Variant position: 103 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 AKGQPYIDEVGTFKERIQWV GDPRWKDGSIVIHNLDYSDNG
Mouse AKGQPYIDEVGAFKERIQWV GDPRWKDGSIVIHNLDYSDNG
Rat AKGQPYIDEVGTFKERIQWV GDPSWKDGSIVIHNLDYSDNG
Bovine AKGQPYIDEVGTFKERIQWV GDPHRKDGSIVIHNLDYGDNG
Horse AKGQPYIDEVGTFKERIQWV GDPQWKDGSIVIHNLDYSDNG
Chicken GKGQPYIDDVGSFKERMEWV GNPRRKDGSIVIHNLDYTDNG
Xenopus laevis AKGLSSID-AGIFKDRIEWV GSPKWKDASIVVHNLELTDNG
Xenopus tropicalis AKGQPSID-AGVFKDRIEWV GSPKWKDASIVLHNLELIDNG
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
30 – 248 Myelin protein P0
30 – 153 Extracellular
30 – 143 Ig-like V-type
122 – 122 N-linked (GlcNAc...) (complex) asparagine
50 – 127
A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.
Fabrizi G.M.; Ferrarini M.; Cavallaro T.; Jarre L.; Polo A.; Rizzuto N.;
Cited for: VARIANT CMT1B GLU-103;
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