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Mutation Query
Allele 1:E1143G, W748S
Allele 2: R993C

Allelic information known

Refine query
7489931143
Residue W748
Cluster assignment:
Cluster 5
Cluster description:Putative protein-protein interactions
Subcluster:5B (residues 737-749)
Subcluster description:Located in the periphery of the IP subdomain of the spacer domain, distant from the DNA binding channel
POLG domain:Spacer domain
Residue R993
Cluster assignment:
SNP
Cluster description:Single Nucleotide Polymorphism
POLG domain:Polymerase domain
Residue E1143
Cluster assignment:
SNP
Cluster description:Single Nucleotide Polymorphism
POLG domain:Polymerase domain
Mutation Information
E1143G
Number of patients:

(with E1143G)

95
Found as the only mutation:1% of entries (1 patient)
Found together with:
Non-allelic
40
W748S
39
E1143G
18
A467T
13
G848S
5
PNF
3
R852C
2
G11D
2
Q497H
2
L244P
1
L304R
%
Also:
G737R (1%) R807C (1%) T914P (1%)
H1110Y (1%) Q1236H (1%) L752P (1%)
R232H (1%) R722H (1%) T885S (1%)
A143V (1%) E1163G (1%) R993C (1%)
S433C (1%)
Allelic
93
W748S
8
Q497H
2
A889T
1
R943C
1
G746S
1
Q879H
%

PNF=Putatively Non-Functional enzyme

Show Patient Data
W748S
Number of patients:

(with W748S)

181
Found together with:
Non-allelic
38
W748S
24
A467T
21
E1143G
10
G848S
4
PNF
4
T914P
3
R852C
2
G11D
2
P587L
1
T251I
%
Also:
S28C (1%) R953C (1%) R627W (1%)
Q497H (1%) L244P (1%) L304R (1%)
P589L (1%) R807C (1%) D930N (1%)
R852H (1%) H1110Y (1%) Q1236H (1%)
G888D (1%) G737R (1%) L752P (1%)
P1073L (1%) R232H (1%) R722H (1%)
R1096C (1%) A143V (1%) E1163G (1%)
R993C (1%) R869X (1%) V1106A (1%)
I1185N (1%)
Allelic
48
E1143G
4
Q497H
1
K561M
1
E1142G
%

PNF=Putatively Non-Functional enzyme

Show Patient Data
R993C
Number of patients:

(with R993C)

1
Non-allelic with:W748S (100%) E1143G (100%)
Show Patient Data
Database patient data is inconclusive about the dominant status of mutation W748S.

See full list of putatively-dominant POLG mutations

Database patient data suggest that E1143G is a known SNP.This mutation is unlikely to cause a POLG-related syndrome.

See full list of known POLG SNPs.

The following information is based on PON-P2 mutation pathogenicity prediction software results.
Cluster 5 mutation with a non-cluster-mapping mutation (SNP) R993C
PON-P2 predictions results for R993C
Pathogenicity:Pathogenic
Probability:0.865
Standard Error:0.051
Prediction result is based on sequence analysis only and may not be accurate.

Risk of POLG-related syndromes exists.
Mutation pathogenicity prediction suggests that this mutation could be pathogenic. Predicted chance of pathogenicity is 86.5%.

See further details for residue 993.

All mutations mapping into the pathogenic clusters are in high risk of being pathogenic. As a rule, a patient must have a pathogenic mutation in both of his/ her POLG genes to develop a POLG-related syndrome.
Prediction results for E1143G gene1, SNP (not considered for pathogenicity information)
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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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