Home Query References Browse Contact
Mutation Query
Mutations:A467T, T914P

Allelic informaton not known

Refine query
467914
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
Residue T914
Cluster assignment:
Cluster 1
Cluster description:Polymerase active site and environs
Subcluster:1E (residues 914-966)
Subcluster description:This subcluster comprises most of the fingers subdomain of the pol domain, including the O-helix and the Pol B motif (Loh and Loeb, 2005).
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
T914P
Number of patients:

(with T914P)

27
Found together with:
Non-allelic
56
A467T
26
W748S
7
PNF
4
R627W
4
E1143G
4
R1096C
4
Q308H
%
Allelic
4
F1164L
%

PNF=Putatively Non-Functional enzyme

Show Patient Data

A467T - Dominant status is inconclusive.

T914P - Cluster mutation, possibly pathogenic

Because the patient has putatively-dominant and pathogenic mutations, a high risk of POLG-syndromes exists.

New Mutation Query
Type in POLG mutations:
All mutations:
Allelic information known
Allelic information not known
Example input: A467T, T914P
Separate mutations by commas
:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: