PDB ID | 2G4C | CHAIN | A |
---|---|---|---|
Protein name | DNA polymerase gamma subunit 2 | ||
Uniprot Accession | Q9UHN1 | ||
The number of similar proteins | 14 | ||
The number of binding states | 2 | ||
The number of binding partners | 2 |
Unicolor (beige)
The number of binding partners
Group
Only interaction residues |
|
||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
78_PHE | SER |
8.3kJPN chr17:62492854 |
rs965620329
|
- | 0.0002 | - | |
82_SER | GLY |
8.3kJPN chr17:62492843 |
-
|
- | 0.0001 | - | |
108_LYS | ASN |
8.3kJPN chr17:62492763 |
rs781804695
|
- | 0.0006 | - | |
110_LEU | VAL |
gnomAD chr17:62492759 |
rs782703026
|
- | 0.000342014 | - | |
121_PHE | VAL |
gnomAD chr17:62492726 |
rs376142071
|
- | 0.000222707 | - | |
133_HIS | TYR |
gnomAD chr17:62492690 |
rs112984118
|
- | 0.000938616 | - | |
153_LEU | VAL |
gnomAD chr17:62492630 |
rs149446102
|
- | 0.000433424 | - | |
154_ARG | LEU |
gnomAD chr17:62492626 |
rs200221112
|
- | 0.000242572 | - | |
155_GLU | TER |
ClinVar chr17:62492624 |
rs533614940
|
Pathogenic | - | not provided [MedGen:C3661900] | |
156_ILE | VAL |
gnomAD chr17:62492621 |
rs137901677
|
- | 0.000151105 | - | |
166_GLN | TER |
ClinVar chr17:62492591 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
166_GLN | GLU |
gnomAD chr17:62492591 |
rs370683331
|
- | 0.000131363 | - | |
169_ALA | THR |
gnomAD chr17:62492582 |
rs1427463
|
- | 0.15085 | - | |
169_ALA | THR |
8.3kJPN chr17:62492582 |
rs1427463
|
- | 0.0413 | - | |
182_ARG | TRP | VAR_078773 |
rs886037843
|
LP/P | - | Mitochondrial DNA depletion syndrome 16, hepatic type (MTDPS16) [MIM:618528] | |
197_LEU | PRO |
gnomAD chr17:62489111 |
rs139282177
|
- | 0.000461302 | - | |
202_LYS | ARG |
8.3kJPN chr17:62489096 |
rs781804821
|
- | 0.0005 | - | |
203_ARG | SER |
8.3kJPN chr17:62489092 |
rs1555668848
|
- | 0.0001 | - | |
205_PRO | ARG |
ClinVar chr17:62489087 |
rs397514659
|
Pathogenic | - | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 [MONDO:MONDO:0012415,MedGen:C1864668,OMIM:610131] | |
206_TYR | CYS |
8.3kJPN chr17:62489084 |
rs781961764
|
- | 0.0002 | - | |
232_GLY | SER |
gnomAD chr17:62488885 |
rs143660836
|
- | 0.000370926 | - | |
245_PRO | LEU |
gnomAD chr17:62488845 |
rs61751984
|
- | 0.000119481 | - | |
248_SER | TER |
ClinVar chr17:62488836 |
rs1316363979
|
Pathogenic | - | not provided [MedGen:C3661900] | |
249_ASN | SER |
8.3kJPN chr17:62488833 |
-
|
- | 0.0002 | - | |
251_TRP | TER |
ClinVar chr17:62488827 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
255_TRP | TER |
ClinVar chr17:62488814 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
257_ARG | CYS |
8.3kJPN chr17:62488810 |
rs781922249
|
- | 0.0001 | - | |
266_PHE | LEU |
8.3kJPN chr17:62487084 |
rs55768876
|
- | 0.0002 | - | |
284_ARG | TRP |
8.3kJPN chr17:62487032 |
rs1263906123
|
- | 0.0001 | - | |
289_LEU | VAL |
gnomAD chr17:62487017 |
rs530697513
|
- | 0.000159072 | - | |
295_TRP | TER |
ClinVar chr17:62486997 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
300_ILE | THR |
8.3kJPN chr17:62486983 |
-
|
- | 0.0001 | - | |
308_ASP | ASN |
8.3kJPN chr17:62486960 |
-
|
- | 0.0001 | - | |
313_HIS | PRO |
gnomAD chr17:62486944 |
rs538593678
|
- | 0.000131265 | - | |
323_HIS | ARG |
8.3kJPN chr17:62486914 |
rs782553050
|
- | 0.0001 | - | |
326_ASP | GLY |
8.3kJPN chr17:62481978 |
rs1212509280
|
- | 0.0001 | - | |
328_ARG | TER |
ClinVar chr17:62481973 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
328_ARG | TER |
8.3kJPN chr17:62481973 |
rs782472762
|
- | 0.0001 | - | |
333_PRO | ALA |
8.3kJPN chr17:62481958 |
-
|
- | 0.0002 | - | |
369_ARG | GLY |
gnomAD chr17:62481850 |
rs201936720
|
- | 0.00295912 | - | |
386_ASP | GLU |
gnomAD chr17:62479069 |
rs61751983
|
- | 0.00699059 | - | |
397_GLN | GLU |
8.3kJPN chr17:62479038 |
rs1555666788
|
- | 0.0004 | - | |
415_PRO | THR |
8.3kJPN chr17:62476455 |
-
|
- | 0.0001 | - | |
416_GLY | ALA | VAR_032029 |
rs17850455
|
LB/B | - | - | |
416_GLY | ALA |
gnomAD chr17:62476451 |
rs17850455
|
- | 0.0102197 | - | |
423_SER | TYR |
gnomAD chr17:62476430 |
rs181583071
|
- | 0.000501756 | - | |
428_LEU | PHE |
gnomAD chr17:62476416 |
rs56299915
|
- | 0.000116649 | - | |
428_LEU | PHE |
8.3kJPN chr17:62476416 |
rs56299915
|
- | 0.0078 | - | |
431_LYS | ASN |
ClinVar chr17:62474105 |
rs863224170
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
433_ASP | TYR | VAR_086017 |
-
|
LP/P | - | Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type (MTDPS16B) [MIM:619425] | |
451_GLY | GLU | VAR_029364 |
rs104894632
|
LP/P | - | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4) [MIM:610131] | |
451_GLY | GLU |
ClinVar chr17:62474046 |
rs104894632
|
Likely pathogenic | - | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4|POLG2-Related Disorders [MONDO:MONDO:0012415,MedGen:C1864668,OMIM:610131|] | |
473_ASP | ASN |
gnomAD chr17:62473981 |
rs563130304
|
- | 0.000196542 | - | |
479_ILE | VAL |
8.3kJPN chr17:62473963 |
rs782133192
|
- | 0.0001 | - |