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Mutation Query
Allele 1:A889T, E1143G

Allelic information known

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8891143
Residue A889
Cluster assignment:
Cluster 1
Cluster description:Polymerase active site and environs
Subcluster:1D (residues 848-895)
Subcluster description:This subcluster forms a large portion of the pol active site and contains two highly conserved motifs that are found in all family A polymerases: the RR loop (motif 2) and motif A (Loh and Loeb, 2005).
POLG domain:Polymerase domain
Residue E1143
Cluster assignment:
SNP
Cluster description:Single Nucleotide Polymorphism
POLG domain:Polymerase domain
Mutation Information
A889T
Number of patients:

(with A889T)

3
Allelic with:E1143G (67%)
Non-allelic with:R579W (33%)
Show Patient Data
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

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.

Mutation A889T is found in the database as a single cluster-mapping mutation in patients, which suggests it can be dominant, and may cause a pathogenic phenotype by itself.

Elevated/ significant risk of POLG syndrome exists.

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.

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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