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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P54098: Variant p.Arg227Trp

DNA polymerase subunit gamma-1
Gene: POLG
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Variant information Variant position: help 227 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 Tryptophan (W) at position 227 (R227W, p.Arg227Trp). 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 large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 PEOB1 and MTDPS4B. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 227 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 TCPTLAVAISPSAWYSWCSQ R LVEERYSWTSQLSPADLIPL 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                         TCPTLAVAISPSAWYSWCSQRLVEERYSWTSQLSPADLIPL

Mouse                         TCPTLAVAISPSAWYSWCSRRLVEERYSWTSQLSPADLIPL

Rat                           TCPTLAVAISPSAWYSWCSRRLVEERYSWTSQLSPADLIPL

Xenopus laevis                CCPTLAVAASPQNWYSWCSRRLIEGRYTWSKELLLSDLFPL

Drosophila                    QAPVLATAVSTKRWYSWVSSKLTKHR------LSVEKLEPL
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
Helix 226 – 229



Literature citations
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
Agostino A.; Valletta L.; Chinnery P.F.; Ferrari G.; Carrara F.; Taylor R.W.; Schaefer A.M.; Turnbull D.M.; Tiranti V.; Zeviani M.;
Neurology 60:1354-1356(2003)
Cited for: VARIANTS PEOB1 TRP-227; ILE-251; ARG-312; VAL-431; THR-467; GLN-1047; CYS-1096 AND CYS-1104; Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.
Lamantea E.; Zeviani M.;
Ann. Neurol. 56:454-455(2004)
Cited for: VARIANTS PEOB1 TRP-227; ILE-251; LEU-309; LEU-587; SER-848; ILE-1106 AND LEU-1176; Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.
Giordano C.; Powell H.; Leopizzi M.; de Curtis M.; Travaglini C.; Sebastiani M.; Gallo P.; Taylor R.W.; d'Amati G.;
Neurology 72:1103-1105(2009)
Cited for: VARIANTS MTDPS4B TRP-227 AND SER-848;
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.