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Mutation Query
Allele 1:R227W
Allele 2: P587L, T251I

Allelic information known

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251
227587
Residue R227
Cluster assignment:
Cluster 4
Cluster description:Distal accessory subunit interface
Subcluster:4A (residues 224-244)
Subcluster description:These mutations map to the exo domain along the distal accessory subunit interface.
POLG domain:Exonuclease domain
Residue T251
Cluster assignment:
SNP
Cluster description:Single Nucleotide Polymorphism
POLG domain:Exonuclease domain
Residue P587
Cluster assignment:
Cluster 2
Cluster description:Upstream DNA binding channel
Subcluster:2C (residues 561-617)
Subcluster description:Subcluster 2C contains motif 1, which in Pol I was shown to fold into a loop that binds DNA in the channel (Loh and Loeb, 2005). Motif 1, together with subcluster 2D, form the major face of the putative DNA binding channel.
POLG domain:Spacer domain
Mutation Information
R227W
Number of patients:

(with R227W)

7
Found together with:
Non-allelic
29
T251I
29
P587L
29
G848S
14
A467T
14
D1184N
14
S1176L
%
Show Patient Data
P587L
Number of patients:

(with P587L)

53
Found together with:
Non-allelic
9
T251I
9
P587L
9
G848S
8
R807P
6
W748S
6
A467T
6
PNF
4
R227W
4
R232G
4
H932Y
%
Also:
K1191R (4%) L304R (4%) D1184N (4%)
P116Q (4%) C224Y (2%) N864S (2%)
K1191N (2%) V1106I (2%) E1136K (2%)
M603L (2%) P648R (2%) N1157S (2%)
R853Q (2%) R869Q (2%) E1142G (2%)
R309L (2%)
Allelic
98
T251I
2
P589L
%

PNF=Putatively Non-Functional enzyme

Show Patient Data
T251I
Number of patients:

(with T251I)

53
Found together with:
Non-allelic
11
G848S
9
T251I
9
P587L
8
R807P
6
A467T
6
PNF
4
R227W
4
R232G
4
H932Y
4
K1191R
%
Also:
W748S (4%) L304R (4%) D1184N (4%)
P116Q (4%) C224Y (2%) N864S (2%)
K1191N (2%) V1106I (2%) E1136K (2%)
M603L (2%) P648R (2%) N1157S (2%)
R853Q (2%) R869Q (2%) E1142G (2%)
R309L (2%)
Allelic
98
P587L
%

PNF=Putatively Non-Functional enzyme

Show Patient Data
Database patient data suggest that T251I 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 existing patient data and pathogenic cluster assignment.

Pathogenicity information for a patient with mutation P587L and a cluster 4 mutation:
Age of onset information is extracted from a total of 5 patients and/ or patient families.
Age of onset
5-
3-
3
0
0
2
infantilechildhdjuvenileadult
60%0%0%40%
All mutations mapping within the pathogenic clusters are at high risk for pathogenicity. In general, a patient must have a pathogenic mutation in both of his/ her POLG genes to develop a POLG-related syndrome.
Symptoms described in patients with P587L-cluster4 mutations
Symptoms described in patients with cluster4-cluster2 mutations
Prediction results for T251I gene2, SNP (not considered for pathogenicity information)
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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