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Mutation Query
Allele 1:R1096C

Allelic information known

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1096
Residue R1096
Cluster assignment:
Cluster 3
Cluster description:Partitioning loop
Subcluster:3D (residues 1047-1096)
Subcluster description:The partitioning loop, which is a novel structural module conserved in PolG (residues 1050-1095) that is located between the fingers and palm subdomains of the pol domain, and is not present in any other known DNA polymerase (Euro et al, 2011).
POLG domain:Polymerase domain
Mutation Information
R1096C
Number of patients:

(with R1096C)

15
Found as the only mutation:7% of entries (1 patient)
Found together with:
Non-allelic
53
R1096C
13
Q1236H
7
P648R
7
G848S
7
T914P
7
A467T
7
W748S
7
L591F
%
Allelic
13
Q1236H
%
Show Patient Data

Mutations in only a single POLG allele rarely cause POLG-related syndromes. The few known dominant mutations have consistently exhibited late/ adult disease onset in patients.For further information, please see our analysis of dominant POLG mutations, and the full list of dominant mutations.

Database patient data suggests that R1096C is a recessive mutation.This mutation is unlikely to cause a POLG-related syndrome by itself.

See full list of putatively-dominant POLG mutations

New Mutation Query
Type in POLG mutations:
Allele 1:Allele 2:
Allelic information known
Allelic information not known
Example input: A467T T914P
Mutations in the same allele can be separated with a comma
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