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

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
2G4C (CHAIN: A)
1 Q9UHN1  
2 Q9UHN1   P54098  

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Format:

Molecule viewer


Only interaction residues
#binding
partners
  2
  1
  0

Sequence information

1   MRGSHHHHHH   GSTMDAGQPE   LLTERSSPKG   GHVKSHAELE   GNGEHPEAPG   50
51   SGEGSEALLE   ICQRRHFLSG   SKQQLSRDSL   LSGCHPGFGP   LGVELRKNLA   100
101   AEWWTSVVVF   REQVFPVDAL   HHKPGPLLPG   DSAFRLVSAE   TLREILQDKE   150
151   LSKEQLVTFL   ENVLKTSGKL   RENLLHGALE   HYVNCLDLVN   KRLPYGLAQI   200
201   GVCFHPVFDT   KQIRNGVKSI   GEKTEASLVW   FTPPRTSNQW   LDFWLRHRLQ   250
251   WWRKFAMSPS   NFSSSDCQDE   EGRKGNKLYY   NFPWGKELIE   TLWNLGDHEL   300
301   LHMYPGNVSK   LHGRDGRKNV   VPCVLSVNGD   LDRGMLAYLY   DSFQLTENSF   350
351   TRKKNLHRKV   LKLHPCLAPI   KVALDVGRGP   TLELRQVCQG   LFNELLENGI   400
401   SVWPGYLETM   QSSLEQLYSK   YDEMSILFTV   LVTETTLENG   LIHLRSRDTT   450
451   MKEMMHISKL   KDFLIKYISS   AKNV       500

Variants

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 -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.