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Mutation Query
Allele 1:Y282D
Allele 2: L304R

Allelic information known

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304
282
Residue Y282
Cluster assignment:
SNP
Cluster description:Single Nucleotide Polymorphism
POLG domain:Exonuclease domain
Residue L304
Cluster assignment:
Cluster 3
Cluster description:Partitioning loop
Subcluster:3B (residues 303-319)
Subcluster description:A helix-coil-helix module (residues 295-312) located in the Exo domain that has been termed the "orienter" module
POLG domain:Exonuclease domain
Mutation Information
Y282D
Number of patients:

(with Y282D)

1
Non-allelic with:L304R (100%)
Show Patient Data
L304R
Number of patients:

(with L304R)

23
Found as the only mutation:13% of entries (3 patients)
Found together with:
Non-allelic
30
L304R
22
A467T
9
T251I
9
P587L
4
A143V
4
G737R
4
W748S
4
E1143G
4
R1081P
4
G888D
%
Also:
Y282D (4%)
Show Patient Data
The following information is based on PON-P2 mutation pathogenicity prediction software results.
Cluster 3 mutation with a non-cluster-mapping mutation (SNP) Y282D
PON-P2 predictions results for Y282D
Pathogenicity:Pathogenic
Probability:0.931
Standard Error:0.033
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 93.1%.

See further details for residue 282.

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.
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Allele 1:Allele 2:
Allelic information known
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Example input: A467T T914P
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