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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P54098: Variant p.Val1106Ile

DNA polymerase subunit gamma-1
Gene: POLG
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Variant information Variant position: help 1106 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 Valine (V) to Isoleucine (I) at position 1106 (V1106I, p.Val1106Ile). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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. Any additional useful information about the variant.


Sequence information Variant position: help 1106 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 SAVQEEFMTSRVNWVVQSSA V DYLHLMLVAMKWLFEEFAID 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                         SAVQEE---FMTSRVNWVVQSSAVDYLHLMLVAMKWLFEEFAID

Mouse                         SVVQGE---FITSRVNWVVQSSAVDYLHLMLVAMKWLFEEF

Rat                           SVVQGE---FMTSRVNWVVQSSAVDYLHLMLVAMKWLFEEF

Xenopus laevis                TAVKGE---FITSRVNWVVQSSAVDYLHLMLVAMKWLFEAY

Drosophila                    DTGPEQEQRFLPTRINWVVQSGAVDFLHLMLVSMRWLMGSH
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
Binding site 1094 – 1094
Binding site 1095 – 1095
Site 1102 – 1102 Critical for replication fidelity and mismatch recognition
Helix 1093 – 1122



Literature citations
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;
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.