POLG

is a	gene
is	mentioned by
Full name	polymerase (DNA directed), gamma
EntrezGene	5428
PheGenI	5428
VariationViewer	5428
ClinVar	POLG
GeneCards	POLG
dbSNP	5428
Diseases	POLG
SADR	5428
HugeNav	5428
wikipedia	POLG
google	POLG
gopubmed	POLG
EVS	POLG
HEFalMp	POLG
MyGene2	POLG
23andMe	POLG
UniProt	P54098
Ensembl	ENSG00000140521
OMIM	174763
# SNPs	109

	Max Magnitude	Chromosome position	Summary
i5006724
i5006725
i5006729
i5006731
rs1057517803	0	89,330,113
rs1057517891	0	89,333,346
rs1057518035	0	89,317,538
rs1064793493	0	89,319,351
rs1064794214	0	89,325,525
rs1064794735	0	89,333,369
rs1085307741	0	89,317,446
rs1085307976	0	89,333,187
rs113994093	3	89,330,241
rs113994094	3	89,330,184
rs113994095	7	89,327,201
rs113994096	3	89,325,639
rs113994097	7	89,323,426
rs113994098	7	89,321,792
rs113994099	3	89,320,883
rs113994100	3	89,317,531
rs113994101	3	89,317,388
rs121918044	0	89,329,055
rs121918045	0	89,333,747
rs121918046	0	89,325,520
rs121918047	0	89,321,242
rs121918048	0	89,320,953
rs121918049	0	89,319,053
rs121918050	0	89,321,743
rs121918051	0	89,320,878
rs121918052	0	89,327,006
rs121918053	0	89,321,777
rs121918054	0	89,323,460
rs121918055	0	89,326,965
rs121918056	0	89,330,257
rs138929605	0	89,330,106
rs139562274	0	89,317,389
rs139590686	0	89,321,007
rs139717885	0	89,325,610
rs141367015	0	89,330,081
rs142347031	0	89,320,850
rs144500145	0	89,321,780
rs181860632	0	89,319,065
rs199759055	0	89,328,699
rs200309005	0	89,320,832
rs201144044	0	89,318,677
rs201477273	0	89,320,857
rs201732356	0	89,318,737
rs202037973	0	89,323,423
rs202039305	0	89,333,553
rs2238296	0	89,332,098
... further results

POLG is a gene that codes for the catalytic subunit of the mitochondrial DNA polymerase, called DNA polymerase gamma.Wikipedia

Mutations in the POLG gene are associated with several mitochondrial diseases, including Alpers' disease, ataxia-neuropathy disorders, and dominant and recessive forms of progressive external ophthalmoplegia. A review of POLG-related disorders can be found here.

Two useful resources listing mutations in the POLG coding region and their associated diseases are:

• the Human DNA Polymerase Gamma Mutation Database
• the POLG Pathogenicity Prediction Server

Collectively accounting for the mutations found in 70% of patients with Alpers-Huttenlocher syndrome (AHS) are the following three mutations:

• rs113994095, A467T
• rs113994097, W748S
• rs113994098, G848S

There are at least 50 more POLG mutations annotated as pathogenic in ClinVar; ones discussed in the GeneReviews beyond the most common three are:

• rs113994093, R232H
• rs113994094, T251I
• rs113994096, P587L
• rs113994099, Y955C
• rs113994100, M1163R
• rs113994101, G1211R*fs