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Human DNA Polymerase Gamma Mutation Database

NIEHS — Mitochondrial DNA Replication Group

Human DNA polymerase is composed of two subunits, a 140 kDa catalytic subunit encoded by the POLG on chromosome 15q25, and a 55kDa accessory subunit encoded by the POLG2 gene on chromosome 17q23-24.

A number of mutations have been mapped to the gene for the catalytic subunit of DNA polymerase, POLG, and found to be associated with mitochondrial diseases.

This database lists all known mutations in the coding region of the POLG gene and describes the associated disease. This list is maintained by the Mitochondrial DNA Replication Group at NIEHS.

The nucleotide changes are numbered from the initiation Methionine codon and are based on the cDNA (accession U60325.1) and gene sequence (accession AF497906.1).

Alignment Document (  Download Adobe Reader (178 KB)

All inquiries, additions to the list, and comments should be made to Bill Copeland.

Use the drop down box to select a mutation that you want to view more information about.

diagram of POLG mutations

Visual overview of the POLG mutations. Download larger view.

R3P G11D G11D P18S ±Glu at aa 43-55 Q43R Q49E,S64L Q68X L83P G888S H110Y A143V R193Q C224Y R227W R227P R232G R232H R232H W235stop P241L L244P T251I T251I G268A H277C L304R L304R S305R Q308H R309L R309H W312R P324S T326fsX387 W347_L356 del R374X G380D L392V R417T C418R L424GfsX28 (CT)deletion - 452stop L428P M430L G431V S433C T452stop L463F A467T A467T N468D Q497H Q497H S511N G517V R546C K561M R562Q H569Q R574W R574W R579W P587L P587L P589L R597W M603L L605R R617C R627W R627W R627W R627Q R627Q R627Q P648R P648R E662K R709stop Q715X c. 2157+5_+6 R722H G737R G737R G737R G746S W748S W748S W748S F749S G763R G763R A767D 2354Gins at G785 R807P R807C c. 2480+1 IVS15 - 9 - c.2485del 12bp Y831C Y831C G848S G848S T849H T851A R852C R852C R853W R853Q V855A A862T N864S E873stop Q879H T885S L886P A889T T914P W918R G923D H932Y H932Y R943C R943H R953C Y955C A957S A957P F961S R964C R964C L83P L965stop L966R W1020stop R1047Q R1047W G1051R G1051R G1076V I1079L S1095R R1096C R1096C R1096H S1104C A1105T V1106I R1128H R1138C E1143G E1143G R1142W,R1146C,E1143G 3482 +2T to C M1163R F1164I L1173fs stop S1176L D1184N D1184N R1187W K1191N K1191R D1196N G1205A Y1210fs1216stop S1230F,Q1236H Department of Health & Human Services National Institutes of Health
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Last Reviewed: 7 April 2006