Variant position: 110 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 DEVGTFKERIQWVGDPRWKD GSIVIHNLDYSDNGTFTCDVK
Mouse DEVGAFKERIQWVGDPRWKD GSIVIHNLDYSDNGTFTCDVK
Rat DEVGTFKERIQWVGDPSWKD GSIVIHNLDYSDNGTFTCDVK
Bovine DEVGTFKERIQWVGDPHRKD GSIVIHNLDYGDNGTFTCDVK
Horse DEVGTFKERIQWVGDPQWKD GSIVIHNLDYSDNGTFTCDVK
Chicken DDVGSFKERMEWVGNPRRKD GSIVIHNLDYTDNGTFTCDVK
Xenopus laevis D-AGIFKDRIEWVGSPKWKD ASIVVHNLELTDNGTFTCDVK
Xenopus tropicalis D-AGVFKDRIEWVGSPKWKD ASIVLHNLELIDNGTFTCDVK
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
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
Huehne K.; Benes V.; Thiel C.; Kraus C.; Kress W.; Hoeltzenbein M.; Ploner C.J.; Kotzian J.; Reis A.; Rott H.D.; Rautenstrauss B.W.;
Hum. Mutat. 21:100-100(2003)
Cited for: VARIANT CMT1B LEU-78; VARIANT DSS ASP-110;
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