Variant position: 84 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 226 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 CYDHYFPISHIRLWALQLIF VSTPALLVAMHVAYRRHEKKR
Gorilla CYDHYFPISHIRLWALQLIF VSTPALLVAMHVAYRRHEKKR
Rhesus macaque CYDHYFPISHIRLWALQLIF VSTPALLVAMHVAYRRHEKKR
Mouse CYDHHFPISHIRLWALQLIM VSTPALLVAMHVAYRRHEKKR
Rat CYDHYFPISHIRLWALQLIM VSTPALLVAMHVAYRRHEKKR
Bovine CYDHYFPISHIRLWALQLIF VSTPALLVAMHVAYYRHEKKR
Sheep CYDHYFPISHIRLWALQLIF VSTPALLVAMHVAYYRHEKKR
Sequence annotation in neighborhood: 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.
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley P.M.; Harris D.J.; Comer B.C.; Askew J.W.; Fowler T.; Smith S.D.; Kimberling W.J.;
Am. J. Hum. Genet. 62:792-799(1998)
Cited for: VARIANTS DFNB1A LEU-84; MET-95 AND ARG-113; VARIANTS ILE-27 AND ILE-37;
Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness.
Beltramello M.; Piazza V.; Bukauskas F.F.; Pozzan T.; Mammano F.;
Nat. Cell Biol. 7:63-69(2005)
Cited for: CHARACTERIZATION OF VARIANT DFNB1A LEU-84;
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