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:
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 LSKEQLVAFLENVLKTSGKL RENLLHGALEHYVNCLDLVNK
Mouse PSKEQLVAFLENLLKTSGKL RATLLHGALEHYVNCLDLVNR
Bovine LSKEQLVAFLENLLNTSGKL RENLLHGALEHYVSYLDLVNK
Xenopus laevis LPRDQLVKWLEDPAGKLEFL RHELLYGALLEYVPSMELLNK
Drosophila PRKAKCPTLLKHQSTCSGPT SNSL-----------------
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;
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