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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P54098: Variant p.Arg232His

DNA polymerase subunit gamma-1
Gene: POLG
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Variant information Variant position: help 232 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Arginine (R) to Histidine (H) at position 232 (R232H, p.Arg232His). 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: help Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

Variant description: help In LS; displays markedly increased exonuclease activity and reduced polymerization activity; produces ligatable 5'-ends. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 232 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1239 The length of the canonical sequence.
Location on the sequence: help AVAISPSAWYSWCSQRLVEE R YSWTSQLSPADLIPLEVPTG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         AVAISPSAWYSWCSQRLVEERYSWTSQLSPADLIPLEVPTG

Mouse                         AVAISPSAWYSWCSRRLVEERYSWTSQLSPADLIPLGGSTS

Rat                           AVAISPSAWYSWCSRRLVEERYSWTSQLSPADLIPLGVSAS

Xenopus laevis                AVAASPQNWYSWCSRRLIEGRYTWSKELLLSDLFPLETSMN

Drosophila                    ATAVSTKRWYSWVSSKLTKHR------LSVEKLEPLDVDTD

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1239 DNA polymerase subunit gamma-1



Literature citations
The exonuclease activity of DNA polymerase gamma is required for ligation during mitochondrial DNA replication.
Macao B.; Uhler J.P.; Siibak T.; Zhu X.; Shi Y.; Sheng W.; Olsson M.; Stewart J.B.; Gustafsson C.M.; Falkenberg M.;
Nat. Commun. 6:7303-7303(2015)
Cited for: FUNCTION; CATALYTIC ACTIVITY; MUTAGENESIS OF ASP-274; CHARACTERIZATION OF VARIANT LS HIS-232; CHARACTERIZATION OF VARIANTS PEOB1 ALA-268 AND ARG-304; CHARACTERIZATION OF VARIANTS GLN-275; LEU-277; ARG-303 AND ARG-305; 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.