Sequence information
Variant position: 131 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:
SIVIHNLDYSDNGTFTCDVK
N PPDIVGKTSQVTLYVFEKVP
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 SIVIHNLDYSDNGTFTCDVKN PPDIVGKTSQVTLYVFEKVP
Mouse SIVIHNLDYSDNGTFTCDVKN PPDIVGKTSQVTLYVFEKVP
Rat SIVIHNLDYSDNGTFTCDVKN PPDIVGKTSQVTLYVFEKVP
Bovine SIVIHNLDYGDNGTFTCDVKN PPDIVGKTSQVTLYVFEKVP
Horse SIVIHNLDYSDNGTFTCDVKN PPDIVGKTSQVTLYVFEKVP
Chicken SIVIHNLDYTDNGTFTCDVKN PPDIVGKSSQVTLYVLEKVP
Xenopus laevis SIVVHNLELTDNGTFTCDVKN PPDVVGKSSYVHLQVQEKGP
Xenopus tropicalis SIVLHNLELIDNGTFTCDVKN PPDVVGKSSYVHLQVQEKGA
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.
Type Positions Description
Chain
30 – 248
Myelin protein P0
Topological domain
30 – 153
Extracellular
Domain
30 – 143
Ig-like V-type
Glycosylation
122 – 122
N-linked (GlcNAc...) (complex) asparagine
Beta strand
123 – 131
Literature citations
The Roussy-Levy family: from the original description to the gene.
Plante-Bordeneuve V.; Guiochon-Mantel A.; Lacroix C.; Lapresle J.; Said G.;
Ann. Neurol. 46:770-773(1999)
Cited for: VARIANT ROULS LYS-131;
Disclaimer:
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.