No |
ClinGen Ensembl |
|
|
CA2658453 rs758050060 |
31 | T>A | No |
ClinGen ExAC TOPMed |
|
|
rs1455877117 CA354910081 |
31 | T>I | No |
ClinGen gnomAD |
|
|
CA2658454 rs779480354 |
32 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA354910100 rs1436001763 |
33 | R>W | No |
ClinGen TOPMed |
|
|
rs1328299947 CA354910123 |
34 | R>K | No |
ClinGen TOPMed |
|
|
CA2658456 rs768552016 |
36 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457543582 CA354910183 |
37 | V>A | No |
ClinGen gnomAD |
|
|
CA85546157 rs913039791 |
37 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA85546159 rs200530870 |
39 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2658459 rs200530870 |
39 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354910287 rs1179353544 |
41 | P>L | No |
ClinGen gnomAD |
|
|
rs763182023 CA2658461 |
42 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA354910289 rs1330476252 |
42 | Q>K | No |
ClinGen gnomAD |
|
|
CA2658460 rs772891547 |
42 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2658464 rs759727215 |
44 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs527407055 CA2658463 |
44 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2658465 rs768112881 |
45 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2658467 rs760940197 |
47 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA354910434 rs1214670174 |
47 | M>V | No |
ClinGen gnomAD |
|
|
rs1382411379 CA354911115 |
49 | K>E | No |
ClinGen TOPMed |
|
|
rs150769345 CA2658487 |
50 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354911224 rs1381880009 |
55 | F>C | No |
ClinGen TOPMed |
|
|
rs1477619940 CA354911268 |
57 | E>D | No |
ClinGen TOPMed |
|
|
rs200108067 CA85547312 |
59 | I>M | No |
ClinGen Ensembl |
|
|
CA2658490 rs535548906 |
59 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85547315 rs1006430355 |
61 | V>A | No |
ClinGen Ensembl |
|
|
CA2658491 rs766998813 |
63 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA85547319 rs547598009 |
63 | V>I | No |
ClinGen Ensembl |
|
|
CA2658492 rs752174883 |
66 | S>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1039708 rs1274680720 CA354911406 |
68 | D>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA354911454 rs1398931853 |
74 | L>V | No |
ClinGen gnomAD |
|
|
CA354911464 rs1356322986 |
75 | M>L | No |
ClinGen TOPMed |
|
|
rs749066644 CA2658495 |
76 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1360251199 CA354911490 |
78 | P>S | No |
ClinGen gnomAD |
|
|
rs1274231525 CA354911496 |
79 | E>K | No |
ClinGen gnomAD |
|
|
rs267606858 RCV000519762 CA354911560 |
83 | T>K | Glycogen storage disease xv (gsd15) [Ensembl] | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2658497 rs267606858 |
83 | T>R | Glycogen storage disease xv (gsd15) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA354911558 rs1219171227 |
83 | T>S | No |
ClinGen TOPMed |
|
|
rs775590691 CA2658499 |
84 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1240549289 CA354911592 |
85 | T>I | No |
ClinGen gnomAD |
|
|
CA85547363 rs988422519 |
86 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA85547360 rs988422519 |
86 | K>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 88 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354911639 rs1576537935 |
88 | H>Q | No |
ClinGen Ensembl |
|
|
CA354911667 rs1324148807 |
90 | W>C | No |
ClinGen TOPMed |
|
|
rs1477905562 CA354911666 |
90 | W>L | No |
ClinGen gnomAD |
|
|
rs769174098 CA2658501 |
90 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA2658502 rs143959979 |
91 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2658503 rs143959979 |
91 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354911677 rs143959979 |
91 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354911687 rs1192076438 |
92 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA354911706 rs1375478837 |
94 | Q>L | No |
ClinGen gnomAD |
|
|
rs139797816 CA2658505 |
95 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354911726 rs1447841067 COSM1039709 |
96 | S>* | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1559834465 CA354911730 |
97 | K>E | No |
ClinGen Ensembl |
|
|
rs1168059538 CA354911740 |
97 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA354911748 rs759143303 |
98 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA2658506 rs759143303 |
98 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs767111601 CA2658507 |
100 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 100 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431088734 CA354911761 |
100 | F>V | No |
ClinGen gnomAD |
|
|
CA354911780 rs1232697062 |
101 | M>I | No |
ClinGen gnomAD |
|
|
rs1194658364 CA354911785 |
102 | D>A | No |
ClinGen TOPMed |
|
|
rs1204596535 CA354911818 |
105 | T>I | No |
ClinGen gnomAD |
|
|
CA2658510 rs753889873 |
106 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs758175737 CA2658536 |
107 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 108 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1712817364 RCV001172156 |
110 | N>missing | No |
ClinVar dbSNP |
|
|
rs751667472 CA2658538 |
110 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs200687148 CA2658539 |
111 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA85493725 rs1020360836 |
112 | D>G | No |
ClinGen TOPMed |
|
|
CA85493734 rs968503138 |
113 | D>H | No |
ClinGen gnomAD |
|
|
rs748262447 CA2658541 |
114 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs748262447 CA354903128 |
114 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1576538362 TCGA novel CA354903139 |
115 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
rs978877121 CA2658544 |
116 | D>E | No |
ClinGen TOPMed |
|
|
CA354903153 rs1273511214 |
117 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1453047975 CA354903151 |
117 | R>T | No |
ClinGen TOPMed |
|
| rs753901064 | 118 | E>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2658546 rs749654439 |
119 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1248145419 CA354903187 |
122 | A>G | No |
ClinGen TOPMed |
|
|
rs1248145419 CA354903188 |
122 | A>V | No |
ClinGen TOPMed |
|
|
rs955833273 CA85493810 |
123 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2658547 rs771263768 |
126 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs987032648 CA85493836 |
127 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774778687 CA2658548 |
128 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA354903230 rs1346124932 |
129 | P>L | No |
ClinGen TOPMed |
|
|
CA2658549 rs760183284 |
130 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1369369954 CA354903244 |
131 | C>Y | No |
ClinGen gnomAD |
|
|
rs373007689 CA2658550 |
132 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs566956486 CA2658552 |
135 | G>R | Glycogen storage disease xv (gsd15) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA354903274 rs1431012331 |
136 | V>F | No |
ClinGen gnomAD |
|
|
rs765243532 CA2658553 |
138 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765243532 CA354903287 |
138 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756594918 CA85493916 |
140 | Q>L | No |
ClinGen Ensembl |
|
|
CA354903317 rs1576538459 |
142 | S>L | No |
ClinGen Ensembl |
|
|
rs528341533 CA2658556 |
146 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354903343 rs1252919588 |
146 | Y>C | No |
ClinGen gnomAD |
|
|
rs1224924494 CA354903340 |
146 | Y>H | No |
ClinGen gnomAD |
|
|
rs1277490716 CA354903349 |
147 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354903353 rs1486386115 |
148 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs751394282 CA2658558 |
150 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs35054019 CA2658560 |
151 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA85493936 rs942145920 |
153 | A>P | No |
ClinGen gnomAD |
|
|
rs868642694 CA85493958 |
154 | S>P | No |
ClinGen Ensembl |
|
|
CA354903411 rs1191481479 |
157 | G>R | No |
ClinGen gnomAD |
|
|
rs974043471 CA85493960 |
158 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA354903439 rs1450565068 |
160 | D>E | No |
ClinGen gnomAD |
|
|
CA85493961 rs920037396 |
160 | D>G | No |
ClinGen TOPMed |
|
|
rs1363319169 CA354904838 |
161 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1389043812 CA354904944 |
164 | Q>R | No |
ClinGen gnomAD |
|
|
CA2658573 rs772792452 |
165 | G>D | No |
ClinGen ExAC |
|
|
CA2658574 rs762751567 |
166 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 171 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 172 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240678044 CA354905103 |
173 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 174 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286337880 CA354905144 |
175 | A>E | No |
ClinGen Ensembl |
|
|
rs773989137 CA2658578 |
176 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2658580 rs151295448 |
176 | T>I | No |
ClinGen ESP ExAC TOPMed |
|
|
rs151295448 CA354905151 |
176 | T>K | No |
ClinGen ESP ExAC TOPMed |
|
|
CA2658581 rs767717284 |
177 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752987232 CA2658583 |
178 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140570434 CA2658584 |
178 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752987232 CA2658582 |
178 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370532777 CA2658585 |
180 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150420606 CA2658586 |
182 | H>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2658587 rs779512305 |
182 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs150420606 CA85504469 |
182 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746196371 CA2658588 |
184 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354905280 rs1282702860 |
186 | I>N | No |
ClinGen TOPMed |
|
|
rs1203510184 CA354905311 |
188 | N>K | No |
ClinGen TOPMed |
|
|
rs747745774 CA2658591 |
189 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA2658590 rs780571412 |
189 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2658592 rs375335406 |
190 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354905370 rs1371154063 |
194 | I>M | No |
ClinGen gnomAD |
|
|
rs1297560144 CA354905361 |
194 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1234410633 CA354905392 |
196 | S>F | No |
ClinGen gnomAD |
|
|
rs748873090 CA2658594 |
197 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA354905400 rs1216767993 |
197 | Y>C | No |
ClinGen TOPMed |
|
|
rs200275239 CA2658596 |
199 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770754641 CA2658595 |
199 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85504539 rs770754641 |
199 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354905432 rs900217907 |
200 | A>S | No |
ClinGen gnomAD |
|
|
CA85504567 rs900217907 |
200 | A>T | No |
ClinGen gnomAD |
|
|
CA2658598 rs762433858 |
200 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2658599 rs142318183 |
201 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1179024050 CA354905463 |
203 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1179024050 CA354905464 |
203 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2658622 rs567161281 |
204 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2658623 rs750552953 |
205 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2658624 rs763516254 |
205 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2658625 rs767034971 |
207 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA354907796 rs1314220134 |
209 | K>E | No |
ClinGen gnomAD |
|
|
CA2658626 rs751953419 |
209 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs1004038883 CA85517801 |
212 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 213 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354907880 rs1298961804 |
215 | G>E | No |
ClinGen gnomAD |
|
|
rs1231194468 CA354907877 |
215 | G>R | No |
ClinGen gnomAD |
|
|
rs777291159 CA2658628 |
216 | R>* | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1035133767 CA85517802 |
216 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2658629 rs753467119 |
217 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs756870155 CA2658630 |
219 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2658631 rs780894437 |
220 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA354907977 rs1412348949 |
221 | N>S | No |
ClinGen gnomAD |
|
|
CA354908032 rs745411888 |
224 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85517861 rs1009324457 |
224 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs532571990 CA2658632 |
224 | Y>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771963932 CA2658634 |
225 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416008207 CA354908035 |
225 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs780014472 CA2658635 |
227 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs201672568 CA2658637 |
228 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs749552019 CA85517902 |
229 | K>E | No |
ClinGen gnomAD |
|
|
CA354908133 rs1407947928 |
231 | V>A | No |
ClinGen TOPMed |
|
|
rs768562883 CA2658640 |
234 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs372805607 CA2658639 |
234 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1346647822 CA354908215 |
235 | A>V | No |
ClinGen gnomAD |
|
|
rs762046425 CA2658642 |
236 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs920742617 CA85517956 |
236 | H>R | No |
ClinGen Ensembl |
|
|
rs759134229 CA354908308 |
239 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs759134229 CA85517960 |
239 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs867381085 CA85517973 |
241 | T>N | No |
ClinGen Ensembl |
|
|
rs1460713726 CA354908366 |
242 | H>L | No |
ClinGen Ensembl |
|
|
rs1276618940 CA354908368 |
242 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2658644 rs773397811 |
245 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1209119406 CA354908433 |
247 | I>F | No |
ClinGen gnomAD |
|
|
CA2658646 rs766983728 |
249 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1475763168 CA354908477 |
249 | W>C | No |
ClinGen TOPMed |
|
|
rs1420444890 CA354908531 |
251 | N>S | No |
ClinGen TOPMed |
|
|
rs552267180 CA2658647 |
252 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs569202072 CA2658649 |
253 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2658650 rs753022805 |
254 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2658652 rs142869401 |
256 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2658653 rs79395779 |
257 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79395779 CA85518066 |
257 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354908651 rs1287376732 |
258 | L>F | No |
ClinGen TOPMed |
|
|
CA85518085 rs79691300 |
258 | L>I | No |
ClinGen Ensembl |
|
|
CA354908655 rs1227350414 |
259 | P>S | No |
ClinGen TOPMed |
|
|
rs1576555336 CA354908686 |
261 | L>P | No |
ClinGen Ensembl |
|
|
rs1239775445 CA354908713 |
263 | Q>* | No |
ClinGen Ensembl |
|
|
rs746892694 CA2658655 |
263 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779961462 CA2658656 |
264 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2658657 rs143620841 |
267 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1198924627 CA354908813 |
270 | T>I | No |
ClinGen gnomAD |
|
|
CA354908818 rs1272239682 |
271 | C>Y | No |
ClinGen gnomAD |
|
|
CA354908835 rs1226277771 |
272 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1332456413 CA354908838 |
273 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA354908839 rs1332456413 |
273 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs866810122 CA85518133 |
276 | V>A | No |
ClinGen TOPMed |
|
|
rs760872938 RCV001091201 |
278 | S>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 280 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1435727162 CA354909072 |
280 | L>F | No |
ClinGen TOPMed |
|
|
CA2658678 rs768834390 |
282 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1576556766 CA354909084 |
282 | Y>C | No |
ClinGen Ensembl |
|
|
rs1167301212 CA354909127 |
289 | G>S | No |
ClinGen gnomAD |
|
|
CA354909162 rs1312422317 |
292 | R>* | No |
ClinGen gnomAD |
|
|
rs781042039 CA2658681 COSM445773 |
292 | R>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs975170441 CA85520045 |
293 | K>R | No |
ClinGen Ensembl |
|
|
CA2658703 rs748775464 |
294 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs202085215 CA2658705 |
295 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354909200 rs202085215 |
295 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2658707 rs539132712 |
299 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757519500 CA2658708 |
299 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM325469 CA354909246 rs1482712821 |
300 | I>M | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2658709 rs148024634 |
300 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA2658710 rs745944279 |
302 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs772107921 CA2658711 |
304 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA354909284 rs1193590694 |
305 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA85520478 rs1005317480 |
306 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA354909300 rs1431227071 |
307 | E>G | No |
ClinGen gnomAD |
|
|
rs1184493368 CA354909307 |
308 | I>F | No |
ClinGen TOPMed |
|
|
rs1197819879 CA354909312 |
308 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA85520484 rs1014772125 |
309 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1263803933 CA354909316 |
309 | P>S | No |
ClinGen TOPMed |
|
|
CA354909324 rs1363436975 |
310 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1389114020 CA354909334 |
311 | M>T | No |
ClinGen gnomAD |
|
|
CA2658714 rs747456955 |
311 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769173594 CA2658715 |
312 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2658717 rs776949635 |
314 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305741136 CA354909384 |
317 | S>Y | No |
ClinGen gnomAD |
|
|
rs1271327847 CA354909393 |
318 | S>* | No |
ClinGen TOPMed |
|
|
CA2658719 rs1271327847 |
318 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA354909400 rs1280615580 |
319 | E>A | No |
ClinGen TOPMed |
|
|
CA2658723 rs150523225 |
320 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA354909409 rs1270370151 |
320 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA354909406 rs150523225 |
320 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2658722 rs150523225 |
320 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2658725 rs566702762 |
321 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566702762 CA2658726 |
321 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2658724 rs138596591 |
321 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1264170227 CA354909427 |
322 | K>N | No |
ClinGen gnomAD |
|
|
CA175126 rs727502869 |
324 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA354909440 rs567555713 |
324 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2658727 rs567555713 |
324 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757173668 CA2658728 |
325 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2658729 rs779188409 |
326 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA354909468 rs1412375574 |
328 | G>S | No |
ClinGen gnomAD |
|
|
CA2658731 rs758659562 |
330 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2658732 rs576193137 |
332 | Y>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA85520694 rs773835814 |
335 | A>G | No |
ClinGen Ensembl |
|
|
rs542123045 CA2658734 |
337 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA85520743 rs759252715 |
338 | F>C | No |
ClinGen gnomAD |
|
|
rs1182452266 CA354909740 |
342 | K>E | No |
ClinGen TOPMed |
|
|
CA2658736 rs748509747 |
343 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769989474 CA2658737 |
344 | K>N | No |
ClinGen ExAC |
|
|
CA354909810 rs1231381999 |
344 | K>R | No |
ClinGen TOPMed |
|
|
CA2658738 rs141679018 |
346 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759064665 CA2658739 |
347 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs533834445 CA2658740 |
347 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA547365620 rs1323970473 |
348 | Y>* | No |
ClinGen gnomAD |
|
|
rs1576557263 CA354909936 |
348 | Y>S | No |
ClinGen Ensembl |
|
|
rs764107000 CA2658743 |
349 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs764107000 CA354909942 |
349 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1273964671 CA354909985 |
351 | Q>W | No |
ClinGen TOPMed gnomAD |
2 associated diseases with P46976
[MIM: 613507]: Glycogen storage disease 15 (GSD15)
A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. {ECO:0000269|PubMed:20357282, ECO:0000269|PubMed:22160680}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 616199]: Polyglucosan body myopathy 2 (PGBM2)
A glycogen storage disease characterized by polyglucosan accumulation in muscle, and skeletal myopathy without cardiac involvement. Most patients manifest slowly progressive, hip girdle, shoulder girdle, and/or hand and leg muscle weakness. Polyglucosan contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase. {ECO:0000269|PubMed:25272951}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. {ECO:0000269|PubMed:20357282, ECO:0000269|PubMed:22160680}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A glycogen storage disease characterized by polyglucosan accumulation in muscle, and skeletal myopathy without cardiac involvement. Most patients manifest slowly progressive, hip girdle, shoulder girdle, and/or hand and leg muscle weakness. Polyglucosan contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase. {ECO:0000269|PubMed:25272951}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for P46976
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Aminoacyl-tRNA synthetase, class II (G/ P/ S/T) | 219 - 398 | IPR002314 |
| domain | Aminoacyl-tRNA synthetase, class II | 173 - 408 | IPR006195 |
| domain | Serine-tRNA synthetase, type1, N-terminal | 1 - 108 | IPR015866 |
| domain | Serine-tRNA ligase catalytic core domain | 121 - 415 | IPR033729 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.186 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
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. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| ficolin-1-rich granule lumen | Any membrane-enclosed lumen that is part of a ficolin-1-rich granule. |
| lysosomal lumen | The volume enclosed within the lysosomal membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| secretory granule lumen | The volume enclosed by the membrane of a secretory granule. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| glycogenin glucosyltransferase activity | Catalysis of the reaction: UDP-glucose + glycogenin = UDP + glucosylglycogenin. |
| glycosyltransferase activity | Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor). |
| manganese ion binding | Binding to a manganese ion (Mn). |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity | Catalysis of the reaction: UDP-alpha-D-glucose + a glucosyl-glycogenin = (1,4-alpha-D-glucosyl)n-glucosyl glucogenin + UDP + H+. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| glycogen biosynthetic process | The chemical reactions and pathways resulting in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P36143 | GLG1 | Glycogenin-1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P47011 | GLG2 | Glycogenin-2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q9FZ37 | GUX4 | Putative UDP-glucuronate:xylan alpha-glucuronosyltransferase 4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8W4A7 | GUX3 | Putative UDP-glucuronate:xylan alpha-glucuronosyltransferase 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8H1S1 | GOLS6 | Galactinol synthase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4JMI5 | PGSIP7 | Putative glucuronosyltransferase PGSIP7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8GWW4 | GUX2 | UDP-glucuronate:xylan alpha-glucuronosyltransferase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTDQAFVTLT | TNDAYAKGAL | VLGSSLKQHR | TTRRLVVLAT | PQVSDSMRKV | LETVFDEVIM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VDVLDSGDSA | HLTLMKRPEL | GVTLTKLHCW | SLTQYSKCVF | MDADTLVLAN | IDDLFDREEL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SAAPDPGWPD | CFNSGVFVYQ | PSVETYNQLL | HLASEQGSFD | GGDQGILNTF | FSSWATTDIR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KHLPFIYNLS | SISIYSYLPA | FKVFGASAKV | VHFLGRVKPW | NYTYDPKTKS | VKSEAHDPNM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| THPEFLILWW | NIFTTNVLPL | LQQFGLVKDT | CSYVNVLSDL | VYTLAFSCGF | CRKEDVSGAI |
| 310 | 320 | 330 | 340 | ||
| SHLSLGEIPA | MAQPFVSSEE | RKERWEQGQA | DYMGADSFDN | IKRKLDTYLQ |