Variant position: 51 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 VVYTDREVHGAVGSRVTLHC SFWSSEWVSDDISFTWRYQPE
Mouse VVYTDREIYGAVGSQVTLHC SFWSSEWVSDDISFTWRYQPE
Rat VVYTDREVYGAVGSQVTLHC SFWSSEWVSDDISFTWRYQPE
Bovine VVYTDKEVHGAVGSQVTLYC SFWSSEWVSDDLSFTWRYQPE
Horse VVYTDKEVYGAVGSRVTLHC SFWSSEWVSDDISFTWRYQPE
Chicken HVYTPREVYGTVGSHVTLSC SFWSSEWISEDISYTWHFQAE
Xenopus laevis EVYTDREVYGTAGSRVTLSC SFWSSEWISDDISVTWHYQPD
Xenopus tropicalis EVYTDREVYGTVGSRVTLSC SFWSSEWISDDVSVTWHYQPD
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.
Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.
Young P.; Grote K.; Kuhlenbaeumer G.; Debus O.; Kurlemann H.; Halfter H.; Funke H.; Ringelstein E.B.; Stoegbauer F.;
J. Neurol. 248:410-415(2001)
Cited for: VARIANTS CMT1B PHE-51; LEU-78 AND HIS-98;
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