O00142
PR
Gene name |
TK2 |
Protein name |
Thymidine kinase 2, mitochondrial |
Names |
2'-deoxyuridine kinase TK2, Deoxycytidine kinase TK2, Mt-TK |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7084 |
EC number |
2.7.1.21: Phosphotransferases with an alcohol group as acceptor |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for O00142
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O00142-F1 | Predicted | AlphaFoldDB |
234 variants for O00142
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000032592 rs281865502 |
4 | W>missing | Mitochondrial DNA depletion syndrome, myopathic form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000676917 RCV000379373 CA323868 rs200121712 RCV000199339 |
32 | R>W | Mitochondrial DNA depletion syndrome, myopathic form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000873508 CA320145 RCV000660524 rs201904720 |
41 | P>H | Mitochondrial DNA depletion syndrome, myopathic form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs763416136 RCV001120552 CA8093819 |
42 | D>A | Mitochondrial DNA depletion syndrome, myopathic form [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1454450104 RCV001249197 RCV002570396 |
50 | K>missing | Mitochondrial DNA depletion syndrome, myopathic form [ClinVar] | Yes |
ClinVar dbSNP |
|
CA341232 RCV000013548 rs137854432 VAR_019419 |
53 | I>M | Mitochondrial DNA depletion syndrome, myopathic form MTDPS2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs749123392 CA396192647 RCV000855775 |
57 | G>S | Mitochondrial DNA depletion syndrome, myopathic form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_023790 rs281865487 CA343293 |
64 | T>M | MTDPS2 [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
CA396190652 RCV001772153 RCV000855771 rs1194187379 |
104 | R>C | Mitochondrial DNA depletion syndrome, myopathic form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs137854431 CA324292 VAR_019420 RCV000013547 RCV000199738 |
108 | T>M | Mitochondrial DNA depletion syndrome, myopathic form MTDPS2; reduction of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP |
|
RCV001249200 rs1965109135 |
110 | Q>* | Mitochondrial DNA depletion syndrome, myopathic form [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746707855 RCV000855772 CA8093710 |
113 | V>E | Mitochondrial DNA depletion syndrome, myopathic form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_072789 | 117 | M>V | MTDPS2; severe form of combined brain and muscular atrophy; depletion of mtDNA in skeletal muscle; normal residual mtDNA in blood and fibroblasts [UniProt] | Yes | UniProt |
|
VAR_019421 RCV000013545 rs137854429 RCV001386287 CA320611 |
121 | H>N | Mitochondrial DNA depletion syndrome, myopathic form MTDPS2; reduction of activity in muscles [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001089979 rs886039669 RCV000255167 CA10588620 |
125 | Q>* | Mitochondrial DNA depletion syndrome, myopathic form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001268843 RCV000032247 CA343307 rs281865493 |
130 | R>W | Variant assessed as Somatic; 0.0007454 impact. Mitochondrial DNA depletion syndrome, myopathic form [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs138479499 RCV001927990 CA323276 RCV002266060 |
139 | A>T | Mitochondrial DNA depletion syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_072790 rs281865494 CA322107 |
139 | A>V | MTDPS2; severe form of combined brain and muscular atrophy; depletion of mtDNA in skeletal muscle; normal residual mtDNA in blood and fibroblasts [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000521757 RCV001249199 rs921593414 CA282177615 |
166 | D>V | Mitochondrial DNA depletion syndrome, myopathic form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_023791 rs137886900 RCV000239457 RCV001380377 RCV000032251 CA320800 |
183 | R>W | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 Mitochondrial DNA depletion syndrome, myopathic form MTDPS2 and PEOB3; reduction of activity; reduced affinity for ATP [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs281865495 CA343313 VAR_076984 |
188 | T>A | PEOB3; reduction of activity; reduced affinity for ATP [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
VAR_023792 RCV000032253 CA343315 RCV000494549 rs281865496 |
192 | R>K | Mitochondrial DNA depletion syndrome, myopathic form MTDPS2; reduction of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000032254 RCV000498843 rs281865501 RCV002265574 |
202 | K>missing | Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome, myopathic form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001856578 CA8093595 rs141225776 RCV001120243 |
207 | E>V | Mitochondrial DNA depletion syndrome, myopathic form [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000013546 rs137854430 CA341231 VAR_019422 |
212 | I>N | Mitochondrial DNA depletion syndrome, myopathic form MTDPS2; reduction of activity in muscles [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002223138 RCV001879750 RCV001249198 rs1168827071 CA396187178 |
220 | L>P | Inborn mitochondrial myopathy Mitochondrial DNA depletion syndrome, myopathic form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000727173 RCV000367494 CA322760 RCV002515442 rs754140768 |
227 | P>L | Variant assessed as Somatic; 4.619e-05 impact. Inborn genetic diseases Mitochondrial DNA depletion syndrome, myopathic form [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001538100 RCV001116978 CA8093554 rs144419486 |
255 | I>V | Mitochondrial DNA depletion syndrome, myopathic form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs748471472 CA8093855 |
4 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1200381765 CA396194486 |
4 | W>S | No |
ClinGen gnomAD |
|
|
rs1567544384 CA396194468 |
5 | P>A | No |
ClinGen Ensembl |
|
|
rs1482675601 CA396194450 |
5 | P>L | No |
ClinGen gnomAD |
|
|
CA8093854 rs779367525 |
6 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA396194436 rs1351090941 |
7 | R>Q | No |
ClinGen gnomAD |
|
|
CA396194427 rs1337310934 |
8 | G>D | No |
ClinGen gnomAD |
|
|
CA396194430 rs1239555126 |
8 | G>R | No |
ClinGen gnomAD |
|
|
CA396194350 rs1395399302 |
11 | A>T | No |
ClinGen gnomAD |
|
|
RCV000595954 rs1555528805 |
11 | A>missing | No |
ClinVar dbSNP |
|
|
CA396194348 rs1395399302 |
11 | A>S | No |
ClinGen gnomAD |
|
|
CA396194338 rs1402742728 |
11 | A>V | No |
ClinGen gnomAD |
|
|
rs1417888793 CA396194330 |
12 | R>Q | No |
ClinGen gnomAD |
|
|
CA396194333 rs1312615654 |
12 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA282199474 rs929088751 |
13 | A>T | No |
ClinGen TOPMed |
|
|
CA8093851 rs748987291 |
13 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187205780 CA396194301 |
15 | R>C | No |
ClinGen gnomAD |
|
|
rs755635315 CA8093849 |
16 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1040247973 CA282199441 |
16 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs113927826 CA282199434 |
17 | F>C | No |
ClinGen Ensembl |
|
|
rs941363194 CA282199437 |
17 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396193769 rs1487006009 |
18 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs780997328 CA8093847 |
19 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8093848 rs551565600 RCV000996283 |
19 | P>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA282199425 rs944531241 |
20 | G>E | No |
ClinGen TOPMed |
|
|
rs1263461990 CA396193736 |
21 | S>G | No |
ClinGen gnomAD |
|
|
CA396193726 rs1243744395 |
21 | S>T | No |
ClinGen gnomAD |
|
|
CA396193713 rs1264291287 |
22 | R>C | No |
ClinGen TOPMed |
|
|
CA396193666 rs1295031957 |
25 | P>S | No |
ClinGen gnomAD |
|
|
rs757161973 CA8093846 |
26 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs191573607 CA396193624 |
27 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8093844 rs191573607 |
27 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1478431262 CA396193620 |
28 | G>S | No |
ClinGen TOPMed |
|
|
CA396193604 rs1175537448 |
28 | G>V | No |
ClinGen TOPMed |
|
|
rs957243665 CA282199392 |
29 | P>H | No |
ClinGen TOPMed |
|
|
CA396193591 rs1336391671 |
30 | G>W | No |
ClinGen gnomAD |
|
|
rs1163069592 RCV001223241 |
31 | P>missing | No |
ClinVar dbSNP |
|
|
rs1420706804 CA396193576 |
31 | P>S | No |
ClinGen gnomAD |
|
|
rs1385461737 CA396193519 |
34 | V>E | No |
ClinGen TOPMed |
|
|
CA10603421 RCV000405257 rs886041321 |
35 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1321580056 CA396193499 |
35 | Q>H | No |
ClinGen TOPMed |
|
|
rs1383669890 CA396193506 |
35 | Q>P | No |
ClinGen TOPMed |
|
|
rs1330434816 CA396193496 |
36 | R>C | No |
ClinGen TOPMed |
|
|
rs550285865 CA282199374 |
36 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1261856762 CA396193478 |
37 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA396193465 rs1239047209 |
38 | A>V | No |
ClinGen TOPMed |
|
|
CA8093842 rs543272850 |
39 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA282199353 rs543272850 |
39 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1014306017 CA282199357 |
39 | W>R | No |
ClinGen TOPMed |
|
|
CA396193451 rs1487093181 |
40 | P>L | No |
ClinGen TOPMed |
|
|
CA8093841 rs760671699 |
41 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs867375073 CA282199328 |
42 | D>Y | No |
ClinGen Ensembl |
|
|
rs775941194 CA8093818 |
44 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA343286 rs281865486 |
45 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA396193306 rs1485860665 |
47 | K>E | No |
ClinGen TOPMed |
|
|
CA8093816 rs745494341 |
49 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA396193251 rs1170449210 |
51 | S>* | No |
ClinGen TOPMed |
|
|
rs776120508 CA396193253 |
51 | S>P | No |
ClinGen ExAC TOPMed |
|
|
CA8093815 rs776120508 |
51 | S>T | No |
ClinGen ExAC TOPMed |
|
|
CA396192672 rs1203258681 |
56 | E>K | No |
ClinGen gnomAD |
|
|
CA8093773 rs749123392 |
57 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138439950 CA343291 |
58 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747276038 RCV000478863 CA8093771 |
61 | S>G | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs281865488 CA343294 |
66 | C>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1356340414 CA396192509 |
68 | E>G | No |
ClinGen gnomAD |
|
|
rs1567539396 CA396192486 |
70 | F>S | No |
ClinGen Ensembl |
|
|
rs766766558 CA8093765 |
71 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8093764 rs761001323 |
72 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs997780363 CA282194622 |
73 | A>T | No |
ClinGen gnomAD |
|
|
CA8093762 rs202214358 |
73 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA396192421 rs1252556663 |
76 | V>I | No |
ClinGen gnomAD |
|
|
CA8093759 rs768662981 |
77 | E>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000521045 rs1348026323 CA396191779 |
78 | V>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs761795822 CA282192334 |
80 | T>A | No |
ClinGen gnomAD |
|
|
rs750719016 CA8093745 |
80 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751112288 CA8093742 |
84 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs751112288 CA8093743 |
84 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1280513552 CA396191613 |
87 | R>G | No |
ClinGen gnomAD |
|
|
rs889900663 CA282192270 |
88 | N>D | No |
ClinGen Ensembl |
|
|
rs1386108008 CA396191587 |
88 | N>S | No |
ClinGen TOPMed |
|
|
rs281865489 CA343297 |
90 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8093741 rs762503733 |
90 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8093740 rs775630435 |
91 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs765263971 CA8093739 |
92 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343299 rs142291440 |
93 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396190682 rs1597094504 |
99 | Y>C | No |
ClinGen Ensembl |
|
|
rs768855219 CA8093714 |
100 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322317 rs148450491 RCV002146052 |
101 | D>N | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs951036179 CA282189287 |
102 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770318536 CA8093712 |
104 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761860999 CA282189273 |
105 | W>* | No |
ClinGen Ensembl |
|
|
CA396190638 rs1271051050 |
106 | G>S | No |
ClinGen gnomAD |
|
|
CA396190614 rs1422517579 |
110 | Q>R | No |
ClinGen TOPMed |
|
|
CA396190601 rs1368964671 |
112 | Y>C | No |
ClinGen gnomAD |
|
|
CA343301 rs281865490 |
112 | Y>N | No |
ClinGen Ensembl |
|
|
CA8093709 rs747399683 |
116 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA396190573 rs1567533723 |
117 | M>L | No |
ClinGen Ensembl |
|
|
rs1376981144 CA396190553 |
119 | D>E | No |
ClinGen gnomAD |
|
|
rs531443847 CA282189240 |
120 | R>K | No |
ClinGen gnomAD |
|
|
rs281865507 CA343304 |
121 | H>N | No |
ClinGen Ensembl |
|
|
rs1454524618 CA396190537 |
122 | T>A | No |
ClinGen gnomAD |
|
|
CA396190531 rs1254883673 |
122 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8093705 rs753881948 |
123 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8093704 rs753881948 |
123 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766332476 CA8093703 |
123 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs281865491 CA343305 |
125 | Q>* | No |
ClinGen gnomAD |
|
|
rs760389661 RCV000416282 CA8093702 |
125 | Q>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA8093683 rs767386957 |
126 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8093682 rs761573639 |
127 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1597091805 CA396190012 |
128 | S>P | No |
ClinGen Ensembl |
|
|
rs1332273034 CA396190005 |
129 | V>I | No |
ClinGen gnomAD |
|
|
CA343309 rs281865492 |
130 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs765442272 CA8093681 CA282187744 |
132 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396189968 rs1474152119 |
133 | E>K | No |
ClinGen gnomAD |
|
|
CA282187728 rs970983506 |
135 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA396189922 rs1333025103 |
137 | H>R | No |
ClinGen gnomAD |
|
|
rs1222819462 CA396189928 |
137 | H>Y | No |
ClinGen TOPMed |
|
|
rs761208148 CA8093677 |
138 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs138479499 CA282187678 RCV000996282 |
139 | A>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1334695526 CA396189879 |
140 | R>T | No |
ClinGen gnomAD |
|
|
rs1555526488 CA324086 |
141 | Y>* | No |
ClinGen Ensembl |
|
|
CA282187661 rs879655330 |
141 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs777086155 CA282187638 |
144 | V>I | No |
ClinGen Ensembl |
|
|
rs766524624 CA396187996 CA8093663 |
152 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1299578150 CA396187998 |
152 | K>R | No |
ClinGen gnomAD |
|
|
CA8093661 rs760653323 |
153 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs374777494 RCV000199938 CA324487 |
157 | D>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs374777494 CA8093660 |
157 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8093659 rs553354595 |
158 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8093658 rs539947146 |
160 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8093657 rs774806103 |
162 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774806103 CA282177643 |
162 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA282177629 rs913981712 |
164 | W>C | No |
ClinGen TOPMed |
|
|
rs546437597 CA282177613 |
171 | N>K | No |
ClinGen Ensembl |
|
|
CA8093654 rs774983805 |
172 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000444886 CA16607436 rs1057520686 RCV001865330 |
172 | M>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs149036717 RCV000521123 CA8093651 |
174 | V>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs149036717 CA8093652 |
174 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8093649 rs746831795 |
175 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA8093648 rs777508830 |
178 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs981402261 CA282177556 |
178 | L>W | No |
ClinGen TOPMed |
|
|
CA396187819 rs1231899604 |
179 | I>T | No |
ClinGen gnomAD |
|
|
CA396187822 rs1276299795 |
179 | I>V | No |
ClinGen gnomAD |
|
|
rs1241350162 CA396187786 |
182 | L>P | No |
ClinGen TOPMed |
|
|
CA343311 rs137886900 |
183 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8093631 rs780333412 |
183 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1358563873 CA396187772 |
185 | N>S | No |
ClinGen gnomAD |
|
|
rs756239167 CA8093630 |
186 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781460567 CA396187757 |
187 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8093627 rs752170003 |
188 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1256393414 CA396187747 |
189 | C>F | No |
ClinGen gnomAD |
|
|
CA8093626 rs764504726 |
189 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs371008061 CA282176845 |
190 | Y>C | No |
ClinGen ESP |
|
|
CA396187709 rs1260130684 |
194 | K>N | No |
ClinGen gnomAD |
|
|
rs886041794 RCV000301105 CA10603541 |
195 | K>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA396187707 rs886041794 |
195 | K>E | No |
ClinGen TOPMed |
|
|
CA8093625 rs752949191 |
196 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396187690 rs1291542795 |
197 | C>F | No |
ClinGen gnomAD |
|
|
rs1331084271 CA396187693 |
197 | C>G | No |
ClinGen gnomAD |
|
|
rs776331857 CA282176791 |
200 | E>D | No |
ClinGen TOPMed |
|
|
rs1324233462 CA396187636 |
203 | V>F | No |
ClinGen TOPMed |
|
|
rs1315106777 CA396187632 |
204 | I>V | No |
ClinGen gnomAD |
|
|
rs368846539 CA8093624 |
205 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8093594 rs771221560 |
208 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1437846690 CA396187332 |
210 | E>K | No |
ClinGen gnomAD |
|
|
rs1321672304 CA396187310 |
211 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs747110476 CA8093593 |
212 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396187293 rs1597074103 |
213 | H>Y | No |
ClinGen Ensembl |
|
|
rs1316000835 CA396187272 |
214 | H>R | No |
ClinGen TOPMed |
|
|
CA343318 rs281865497 |
215 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs538734975 CA8093591 |
216 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748655443 CA8093590 |
219 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA396187135 rs779465340 |
223 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779465340 CA8093589 |
223 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754140768 CA8093588 |
227 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396187071 rs1567523461 |
228 | M>I | No |
ClinGen Ensembl |
|
|
CA396187077 rs766038334 |
228 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8093586 rs755720235 |
228 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs766038334 CA8093587 |
228 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8093585 rs750058780 |
229 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA396187050 rs1597073994 |
230 | A>G | No |
ClinGen Ensembl |
|
|
rs377466522 CA282173708 |
231 | P>A | No |
ClinGen ESP gnomAD |
|
|
rs377466522 CA396187048 |
231 | P>T | No |
ClinGen ESP gnomAD |
|
|
CA8093583 rs576020835 |
232 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8093584 rs576020835 |
232 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1252881799 CA396187021 |
233 | L>P | No |
ClinGen gnomAD |
|
|
rs1315779439 CA396186765 |
235 | I>T | No |
ClinGen gnomAD |
|
|
rs370500055 CA8093560 |
239 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396186728 rs1448554731 |
240 | H>L | No |
ClinGen gnomAD |
|
|
CA396186707 rs1057521899 |
243 | R>W | No |
ClinGen TOPMed |
|
|
rs1315877736 CA396186680 |
246 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA396186667 rs1567522476 |
248 | F>S | No |
ClinGen Ensembl |
|
|
rs772329162 CA8093557 |
252 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV000195974 rs373264612 CA320360 |
252 | R>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs761852321 CA8093556 |
253 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA343320 rs281865498 |
254 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs373646585 CA282172168 |
254 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8093555 rs373646585 |
254 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396186592 rs1342303320 |
260 | N>D | No |
ClinGen gnomAD |
|
|
CA396186591 rs1240754595 |
260 | N>S | No |
ClinGen gnomAD |
|
|
CA282172139 rs780483040 |
261 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8093553 rs780483040 |
261 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866972726 CA282172157 |
261 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1001625307 CA282172126 |
262 | K>N | No |
ClinGen Ensembl |
|
|
CA396186559 rs1288452721 |
265 | P>S | No |
ClinGen gnomAD |
|
|
rs369778804 CA8093551 |
266 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
2 associated diseases with O00142
[MIM: 609560]: Mitochondrial DNA depletion syndrome 2 (MTDPS2)
A disorder due to mitochondrial dysfunction characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later onset of a slowly progressive myopathy. {ECO:0000269|PubMed:11687801, ECO:0000269|PubMed:12391347, ECO:0000269|PubMed:15639197, ECO:0000269|PubMed:15907288, ECO:0000269|PubMed:25446393}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617069]: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 (PEOB3)
A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB3 patients manifest adult-onset progressive external ophthalmoplegia and progressive proximal muscle weakness associated with muscle atrophy. {ECO:0000269|PubMed:21937588}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder due to mitochondrial dysfunction characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later onset of a slowly progressive myopathy. {ECO:0000269|PubMed:11687801, ECO:0000269|PubMed:12391347, ECO:0000269|PubMed:15639197, ECO:0000269|PubMed:15907288, ECO:0000269|PubMed:25446393}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB3 patients manifest adult-onset progressive external ophthalmoplegia and progressive proximal muscle weakness associated with muscle atrophy. {ECO:0000269|PubMed:21937588}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for O00142
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Deoxynucleoside kinase domain | 52 - 260 | IPR031314 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.1.21 | Phosphotransferases with an alcohol group as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| deoxycytidine kinase activity | Catalysis of the reaction: NTP + deoxycytidine = NDP + CMP. |
| deoxynucleoside kinase activity | Catalysis of the reaction: ATP + 2'-deoxynucleoside = ADP + 2'-deoxynucleoside 5'-phosphate. |
| nucleoside kinase activity | Catalysis of the reaction: ATP + nucleoside = ADP + nucleoside monophosphate. |
| thymidine kinase activity | Catalysis of the reaction: ATP + thymidine = ADP + thymidine 5'-phosphate. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| deoxycytidine metabolic process | The chemical reactions and pathways involving deoxycytidine, 2-deoxyribosylcytosine, one of the four major nucleosides of DNA. |
| DNA biosynthetic process | The biosynthetic process resulting in the formation of DNA. |
| nucleobase-containing compound metabolic process | Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. |
| phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
| pyrimidine nucleoside salvage | Any process that generates a pyrimidine nucleoside, one of a family of organic molecules consisting of a pyrimidine base covalently bonded to a sugar ribose, from derivatives of it, without de novo synthesis. |
| thymidine metabolic process | The chemical reactions and pathways involving thymidine, deoxyribosylthymine thymine 2-deoxyriboside, a deoxynucleoside very widely distributed but occurring almost entirely as phosphoric esters in deoxynucleotides and deoxyribonucleic acid, DNA. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLLWPLRGWA | ARALRCFGPG | SRGSPASGPG | PRRVQRRAWP | PDKEQEKEKK | SVICVEGNIA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SGKTTCLEFF | SNATDVEVLT | EPVSKWRNVR | GHNPLGLMYH | DASRWGLTLQ | TYVQLTMLDR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HTRPQVSSVR | LMERSIHSAR | YIFVENLYRS | GKMPEVDYVV | LSEWFDWILR | NMDVSVDLIV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YLRTNPETCY | QRLKKRCREE | EKVIPLEYLE | AIHHLHEEWL | IKGSLFPMAA | PVLVIEADHH |
| 250 | 260 | ||||
| MERMLELFEQ | NRDRILTPEN | RKHCP |