Variant position: 63 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 GSRVTLHCSFWSSEWVSDDI SFTWRYQPEGGRDAISIFHYA
Mouse GSQVTLHCSFWSSEWVSDDI SFTWRYQPEGGRDAISIFHYA
Rat GSQVTLHCSFWSSEWVSDDI SFTWRYQPEGGRDAISIFHYA
Bovine GSQVTLYCSFWSSEWVSDDL SFTWRYQPEGGRDAISIFHYA
Horse GSRVTLHCSFWSSEWVSDDI SFTWRYQPEGGRDAISIFHYA
Chicken GSHVTLSCSFWSSEWISEDI SYTWHFQAEGSRDSISIFHYG
Xenopus laevis GSRVTLSCSFWSSEWISDDI SVTWHYQPDHSREMYSIVHFA
Xenopus tropicalis GSRVTLSCSFWSSEWISDDV SVTWHYQPDHSREMYSIFHYA
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 type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene.
Blanquet-Grossard F.; Pham-Dinh D.; Dautigny A.; Latour P.; Bonnebouche C.; Corbillon E.; Chazot G.; Vandenberghe A.;
Clin. Genet. 48:281-283(1995)
Cited for: VARIANT CMT1B PHE-63;
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families.
Mostacciuolo M.L.; Righetti E.; Zortea M.; Bosello V.; Schiavon F.; Vallo L.; Merlini L.; Siciliano G.; Fabrizi G.M.; Rizzuto N.; Milani M.; Baratta S.; Taroni F.;
Hum. Mutat. 18:32-41(2001)
Cited for: VARIANTS CMT1B PHE-63 AND MET-124; VARIANTS DSS CYS-98 AND 124-THR-PHE-125 DEL;
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.