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Mutation Query
Allele 1:R232H

Allelic information known

Refine query
232
Residue R232
Cluster assignment:
Cluster 4
Cluster description:Distal accessory subunit interface
Subcluster:4A (residues 224-244)
Subcluster description:These mutations map to the exo domain along the distal accessory subunit interface.
POLG domain:Exonuclease domain
Mutation Information
R232H
Number of patients:

(with R232H)

8
Found as the only mutation:38% of entries (3 patients)
Found together with:
Non-allelic
25
A467T
13
G737R
13
G848S
13
W748S
13
E1143G
%
Allelic
25
H277L
13
S64L
%
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 is inconclusive about the dominant status of mutation R232H.

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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