Variant position: 113 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 248 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 GTFKERIQWVGDPRWKDGSI VIHNLDYSDNGTFTCDVKNPP
Mouse GAFKERIQWVGDPRWKDGSI VIHNLDYSDNGTFTCDVKNPP
Rat GTFKERIQWVGDPSWKDGSI VIHNLDYSDNGTFTCDVKNPP
Bovine GTFKERIQWVGDPHRKDGSI VIHNLDYGDNGTFTCDVKNPP
Horse GTFKERIQWVGDPQWKDGSI VIHNLDYSDNGTFTCDVKNPP
Chicken GSFKERMEWVGNPRRKDGSI VIHNLDYTDNGTFTCDVKNPP
Xenopus laevis GIFKDRIEWVGSPKWKDASI VVHNLELTDNGTFTCDVKNPP
Xenopus tropicalis GVFKDRIEWVGSPKWKDASI VLHNLELIDNGTFTCDVKNPP
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.
Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation.
Bienfait H.M.E.; Baas F.; Gabreeels-Festen A.A.W.M.; Koelman J.H.T.M.; Langerhorst C.T.; de Visser M.;
Neuromuscul. Disord. 12:281-285(2002)
Cited for: VARIANTS CMT TYR-81 AND PHE-113;
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