Variant position: 101 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 HYAKGQPYIDEVGTFKERIQ WVGDPRWKDGSIVIHNLDYSD
Mouse HYAKGQPYIDEVGAFKERIQ WVGDPRWKDGSIVIHNLDYSD
Rat HYAKGQPYIDEVGTFKERIQ WVGDPSWKDGSIVIHNLDYSD
Bovine HYAKGQPYIDEVGTFKERIQ WVGDPHRKDGSIVIHNLDYGD
Horse HYAKGQPYIDEVGTFKERIQ WVGDPQWKDGSIVIHNLDYSD
Chicken HYGKGQPYIDDVGSFKERME WVGNPRRKDGSIVIHNLDYTD
Xenopus laevis HFAKGLSSID-AGIFKDRIE WVGSPKWKDASIVVHNLELTD
Xenopus tropicalis HYAKGQPSID-AGVFKDRIE WVGSPKWKDASIVLHNLELID
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.
Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.
Latour P.; Blanquet F.; Nelis E.; Bonnebouche C.; Chapon F.; Diraison P.; Ollagnon E.; Dautigny A.; Pham-Dinh D.; Chazot G.; Boucherat M.; van Broeckhoven C.; Vandenberghe A.;
Hum. Mutat. 6:50-54(1995)
Cited for: VARIANTS CMT1B LEU-78 AND CYS-101;
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