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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 (http://tools.niehs.nih.gov/polg/docs/alignment.pdf)   (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.

- Select Mutation - View All Mutations R3P P18S ±Glu at aa 43-55 Q43R Q49E S64L A143V R193Q C224Y R227W R227P R232G R232H W235stop P241L L244P T251I G268A L304R Q308H R309L R309H W312R P324S T326fsX387 G380D L392V L424 (CT)deletion - 452stop L428P G431V S433C T452stop L463F A467T N468D Q497H S511N G517V R546C K561M R562Q R574W R579W P587L M603L R627W R627Q P648R E662K R709stop R722H G737R W748S F749S G763R A767D 2354Gins at G785 R807P R807C IVS15 - 9 - c.2485del 12bp Y831C G848S T851A R852C R853W N864S E873stop Q879H T885S A889T T914P G923D H932Y R943H R953C Y955C A957S A957P F961S L83P G888S R964C L965stop L966R W1020stop R1047Q R1047W G1051R G1076V R1096C R1096H S1104C A1105T V1106I R1142W R1146C E1143G 3482 +2T to C M1163R F1164I L1173fs stop S1176L D1184N R1187W K1191N Y1210fs1216stop S1230F Q1236H

Visual overview of the POLG mutations. Download larger view.

This page URL: http://tools.niehs.nih.gov/polg/index.cfm
NIEHS website: http://www.niehs.nih.gov/
Email the Web Manager at webmanager@niehs.nih.gov

Last Reviewed: 7 April 2006