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Putatively-dominant POLG mutations

This list includes all the mutations that are found as a single cluster-mapping mutation on a patient in the database.

Heterozygous mutations have been categorized into three groups (recessive, unclear & putatively-dominant) based on available evidence. Mutations found in heterozygous patient cases without any other explanatory factors or further evidence for the condition of the patients are categorized as having "unclear" dominant pathogenicity. Mutations in which the case report indicated they are likely not the root cause for the condition of the patient have been categorized in the "recessive" group. In the analysis, biochemical data and reported asymptomatic carriers have also been taken into account when assigning mutations into the three groups.

For more information on how the mutations have been analysed, please see the references page.

Heterozygous POLG mutations
Mutation Assesment of
dominance
Cluster
assignment
Reported ht.zyg.
cases
Reported total
cases
D136Erecessive Cluster 111
A143Vrecessive Cluster 118
R232Hunclear Cluster 438
L304Rrecessive Cluster 3423
S305Rrecessive Cluster 316
R309Lrecessive Cluster 312
R309Cunclear Cluster 313
W312Rrecessive Cluster 314
S433Crecessive Cluster 111
A467Tunclear Cluster 28236
S511Nunclear Cluster 256
K512Munclear Cluster 211
G517Vrecessive Cluster 2912
P587Lrecessive Cluster 2753
K601Eunclear Cluster 222
R617Crecessive Cluster 211
R627Qunclear Cluster 5214
W748Sunclear Cluster 55181
P765Tdominant Cluster 211
G848Srecessive Cluster 1166
T851Aunclear Cluster 114
R852Cunclear Cluster 1115
V855Arecessive Cluster 111
A889Tdominant Cluster 123
D890Adominant Cluster 111
E895Gdominant Cluster 111
T914Arecessive Cluster 111
H932Ydominant Cluster 114
R943Hdominant Cluster 133
H945Ldominant Cluster 111
Y951Ndominant Cluster 122
R953Cunclear Cluster 114
Y955Cdominant Cluster 13940
F961Sdominant Cluster 111
R1047Qunclear Cluster 311
P1073Lrecessive Cluster 317
G1076Vunclear Cluster 311
I1079Lunclear Cluster 311
S1080Trecessive Cluster 311
S1080Irecessive Cluster 322
R1081Qunclear Cluster 312
S1095Runclear Cluster 313
R1096Crecessive Cluster 3115
S1104Cunclear Cluster 114
A1105Tunclear Cluster 114
H1134Rrecessive Cluster 111
D1184Hunclear Cluster 111
D1184Nunclear Cluster 128
R1187Wrecessive Cluster 122
Putatively non-pathogenic SNPs

List of mutations that are reported as SNPs in the database; this list may not be complete. For more information on how the mutations have been analysed, please see the references page.

Putatively non-pathogenic SNPs
Mutation Cluster
assignment
G11D
P18S
S64L
H110Y
W113G
R193Q
T251I
P324S
G380D
L392V
G517VCluster 2
R546C
H659Q
E662K
Q666L
R722H
H734R
N740DCluster 5
Y831S
Y831C
Y831F
S998W
V1044A
F1092LCluster 3
R1142W
E1143G
R1146C
F1164LCluster 1
F1164ICluster 1
G1205A
S1230F
Q1236H
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