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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P54098: Variant p.Gly517Val

DNA polymerase subunit gamma-1
Gene: POLG
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Variant information Variant position: help 517 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 Glycine (G) to Valine (V) at position 517 (G517V, p.Gly517Val). 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 glycine (G) to medium size and hydrophobic (V) 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 SANDO. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 517 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 QKKAKKVKKEPATASKLPIE G AGAPGDPMDQEDLGPCSEEE 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                         QKKAKKVKKEPATASKLPIEGAGAPGDPM---DQEDLGPCSEEE

Mouse                         QKKAKKVKK-PASASKLPIEGAGPFGDPM---DQEDPGPPS

Rat                           QKKAKKVKK-TASASKLPIEGAGPFGDPM---DQEDPGPPS

Xenopus laevis                QKKTKISKK-----QKKANEAAESVGNKLVEDHNEDPGPPT

Drosophila                    LKQPPKRK-------------------PLPTVELKDSGNTP
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
Region 506 – 531 Disordered
Region 510 – 571 Accessory-interacting determinant
Mutagenesis 498 – 498 K -> C. Decreases processive DNA synthesis.
Mutagenesis 499 – 499 K -> C. Decreases processive DNA synthesis.
Mutagenesis 501 – 501 K -> C. Decreases processive DNA synthesis.



Literature citations
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R.; Hudson G.; Ferrari G.; Fuetterer N.; Ahola S.; Lamantea E.; Prokisch H.; Lochmueller H.; McFarland R.; Ramesh V.; Klopstock T.; Freisinger P.; Salvi F.; Mayr J.A.; Santer R.; Tesarova M.; Zeman J.; Udd B.; Taylor R.W.; Turnbull D.; Hanna M.; Fialho D.; Suomalainen A.; Zeviani M.; Chinnery P.F.;
Brain 129:1674-1684(2006)
Cited for: VARIANTS PEOB1 HIS-308; TRP-574 AND ARG-648; VARIANT SANDO VAL-517; VARIANTS MTDPS4A ASP-767; HIS-879; SER-885; PRO-914; HIS-1096 AND ASN-1191;
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.