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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UHN1: Variant p.Gly451Glu

DNA polymerase subunit gamma-2
Gene: POLG2
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Variant information Variant position: help 451 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 Glutamate (E) at position 451 (G451E, p.Gly451Glu). 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 acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 PEOA4; affects stimulation of the catalytic subunit. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 451 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 485 The length of the canonical sequence.
Location on the sequence: help KYDEMSILFTVLVTETTLEN G LIHLRSRDTTMKEMMHISKL 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                         KYDEMSILFTVLVTETTLENGLIHLRSRDTTMKEMMHISKL

Mouse                         KYDEMSVLFSVLVTETTLENGLIQLRSRDTTMKEMMHISKL

Bovine                        KYDEMSILFTVLITEATLENGLIQLRSRDTTMKEMMHISKV

Xenopus laevis                KYDKMGVLFTVLVSESTLENGLLQVRSRDTTLKETIHVSKV

Drosophila                    ETDMLGIPYTLVINEQTLRNGLMQLRSRDTRLAETIHISDV


Literature citations
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.
Longley M.J.; Clark S.; Man C.Y.W.; Hudson G.; Durham S.E.; Taylor R.W.; Nightingale S.; Turnbull D.M.; Copeland W.C.; Chinnery P.F.;
Am. J. Hum. Genet. 78:1026-1034(2006)
Cited for: VARIANT PEOA4 GLU-451; CHARACTERIZATION OF VARIANT PEOA4 GLU-451;
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.