Variant position: 145 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 FTCDVKNPPDIVGKTSQVTL YVFEKVPTRYGVVLGAVIGGV
Mouse FTCDVKNPPDIVGKTSQVTL YVFEKVPTRYGVVLGAVIGGI
Rat FTCDVKNPPDIVGKTSQVTL YVFEKVPTRYGVVLGAVIGGI
Bovine FTCDVKNPPDIVGKTSQVTL YVFEKVPTRYGVVLGAVIGGV
Horse FTCDVKNPPDIVGKTSQVTL YVFEKVPTRYGVVLGAVIGGV
Chicken FTCDVKNPPDIVGKSSQVTL YVLEKVPTRYGVVLGSIIGGV
Xenopus laevis FTCDVKNPPDVVGKSSYVHL QVQEKGPARAGLILGIIIAVA
Xenopus tropicalis FTCDVKNPPDVVGKSSYVHL QVQEKGAARAGLVLGIIIAVA
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.
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
Leal A.; Berghoff C.; Berghoff M.; Del Valle G.; Contreras C.; Montoya O.; Hernandez E.; Barrantes R.; Schloetzer-Schrehardt U.; Neundoerfer B.; Reis A.; Rautenstrauss B.; Heuss D.;
Cited for: VARIANT CMT1B SER-145;
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