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Mutation Query
Allele 1:A467T

Allelic information known

Refine query
467
Residue A467
Cluster assignment:
Cluster 2
Cluster description:Upstream DNA binding channel
Subcluster:2A (residues 463-468)
Subcluster description:Subcluster 2A maps to a region of the thumb subdomain of the pol domain at the accessory subunit interface where A467T, N468D and L463F are positioned.
POLG domain:Polymerase domain
Mutation Information
A467T
Number of patients:

(with A467T)

236
Found as the only mutation:3% of entries (6 patients)
Found together with:
Non-allelic
19
A467T
19
W748S
10
G848S
8
PNF
7
E1143G
6
T914P
3
G303R
3
R852C
2
L304R
2
L966R
%
Also:
T251I (1%) P587L (1%) S305R (1%)
G11D (1%) A957P (1%) R627W (1%)
R574W (1%) F749S (1%) R227P (1%)
C418R (1%) P1073L (1%) C1188R (1%)
G737R (1%) R1138C (1%) R627Q (1%)
Q1236H (1%) R232H (1%) H277L (1%)
R3P (1%) F88L (0%) A143V (0%)
R227W (0%) R417T (0%) L428P (0%)
S1095R (0%) R807C (0%) R807H (0%)
L886P (0%) K1191N (0%) L605R (0%)
G588D (0%) H754Q (0%) R597W (0%)
L1113P (0%) P625R (0%) S1104C (0%)
G268A (0%) R275Q (0%) R1096C (0%)
K561M (0%) Q879H (0%) M919T (0%)
S1104F (0%) Q497H (0%)
Allelic
1
PNF
0
T885S
%

PNF=Putatively Non-Functional enzyme

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 A467T.

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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