UniProtKB/Swiss-Prot P54098: Variant p.Gln1236His

DNA polymerase subunit gamma-1
Gene: POLG
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Variant information Variant position:

1236 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Glutamine (Q) to Histidine (H) at position 1236 (Q1236H, p.Gln1236His). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Similar physico-chemical property. Both residues are medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

The poly-Gln region seems to be polymorphic. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs3087374 [ dbSNP | Ensembl ]

Sequence information Variant position:

1236 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1239 The length of the canonical sequence.
Location on the sequence:

EALDIYQIIELTKGSLEKRS Q PGP The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         EALDIYQIIELTKGS-------LEKRSQPGP

Mouse                         EALDIYQIIELTKGS-------LE

Rat                           EALDIYQIIELTKGS-------LE

Xenopus laevis                EALDIYQILKVTKGV-------L-

Drosophila                    QSLSVAEAIEKAGGNDVSQWDWIK

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 1239	DNA polymerase subunit gamma-1

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-55 INS; GLN-193; CYS-546; LYS-662; TRP-1142; GLY-1143; CYS-1146 AND HIS-1236; Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
Filosto M.; Mancuso M.; Nishigaki Y.; Pancrudo J.; Harati Y.; Gooch C.; Mankodi A.; Bayne L.; Bonilla E.; Shanske S.; Hirano M.; DiMauro S.;
Arch. Neurol. 60:1279-1284(2003)
Cited for: VARIANTS PEOB1 TRP-579; LEU-587; THR-889 AND VAL-1076; VARIANT HIS-1236; POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
Di Fonzo A.; Bordoni A.; Crimi M.; Sara G.; Del Bo R.; Bresolin N.; Comi G.P.;
Hum. Mutat. 22:498-499(2003)
Cited for: VARIANTS PEOB1 ILE-251; ALA-268; ARG-312; THR-467; GLN-562; LEU-587; PRO-807 AND TYR-932; VARIANTS GLY-1143 AND HIS-1236; Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
Luoma P.T.; Luo N.; Loescher W.N.; Farr C.L.; Horvath R.; Wanschitz J.; Kiechl S.; Kaguni L.S.; Suomalainen A.;
Hum. Mol. Genet. 14:1907-1920(2005)
Cited for: VARIANT PEOB1 THR-467; VARIANT SANDO GLN-627; VARIANT HIS-1236; CHARACTERIZATION OF VARIANT PEOB1 THR-467; CHARACTERIZATION OF VARIANT SANDO GLN-627; FUNCTION; CATALYTIC ACTIVITY; Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
Naiemi M.; Bannwarth S.; Procaccio V.; Pouget J.; Desnuelle C.; Pellissier J.-F.; Roetig A.; Munnich A.; Calvas P.; Richelme C.; Jonveaux P.; Castelnovo G.; Simon M.; Clanet M.; Wallace D.; Paquis-Flucklinger V.;
Eur. J. Hum. Genet. 14:917-922(2006)
Cited for: VARIANTS PEOB1 ARG-304; ASP-380 AND THR-467; VARIANT SANDO SER-748; VARIANT MTDPS4A PRO-914; VARIANTS GLY-1143 AND HIS-1236; Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
Taanman J.-W.; Rahman S.; Pagnamenta A.T.; Morris A.A.M.; Bitner-Glindzicz M.; Wolf N.I.; Leonard J.V.; Clayton P.T.; Schapira A.H.V.;
Hum. Mutat. 30:248-254(2009)
Cited for: VARIANTS LS HIS-232 AND SER-848; VARIANTS MTDPS4A ILE-251; THR-467; LEU-587; SER-748; CYS-831; SER-848; PRO-914; TYR-1110; ARG-1134 AND LYS-1136; VARIANTS GLY-1143 AND HIS-1236;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.