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UniProtKB/Swiss-Prot Q9UHN1: Variant p.Arg182Trp

DNA polymerase subunit gamma-2, mitochondrial
Gene: POLG2
Variant information

Variant position:  182
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Arginine (R) to Tryptophan (W) at position 182 (R182W, p.Arg182Trp).
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:  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:  -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:  In MTDPS16; decreased function in mitochondrial DNA replication; decreased protein stability; no effect on DNA binding.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  182
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  485
The length of the canonical sequence.

Location on the sequence:   LSKEQLVAFLENVLKTSGKL  R ENLLHGALEHYVNCLDLVNK
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         LSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNK

Mouse                         PSKEQLVAFLENLLKTSGKLRATLLHGALEHYVNCLDLVNR

Bovine                        LSKEQLVAFLENLLNTSGKLRENLLHGALEHYVSYLDLVNK

Xenopus laevis                LPRDQLVKWLEDPAGKLEFLRHELLYGALLEYVPSMELLNK

Drosophila                    PRKAKCPTLLKHQSTCSGPTSNSL-----------------



Literature citations

Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.
Hoff K.E.; DeBalsi K.L.; Sanchez-Quintero M.J.; Longley M.J.; Hirano M.; Naini A.B.; Copeland W.C.;
PLoS ONE 13:e0203198-e0203198(2018)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT MTDPS16 TRP-182;

Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
Varma H.; Faust P.L.; Iglesias A.D.; Lagana S.M.; Wou K.; Hirano M.; DiMauro S.; Mansukani M.M.; Hoff K.E.; Nagy P.L.; Copeland W.C.; Naini A.B.;
Eur. J. Med. Genet. 59:540-545(2016)
Cited for: VARIANT MTDPS16 TRP-182; INVOLVEMENT IN MTDPS16;

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.