Q9NTG7
SS
Gene name |
SIRT3 (SIR2L3) |
Protein name |
NAD-dependent protein deacetylase sirtuin-3, mitochondrial |
Names |
hSIRT3 , EC 2.3.1.286 , Regulatory protein SIR2 homolog 3 , SIR2-like protein 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23410 |
EC number |
2.3.1.286: Transferring groups other than amino-acyl groups |
Protein Class |
|
Descriptions
Sirtuin 2 (SIRT2) is a NAD+ dependent deacetylase that has been associated with neurodegeneration and cancer. The C-terminal region (CT) of SIRT2 functions as an autoinhibitory region that regulates the deacetylation activity of SIRT2. Phosphorylation at S331 of SIRT2 isoform 2 causes large conformational changes in the CT that enhance the autoinhibitory activity of the CT region. This serine residue is located within the naturally disordered C-terminal region (CT, residues 320-352 in isoform 2).
Autoinhibitory domains (AIDs)
Target domain |
90-361 (Catalytic core domain) |
Relief mechanism |
Others |
Assay |
|
Accessory elements
No accessory elements
References
- Li J et al. (2015) "Insight into the Mechanism of Intramolecular Inhibition of the Catalytic Activity of Sirtuin 2 (SIRT2)", PloS one, 10, e0139095
- Xu Y et al. (2014) "Oxidative stress activates SIRT2 to deacetylate and stimulate phosphoglycerate mutase", Cancer research, 74, 3630-42
- Finnin MS et al. (2001) "Structure of the histone deacetylase SIRT2", Nature structural biology, 8, 621-5
Autoinhibited structure
Activated structure
41 structures for Q9NTG7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3GLR | X-ray | 180 A | A | 118-399 | PDB |
| 3GLS | X-ray | 270 A | A/B/C/D/E/F | 118-399 | PDB |
| 3GLT | X-ray | 210 A | A | 118-399 | PDB |
| 3GLU | X-ray | 250 A | A | 118-399 | PDB |
| 4BN4 | X-ray | 130 A | A | 116-399 | PDB |
| 4BN5 | X-ray | 325 A | A/B/C/D/E/F/G/H/I/J/K/L | 119-399 | PDB |
| 4BV3 | X-ray | 200 A | A | 116-399 | PDB |
| 4BVB | X-ray | 200 A | A | 116-399 | PDB |
| 4BVE | X-ray | 205 A | A | 116-399 | PDB |
| 4BVF | X-ray | 270 A | A | 116-399 | PDB |
| 4BVG | X-ray | 250 A | A | 116-399 | PDB |
| 4BVH | X-ray | 190 A | A/B/C | 116-399 | PDB |
| 4C78 | X-ray | 200 A | A | 116-399 | PDB |
| 4C7B | X-ray | 210 A | A | 117-399 | PDB |
| 4FVT | X-ray | 247 A | A | 122-395 | PDB |
| 4FZ3 | X-ray | 210 A | A | 118-399 | PDB |
| 4HD8 | X-ray | 230 A | A | 116-399 | PDB |
| 4JSR | X-ray | 170 A | A | 118-399 | PDB |
| 4JT8 | X-ray | 226 A | A | 118-399 | PDB |
| 4JT9 | X-ray | 224 A | A | 118-399 | PDB |
| 4O8Z | X-ray | 200 A | A | 116-399 | PDB |
| 5BWN | X-ray | 194 A | A | 118-399 | PDB |
| 5BWO | X-ray | 238 A | A | 118-399 | PDB |
| 5D7N | X-ray | 183 A | A/B/C/D/E/F | 118-395 | PDB |
| 5H4D | X-ray | 321 A | A/H | 121-391 | PDB |
| 5Y4H | X-ray | 260 A | A | 118-399 | PDB |
| 5YTK | X-ray | 270 A | A/B/C/D/E/F | 121-394 | PDB |
| 5Z93 | X-ray | 195 A | A | 117-399 | PDB |
| 5Z94 | X-ray | 190 A | A/B | 117-399 | PDB |
| 5ZGC | X-ray | 290 A | A/B/C/D/E/F | 121-394 | PDB |
| 6ISO | X-ray | 295 A | A/B/E/G/I/K | 121-394 | PDB |
| 8ANC | X-ray | 111 A | P | 98-108 | PDB |
| 8BBK | X-ray | 327 A | A/B/C/D/E/F | 1-399 | PDB |
| 8CCW | X-ray | 165 A | A | 118-399 | PDB |
| 8CCZ | X-ray | 195 A | A/B | 118-399 | PDB |
| 8HLW | X-ray | 250 A | A | 119-399 | PDB |
| 8HLY | X-ray | 200 A | A | 119-399 | PDB |
| 8HN9 | X-ray | 370 A | A/B | 122-395 | PDB |
| 8V15 | X-ray | 240 A | A/C | 118-399 | PDB |
| 8V2N | X-ray | 174 A | A | 118-399 | PDB |
| AF-Q9NTG7-F1 | Predicted | AlphaFoldDB |
524 variants for Q9NTG7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1409376174 | 2 | A>E | No |
TOPMed gnomAD |
|
| rs1327127415 | 2 | A>S | No |
TOPMed gnomAD |
|
| rs1409376174 | 2 | A>V | No |
TOPMed gnomAD |
|
| rs991887343 | 3 | F>L | No |
1000Genomes TOPMed gnomAD |
|
| rs1165624059 | 3 | F>L | No |
TOPMed gnomAD |
|
| rs1165624059 | 3 | F>V | No |
TOPMed gnomAD |
|
| rs1859111702 | 4 | W>R | No | gnomAD | |
| rs1413765501 | 5 | G>C | No |
TOPMed gnomAD |
|
| rs1413765501 | 5 | G>R | No |
TOPMed gnomAD |
|
| rs1413765501 | 5 | G>S | No |
TOPMed gnomAD |
|
| rs1159625887 | 5 | G>V | No |
TOPMed gnomAD |
|
| rs771744672 | 6 | W>* | No |
ExAC gnomAD |
|
| rs771744672 | 6 | W>C | No |
ExAC gnomAD |
|
| rs1362378035 | 7 | R>C | No |
TOPMed gnomAD |
|
| rs1179244147 | 7 | R>H | No | gnomAD | |
| rs1179244147 | 7 | R>L | No | gnomAD | |
| rs1269136498 | 8 | A>P | No |
TOPMed gnomAD |
|
| rs1269136498 | 8 | A>S | No |
TOPMed gnomAD |
|
| rs2974901 | 8 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1349465628 | 9 | A>G | No |
TOPMed gnomAD |
|
| rs1162805039 | 9 | A>P | No | TOPMed | |
| rs1162805039 | 9 | A>S | No | TOPMed | |
| rs1349465628 | 9 | A>V | No |
TOPMed gnomAD |
|
| rs780517553 | 10 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1352587034 | 10 | A>V | No | gnomAD | |
| rs1277486848 | 11 | A>S | No | gnomAD | |
| rs1277486848 | 11 | A>T | No | gnomAD | |
| rs1859103743 | 11 | A>V | No | TOPMed | |
| rs1346454316 | 12 | L>F | No |
TOPMed gnomAD |
|
| rs1305165007 | 12 | L>P | No | gnomAD | |
| rs750513427 | 13 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs750513427 | 13 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1319585083 | 14 | L>P | No | gnomAD | |
|
rs1406415646 COSM1225795 |
15 | W>C | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1859099590 | 15 | W>G | No | gnomAD | |
| rs757433795 | 16 | G>C | No | ExAC | |
| rs1564817170 | 16 | G>D | No | Ensembl | |
| rs201144583 | 17 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs765030215 | 17 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1480953399 | 18 | V>L | No |
TOPMed gnomAD |
|
| rs1020661211 | 20 | E>* | No |
TOPMed gnomAD |
|
| rs753865318 | 20 | E>G | No |
ExAC gnomAD |
|
| rs1020661211 | 20 | E>K | No |
TOPMed gnomAD |
|
| rs1216413018 | 21 | R>G | No |
TOPMed gnomAD |
|
| rs1859092630 | 21 | R>P | No |
TOPMed gnomAD |
|
| rs1216413018 | 21 | R>W | No |
TOPMed gnomAD |
|
| rs1590236251 | 22 | V>G | No | Ensembl | |
| rs1323950591 | 24 | A>V | No | gnomAD | |
| rs761490192 | 25 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs1221864223 | 25 | G>R | No |
TOPMed gnomAD |
|
| rs761490192 | 25 | G>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 26 | G>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1432957519 | 26 | G>R | No | gnomAD | |
| rs1859086996 | 26 | G>V | No |
TOPMed gnomAD |
|
| rs1859085616 | 28 | V>G | No | TOPMed | |
| rs769057279 | 28 | V>L | No |
ExAC gnomAD |
|
| rs780605813 | 32 | Q>* | No |
ExAC gnomAD |
|
| TCGA novel | 32 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1178159777 | 32 | Q>R | No | gnomAD | |
| rs1476096524 | 35 | G>D | No | gnomAD | |
| rs781291605 | 37 | R>G | No |
ExAC gnomAD |
|
| rs1264712159 | 37 | R>P | No |
TOPMed gnomAD |
|
| rs1264712159 | 37 | R>Q | No |
TOPMed gnomAD |
|
| rs901591436 | 38 | L>Q | No |
TOPMed gnomAD |
|
| rs963825344 | 39 | V>G | No | gnomAD | |
| rs1590235780 | 39 | V>L | No |
TOPMed gnomAD |
|
| rs199833773 | 40 | L>F | No |
TOPMed gnomAD |
|
| rs202047454 | 41 | G>A | No |
TOPMed gnomAD |
|
| rs1385438610 | 42 | G>D | No | gnomAD | |
| rs747301698 | 43 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1859073602 | 43 | R>K | No | TOPMed | |
| rs1180573969 | 44 | D>N | No | gnomAD | |
| rs1358271194 | 45 | D>G | No | gnomAD | |
| rs550597420 | 45 | D>N | No |
1000Genomes ExAC gnomAD |
|
| rs550597420 | 45 | D>Y | No |
1000Genomes ExAC gnomAD |
|
| rs200731329 | 46 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs866694544 | 48 | A>E | No | gnomAD | |
| rs943010097 | 48 | A>T | No |
TOPMed gnomAD |
|
| rs866694544 | 48 | A>V | No | gnomAD | |
| rs1590235385 | 49 | G>A | No | TOPMed | |
| rs1590235385 | 49 | G>V | No | TOPMed | |
| rs1859065495 | 50 | L>P | No | TOPMed | |
| rs1445098247 | 51 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1590235277 | 52 | G>D | No | 1000Genomes | |
| rs1244893461 | 52 | G>S | No | gnomAD | |
| rs889056482 | 53 | S>R | No | TOPMed | |
| rs1859062331 | 54 | H>L | No | TOPMed | |
| rs530669484 | 55 | G>E | No |
1000Genomes TOPMed gnomAD |
|
| rs1179945395 | 55 | G>R | No |
TOPMed gnomAD |
|
| rs530669484 | 55 | G>V | No |
1000Genomes TOPMed gnomAD |
|
| rs1233695062 | 56 | A>S | No | gnomAD | |
| rs1233695062 | 56 | A>T | No | gnomAD | |
| rs1269676088 | 56 | A>V | No |
TOPMed gnomAD |
|
| rs1326672519 | 57 | R>G | No |
TOPMed gnomAD |
|
| rs1340153501 | 58 | G>D | No |
TOPMed gnomAD |
|
| rs1340153501 | 58 | G>V | No |
TOPMed gnomAD |
|
| rs1859057250 | 59 | E>K | No | TOPMed | |
| rs749937002 | 60 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs749937002 | 60 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs199629592 | 61 | L>M | No | gnomAD | |
| rs201665713 | 61 | L>W | No |
TOPMed gnomAD |
|
| rs1256878479 | 61 | L>W | No | gnomAD | |
| rs1164182613 | 62 | D>A | No |
TOPMed gnomAD |
|
| rs1164182613 | 62 | D>G | No |
TOPMed gnomAD |
|
| rs1416470354 | 62 | D>H | No | gnomAD | |
| rs371539456 | 63 | P>L | No | gnomAD | |
| rs1859049861 | 65 | R>C | No | TOPMed | |
| rs1859049861 | 65 | R>G | No | TOPMed | |
| rs1374461500 | 65 | R>H | No |
TOPMed gnomAD |
|
| rs202242338 | 66 | P>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1368171849 | 66 | P>L | No |
TOPMed gnomAD |
|
| rs1368171849 | 66 | P>R | No |
TOPMed gnomAD |
|
| rs971883909 | 67 | L>M | No |
1000Genomes TOPMed gnomAD |
|
| rs763733987 | 68 | Q>* | No |
ExAC gnomAD |
|
| rs1859044579 | 68 | Q>H | No | gnomAD | |
| rs1859045073 | 68 | Q>R | No | gnomAD | |
| rs763367247 | 69 | R>S | No |
ExAC gnomAD |
|
| rs1423046045 | 70 | P>L | No |
TOPMed gnomAD |
|
| rs1423046045 | 70 | P>R | No |
TOPMed gnomAD |
|
| rs775763981 | 71 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs775763981 | 71 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs199765649 | 72 | R>I | No | gnomAD | |
| rs770314797 | 73 | P>L | No |
ExAC gnomAD |
|
| rs1590234381 | 73 | P>S | No | TOPMed | |
| rs776978443 | 74 | E>A | No |
ExAC gnomAD |
|
| rs746336444 | 74 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs746336444 | 74 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs771078215 | 75 | V>M | No |
ExAC gnomAD |
|
| rs1859036840 | 76 | P>L | No | TOPMed | |
| rs1859037290 | 76 | P>S | No | gnomAD | |
|
rs143632880 RCV000880116 |
79 | F>L | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs758638762 | 79 | F>Y | No |
ExAC gnomAD |
|
| rs199548975 | 80 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
|
VAR_051977 rs28365927 |
80 | R>W | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs201270739 | 81 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs1405061216 | 83 | P>L | No |
TOPMed gnomAD |
|
| rs1405061216 | 83 | P>Q | No |
TOPMed gnomAD |
|
| rs756032062 | 84 | R>K | No |
ExAC gnomAD |
|
| rs1291727215 | 85 | A>V | No |
TOPMed gnomAD |
|
| rs1457285289 | 87 | A>G | No | gnomAD | |
| rs1859030868 | 87 | A>T | No |
TOPMed gnomAD |
|
| rs1457285289 | 87 | A>V | No | gnomAD | |
| rs767326385 | 88 | P>H | No |
ExAC gnomAD |
|
| rs767326385 | 88 | P>L | No |
ExAC gnomAD |
|
| rs145855642 | 88 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1411558954 | 89 | S>C | No | gnomAD | |
| rs1411558954 | 89 | S>G | No | gnomAD | |
| rs763739958 | 89 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs762551016 | 89 | S>R | No |
ExAC gnomAD |
|
| rs763739958 | 89 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs200341664 | 90 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1209778060 | 91 | F>S | No |
TOPMed gnomAD |
|
| rs1590233762 | 92 | F>L | No | Ensembl | |
| rs1859024213 | 93 | S>A | No | TOPMed | |
| rs1859023729 | 93 | S>L | No |
TOPMed gnomAD |
|
| rs980781866 | 95 | I>T | No | TOPMed | |
| TCGA novel | 96 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs201765776 | 97 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs766916958 | 97 | G>S | No |
ExAC gnomAD |
|
| rs201765776 | 97 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs773451338 | 99 | R>G | No |
ExAC gnomAD |
|
| rs1858411370 | 100 | R>K | No | TOPMed | |
| rs1858411701 | 100 | R>W | No | TOPMed | |
| rs2133941588 | 101 | S>P | No | Ensembl | |
| rs772331651 | 101 | S>Y | No |
ExAC gnomAD |
|
| rs1397553952 | 102 | I>M | No | gnomAD | |
| rs761953280 | 102 | I>V | No |
ExAC gnomAD |
|
| rs774781910 | 103 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs774781910 | 103 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs774781910 | 103 | S>Y | No |
ExAC TOPMed gnomAD |
|
| rs1019260369 | 104 | F>S | No | TOPMed | |
| rs1858409259 | 105 | S>P | No | Ensembl | |
| rs768749356 | 107 | G>V | No |
ExAC gnomAD |
|
|
COSM1353249 rs1858408266 |
108 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1374805412 | 110 | S>G | No |
TOPMed gnomAD |
|
| rs745690704 | 113 | G>A | No | ExAC | |
| rs745690704 | 113 | G>E | No | ExAC | |
| rs200609463 | 114 | S>G | No | gnomAD | |
| rs780808865 | 115 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs1858405364 | 117 | S>G | No | Ensembl | |
| rs201701216 | 117 | S>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1858404607 | 118 | S>N | No | Ensembl | |
| rs1253681099 | 122 | K>E | No |
TOPMed gnomAD |
|
| COSM926019 | 122 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs369069267 | 124 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs369069267 | 124 | S>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs1315623533 | 127 | D>E | No | gnomAD | |
| TCGA novel | 127 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752186020 | 129 | A>T | No |
ExAC gnomAD |
|
| rs1333764799 | 132 | I>M | No | gnomAD | |
| rs1338428355 | 132 | I>T | No | gnomAD | |
| rs202072152 | 133 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs149834775 | 133 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs202072152 | 133 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs867233050 | 134 | A>T | No | Ensembl | |
| rs1429159905 | 135 | R>S | No | gnomAD | |
| rs1386452385 | 136 | A>S | No | gnomAD | |
| rs766606071 | 137 | C>R | No |
ExAC TOPMed gnomAD |
|
| rs1858397042 | 138 | Q>R | No | Ensembl | |
| rs761102750 | 139 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1361294158 | 139 | R>K | No | TOPMed | |
| rs751011585 | 140 | V>G | No |
ExAC gnomAD |
|
| rs1032259995 | 140 | V>L | No | Ensembl | |
| rs762043083 | 141 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs768134997 | 141 | V>L | No |
ExAC gnomAD |
|
| rs768928974 | 142 | V>I | No |
ExAC gnomAD |
|
| rs199655982 | 143 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs1396903719 | 144 | V>G | No | TOPMed | |
| rs147810576 | 146 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs147810576 | 146 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs144309821 | 146 | A>V | No |
ESP gnomAD |
|
| rs773602218 | 147 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1352612584 | 148 | I>M | No | gnomAD | |
| rs1283371241 | 148 | I>S | No | TOPMed | |
| rs1858388415 | 148 | I>V | No | Ensembl | |
| rs140359001 | 151 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM1353244 | 152 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1366219330 | 152 | S>T | No | gnomAD | |
| rs778248566 | 153 | G>S | No |
ExAC gnomAD |
|
| rs1421953967 | 154 | I>L | No | TOPMed | |
| rs1590213198 | 155 | P>L | No | Ensembl | |
| rs1590213198 | 155 | P>R | No | Ensembl | |
| rs748945721 | 155 | P>T | No |
ExAC gnomAD |
|
| rs756614128 | 156 | D>E | No |
ExAC gnomAD |
|
| rs1246020758 | 156 | D>G | No |
TOPMed gnomAD |
|
| rs779729443 | 156 | D>N | No |
ExAC gnomAD |
|
| rs1858381167 | 157 | F>I | No | gnomAD | |
| rs750804409 | 157 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs768153460 | 158 | R>* | No |
ExAC gnomAD |
|
| rs768153460 | 158 | R>G | No |
ExAC gnomAD |
|
| rs1359419115 | 158 | R>S | No |
TOPMed gnomAD |
|
| rs774224707 | 159 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs200027212 | 160 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs200027212 | 160 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs200027212 | 160 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs775083777 | 160 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1858345060 | 161 | G>R | No | TOPMed | |
| rs2133938632 | 162 | S>G | No | Ensembl | |
| rs1187753485 | 162 | S>R | No | gnomAD | |
| rs778152263 | 163 | G>D | No |
ExAC TOPMed gnomAD |
|
| COSM1475340 | 164 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1029390219 | 164 | L>P | No | TOPMed | |
| rs1564814543 | 164 | L>V | No | Ensembl | |
| rs1208227096 | 165 | Y>C | No | gnomAD | |
| rs1858339575 | 166 | S>C | No | TOPMed | |
| rs1858339131 | 166 | S>N | No | Ensembl | |
| rs201651346 | 167 | N>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201651346 | 167 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1858337591 | 168 | L>F | No | TOPMed | |
| rs1858337146 | 168 | L>P | No | TOPMed | |
|
COSM3446370 rs1365031210 |
169 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs1230678743 | 169 | Q>P | No |
TOPMed gnomAD |
|
| rs1230678743 | 169 | Q>R | No |
TOPMed gnomAD |
|
| rs1016606459 | 170 | Q>H | No |
TOPMed gnomAD |
|
| rs554747177 | 170 | Q>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs554747177 | 170 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs538372641 | 171 | Y>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1247209804 | 171 | Y>C | No |
TOPMed gnomAD |
|
| rs1858332115 | 172 | D>A | No | TOPMed | |
| COSM2152837 | 172 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs766584758 | 172 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs766584758 | 172 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1263819659 | 173 | L>I | No |
TOPMed gnomAD |
|
| rs1263819659 | 173 | L>V | No |
TOPMed gnomAD |
|
| rs200996811 | 174 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200996811 | 174 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1265640707 | 175 | Y>F | No | Ensembl | |
|
rs762910775 COSM3446369 |
177 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1708078021 | 178 | A>T | No | Ensembl | |
| rs775164206 | 179 | I>V | No |
ExAC gnomAD |
|
| rs769465632 | 182 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1858326300 | 183 | P>L | No | TOPMed | |
| rs1472623325 | 185 | F>L | No | gnomAD | |
| COSM926018 | 187 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770554922 | 187 | H>Y | No |
ExAC gnomAD |
|
| rs199531458 | 190 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs201276555 | 191 | P>A | No |
TOPMed gnomAD |
|
| rs200782697 | 191 | P>L | No | TOPMed | |
| rs201276555 | 191 | P>T | No |
TOPMed gnomAD |
|
|
COSM5554036 rs2133937737 |
192 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1858320903 | 193 | F>Y | No | gnomAD | |
| rs748705829 | 194 | T>A | No |
ExAC gnomAD |
|
| rs1311112391 | 196 | A>V | No | gnomAD | |
| rs199643720 | 198 | E>* | No |
TOPMed gnomAD |
|
| rs1858318635 | 199 | L>M | No | Ensembl | |
| rs1858317754 | 200 | Y>F | No | TOPMed | |
| rs779362647 | 201 | P>T | No | ExAC | |
| rs1310522833 | 203 | N>S | No |
TOPMed gnomAD |
|
| rs1858315557 | 203 | N>Y | No |
TOPMed gnomAD |
|
| rs1411160748 | 204 | Y>C | No | gnomAD | |
| rs145984757 | 204 | Y>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs752313156 | 205 | K>N | No | Ensembl | |
| rs1858313982 | 205 | K>R | No | Ensembl | |
| rs61744899 | 207 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs191104319 | 207 | N>S | No |
1000Genomes ExAC gnomAD |
|
| rs191104319 | 207 | N>T | No |
1000Genomes ExAC gnomAD |
|
| rs11246020 | 208 | V>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1858311068 | 208 | V>G | No | Ensembl | |
|
rs11246020 VAR_051978 |
208 | V>I | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 209 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1794097 | 210 | H>Q | No |
ExAC gnomAD |
|
| rs1858309759 | 211 | Y>C | No | Ensembl | |
| rs1413014541 | 212 | F>S | No | gnomAD | |
| rs200303594 | 213 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs200303594 | 213 | L>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs200303594 | 213 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1734492 | 214 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs765977495 | 214 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs765977495 | 214 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1734492 | 214 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1158730347 | 216 | L>R | No | TOPMed | |
| rs772528818 | 217 | H>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM687686 | 217 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772528818 | 217 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1268398435 | 219 | K>E | No | gnomAD | |
| rs1229792411 | 220 | G>R | No | gnomAD | |
| rs1858303846 | 222 | L>F | No | Ensembl | |
| rs200084876 | 222 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs769093876 | 224 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs202208408 | 224 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1389029561 | 226 | Y>C | No | gnomAD | |
| rs546753768 | 226 | Y>H | No |
1000Genomes ExAC gnomAD |
|
| rs201012829 | 227 | T>A | No |
TOPMed gnomAD |
|
| rs756315025 | 227 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs756315025 | 227 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs781263507 | 229 | N>D | No |
ExAC gnomAD |
|
| TCGA novel | 229 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs201586881 | 230 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs752478762 | 231 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs752478762 | 231 | D>N | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 232 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1858296965 | 234 | E>Q | No | TOPMed | |
| rs200625315 | 235 | R>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1857806494 | 236 | V>A | No | Ensembl | |
| rs371590252 | 237 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1297123306 | 238 | G>V | No |
TOPMed gnomAD |
|
| rs770139327 | 239 | I>T | No |
ExAC gnomAD |
|
| rs555278374 | 240 | P>L | No |
1000Genomes ExAC gnomAD |
|
| rs1857803566 | 240 | P>S | No | Ensembl | |
| rs1857802819 | 241 | A>D | No | TOPMed | |
| COSM4929696 | 242 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1857801376 | 244 | L>P | No | gnomAD | |
| rs202147171 | 244 | L>V | No |
TOPMed gnomAD |
|
| rs374232286 | 245 | V>A | No |
ESP TOPMed gnomAD |
|
| rs1217052787 | 247 | A>T | No | TOPMed | |
| rs1190036167 | 248 | H>L | No | gnomAD | |
| rs201248423 | 248 | H>Y | No | Ensembl | |
| rs200275187 | 250 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1276726731 | 254 | A>V | No |
TOPMed gnomAD |
|
| rs1338516362 | 255 | T>A | No |
TOPMed gnomAD |
|
| rs1734491 | 255 | T>N | No | Ensembl | |
| rs377446199 | 256 | C>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs749025170 | 257 | T>I | No |
ExAC gnomAD |
|
| rs1348147622 | 259 | C>W | No | gnomAD | |
| rs201985813 | 261 | R>T | No |
ExAC TOPMed gnomAD |
|
|
RCV000963938 rs61748606 |
262 | P>H | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1857789115 | 262 | P>S | No |
TOPMed gnomAD |
|
| rs1857786399 | 265 | G>R | No |
TOPMed gnomAD |
|
| COSM1287936 | 265 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1055707511 | 266 | E>* | No | TOPMed | |
| rs199663456 | 269 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs780636158 | 269 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1412349361 | 270 | A>V | No |
TOPMed gnomAD |
|
| rs1384772722 | 271 | D>N | No | TOPMed | |
| rs745845611 | 272 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs745845611 | 272 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1331541089 | 273 | M>T | No |
TOPMed gnomAD |
|
| rs1209118094 | 273 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1856849238 | 274 | A>P | No | TOPMed | |
| rs143392832 | 276 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1856847817 | 277 | V>G | No |
TOPMed gnomAD |
|
| rs746455495 | 278 | P>L | No |
ExAC gnomAD |
|
| rs1405947974 | 278 | P>S | No | gnomAD | |
| rs199552510 | 279 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs199552510 | 279 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs142592164 | 279 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs201576457 | 281 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs765568528 | 281 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs766977903 | 282 | V>I | No |
ExAC gnomAD |
|
| rs760852779 | 283 | C>F | No | ExAC | |
| rs1856844252 | 283 | C>S | No | Ensembl | |
| rs773359296 | 284 | T>I | No |
ExAC gnomAD |
|
| rs973181497 | 285 | G>A | No | Ensembl | |
| rs147722093 | 285 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1208700824 | 286 | V>A | No | gnomAD | |
|
rs1162333200 COSM926004 |
286 | V>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs200209873 | 289 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs200209873 | 289 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1856840538 | 289 | P>S | No | Ensembl | |
| rs201289946 | 290 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM1353212 | 291 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs145518170 | 291 | I>V | No |
ESP TOPMed |
|
| COSM3809001 | 292 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1317251933 | 294 | F>S | No | TOPMed | |
| rs1564808477 | 295 | G>E | No | Ensembl | |
| rs1856836855 | 295 | G>R | No |
TOPMed gnomAD |
|
| rs201905714 | 297 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1590144259 | 299 | P>S | No | Ensembl | |
| rs1217541290 | 300 | Q>E | No | gnomAD | |
| rs1856834676 | 300 | Q>P | No | Ensembl | |
| rs777213044 | 304 | L>P | No |
ExAC gnomAD |
|
| rs1298958024 | 305 | H>N | No | gnomAD | |
| rs1231118539 | 305 | H>R | No | gnomAD | |
| rs1298958024 | 305 | H>Y | No | gnomAD | |
| rs1363390088 | 306 | V>A | No |
TOPMed gnomAD |
|
| rs1363390088 | 306 | V>E | No |
TOPMed gnomAD |
|
| rs201762879 | 306 | V>L | No | Ensembl | |
| rs1856831919 | 308 | D>N | No | TOPMed | |
| rs1856831594 | 309 | F>C | No | TOPMed | |
| rs1856831289 | 310 | P>S | No | Ensembl | |
| rs757902572 | 311 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs868391020 | 311 | M>V | No | Ensembl | |
| rs1429665445 | 312 | A>V | No | gnomAD | |
| rs1856829987 | 313 | D>G | No |
TOPMed gnomAD |
|
| rs1002218886 | 314 | L>V | No |
TOPMed gnomAD |
|
| rs200605181 | 316 | L>F | No |
TOPMed gnomAD |
|
| rs1374797893 | 316 | L>P | No | gnomAD | |
| rs1436827488 | 317 | I>L | No |
TOPMed gnomAD |
|
| rs778621111 | 318 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1010377667 | 319 | G>E | No |
TOPMed gnomAD |
|
| rs1186264290 | 319 | G>R | No | TOPMed | |
| TCGA novel | 319 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs551570 | 320 | T>I | No |
TOPMed gnomAD |
|
| rs551570 | 320 | T>N | No |
TOPMed gnomAD |
|
| rs1856822447 | 323 | E>* | No | Ensembl | |
| rs754199589 | 323 | E>A | No |
ExAC gnomAD |
|
| rs1380800495 | 324 | V>L | No |
TOPMed gnomAD |
|
| rs1380800495 | 324 | V>M | No |
TOPMed gnomAD |
|
| rs750208270 | 326 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs750208270 | 326 | P>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 327 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1467625159 | 327 | F>L | No | gnomAD | |
| rs1000970460 | 327 | F>S | No | Ensembl | |
| rs1374191509 | 328 | A>T | No | gnomAD | |
| rs767397123 | 328 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs756972549 | 329 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs1856042065 | 329 | S>R | No | Ensembl | |
| rs1211990693 | 331 | T>I | No |
TOPMed gnomAD |
|
| rs762570417 | 332 | E>* | No |
ExAC gnomAD |
|
| COSM925966 | 332 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs762570417 | 332 | E>Q | No |
ExAC gnomAD |
|
| rs1856041014 | 333 | A>V | No |
TOPMed gnomAD |
|
| rs759278864 | 334 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs147582800 | 334 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs147582800 | 334 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs202066094 | 335 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs755367349 | 335 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs755367349 | 335 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs202066094 | 335 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs747320623 | 337 | S>A | No |
ExAC gnomAD |
|
| rs200944124 | 338 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1252921840 | 339 | P>L | No | gnomAD | |
| rs199874973 | 340 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs778916219 | 340 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs374879005 | 341 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1416729777 | 342 | L>R | No | gnomAD | |
| rs1404130233 | 342 | L>V | No |
TOPMed gnomAD |
|
| rs749567306 | 343 | I>V | No |
ExAC gnomAD |
|
| rs780135795 | 344 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs780135795 | 344 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1399223717 | 345 | R>P | No | gnomAD | |
|
rs1399223717 COSM925965 |
345 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs201115579 | 345 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs764135602 | 346 | D>G | No |
ExAC gnomAD |
|
| rs185287384 | 346 | D>N | No |
1000Genomes ExAC gnomAD |
|
| rs758359142 | 347 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs1247178343 | 348 | V>M | No |
TOPMed gnomAD |
|
| rs1564805387 | 351 | L>S | No | Ensembl | |
| rs1856031475 | 352 | A>P | No | TOPMed | |
| rs764877600 | 355 | P>L | No |
ExAC gnomAD |
|
| rs758962158 | 356 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs371704582 | 356 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs371704582 | 356 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs371704582 | 356 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs149887273 | 357 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1856028619 | 358 | R>G | No | Ensembl | |
| rs772590751 | 360 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs139026266 | 361 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs768849128 | 364 | G>R | No |
ExAC gnomAD |
|
| rs200157246 | 365 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs749317858 | 365 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs749317858 | 365 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs907682812 | 366 | V>L | No |
TOPMed gnomAD |
|
| rs907682812 | 366 | V>M | No |
TOPMed gnomAD |
|
| rs769845879 | 367 | V>A | No |
ExAC gnomAD |
|
| rs200574796 | 367 | V>I | No |
1000Genomes gnomAD |
|
| rs1432928154 | 369 | G>D | No | gnomAD | |
|
VAR_051979 rs3020901 |
369 | G>S | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1432928154 | 369 | G>V | No | gnomAD | |
| rs146003473 | 370 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 371 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1179483245 | 372 | S>G | No | gnomAD | |
| rs1018915141 | 372 | S>R | No | Ensembl | |
| rs1437028903 | 373 | L>P | No | gnomAD | |
| rs754529225 | 374 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs754529225 | 374 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs753218983 | 376 | L>F | No |
ExAC gnomAD |
|
| rs760195432 | 377 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs181924090 | 379 | W>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs181924090 | 379 | W>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs750639090 | 379 | W>R | No |
TOPMed gnomAD |
|
| rs200928165 | 380 | T>I | No | gnomAD | |
| rs200928165 | 380 | T>R | No | gnomAD | |
| TCGA novel | 381 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1239035331 | 381 | E>K | No | gnomAD | |
| rs201069150 | 384 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1483275927 | 385 | D>N | No |
TOPMed gnomAD |
|
| rs1742811886 | 386 | L>P | No | gnomAD | |
| rs200076829 | 386 | L>V | No | gnomAD | |
| rs774898657 | 387 | V>G | No |
ExAC gnomAD |
|
| rs1031154844 | 387 | V>L | No | TOPMed | |
| rs111450242 | 388 | Q>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200203977 | 389 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs763102480 | 389 | R>W | No |
ExAC TOPMed gnomAD |
|
| COSM1321732 | 390 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1469602589 | 392 | G>V | No | gnomAD | |
| rs139644721 | 393 | K>N | No |
ESP ExAC gnomAD |
|
| rs1410632412 | 394 | L>H | No |
TOPMed gnomAD |
|
| rs1410632412 | 394 | L>P | No |
TOPMed gnomAD |
|
| rs766729565 | 395 | D>G | No |
ExAC gnomAD |
|
| rs1855688635 | 395 | D>N | No | Ensembl | |
| rs201144283 | 397 | P>R | No | Ensembl | |
| rs769058001 | 398 | D>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs933049166 | 399 | K>T | No | TOPMed |
No associated diseases with Q9NTG7
3 regional properties for Q9NTG7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Heat shock protein 70, conserved site | 11 - 18 | IPR018181-1 |
| conserved_site | Heat shock protein 70, conserved site | 199 - 212 | IPR018181-2 |
| conserved_site | Heat shock protein 70, conserved site | 336 - 350 | IPR018181-3 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.1.286 | Transferring groups other than amino-acyl groups |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| NAD+ binding | Binding to the oxidized form, NAD, of nicotinamide adenine dinucleotide, a coenzyme involved in many redox and biosynthetic reactions. |
| NAD-dependent histone deacetylase activity | Catalysis of the reaction |
| NAD-dependent protein deacetylase activity | Catalysis of the removal of one or more acetyl groups from a protein, requiring NAD. |
| sequence-specific DNA binding | Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
| transferase activity | Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. |
| zinc ion binding | Binding to a zinc ion (Zn). |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| aerobic respiration | The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor. |
| negative regulation of ERK1 and ERK2 cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| negative regulation of reactive oxygen species metabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of reactive oxygen species metabolic process. |
| peptidyl-lysine deacetylation | The removal of an acetyl group from an acetylated lysine residue in a peptide or protein. |
| positive regulation of catalase activity | Any process that activates or increases the frequency, rate or extent of catalase activity. |
| positive regulation of ceramide biosynthetic process | Any process that activates or increases the frequency, rate or extent of ceramide biosynthetic process. |
| positive regulation of insulin secretion | Any process that activates or increases the frequency, rate or extent of the regulated release of insulin. |
| positive regulation of superoxide dismutase activity | Any process that activates or increases the frequency, rate or extent of superoxide dismutase activity. |
| protein deacetylation | The removal of an acetyl group from a protein amino acid. An acetyl group is CH3CO-, derived from acetic acid. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9I7I7 | Sirt2 | NAD-dependent protein deacetylase Sirt2 | Drosophila melanogaster (Fruit fly) | SS |
| Q8IXJ6 | SIRT2 | NAD-dependent protein deacetylase sirtuin-2 | Homo sapiens (Human) | EV |
| Q96EB6 | SIRT1 | NAD-dependent protein deacetylase sirtuin-1 | Homo sapiens (Human) | PR |
| Q8N6T7 | SIRT6 | NAD-dependent protein deacylase sirtuin-6 | Homo sapiens (Human) | PR |
| Q8VDQ8 | Sirt2 | NAD-dependent protein deacetylase sirtuin-2 | Mus musculus (Mouse) | SS |
| Q8R104 | Sirt3 | NAD-dependent protein deacetylase sirtuin-3 | Mus musculus (Mouse) | SS |
| Q5RJQ4 | Sirt2 | NAD-dependent protein deacetylase sirtuin-2 | Rattus norvegicus (Rat) | PR |
| Q7ZVK3 | sirt2 | NAD-dependent protein deacetylase sirtuin-2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAFWGWRAAA | ALRLWGRVVE | RVEAGGGVGP | FQACGCRLVL | GGRDDVSAGL | RGSHGARGEP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LDPARPLQRP | PRPEVPRAFR | RQPRAAAPSF | FFSSIKGGRR | SISFSVGASS | VVGSGGSSDK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GKLSLQDVAE | LIRARACQRV | VVMVGAGIST | PSGIPDFRSP | GSGLYSNLQQ | YDLPYPEAIF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ELPFFFHNPK | PFFTLAKELY | PGNYKPNVTH | YFLRLLHDKG | LLLRLYTQNI | DGLERVSGIP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ASKLVEAHGT | FASATCTVCQ | RPFPGEDIRA | DVMADRVPRC | PVCTGVVKPD | IVFFGEPLPQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RFLLHVVDFP | MADLLLILGT | SLEVEPFASL | TEAVRSSVPR | LLINRDLVGP | LAWHPRSRDV |
| 370 | 380 | 390 | |||
| AQLGDVVHGV | ESLVELLGWT | EEMRDLVQRE | TGKLDGPDK |