Variant position: 35 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 AVLLFSSLVLSPAQAIVVYT DREVHGAVGSRVTLHCSFWSS
Mouse AALLFSSLVLSPALAIVVYT DREIYGAVGSQVTLHCSFWSS
Rat AALLFSSLVLSPTLAIVVYT DREVYGAVGSQVTLHCSFWSS
Bovine AALLFSSLVLSPVQAIVVYT DKEVHGAVGSQVTLYCSFWSS
Horse AALLFSSLVLSPAQAIVVYT DKEVYGAVGSRVTLHCSFWSS
Chicken LVGLLSASGPSPTLAIHVYT PREVYGTVGSHVTLSCSFWSS
Xenopus laevis ALVLLSALVLTPTLAIEVYT DREVYGTAGSRVTLSCSFWSS
Xenopus tropicalis --VLLSALVLPPTLAIEVYT DREVYGTVGSRVTLSCSFWSS
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
Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.
Mastaglia F.L.; Nowak K.J.; Stell R.; Phillips B.A.; Edmondston J.E.; Dorosz S.M.; Wilton S.D.; Hallmayer J.; Kakulas B.A.; Laing N.G.;
J. Neurol. Neurosurg. Psych. 67:174-179(1999)
Cited for: VARIANT CMTDID TYR-35;
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
Hattori N.; Yamamoto M.; Yoshihara T.; Koike H.; Nakagawa M.; Yoshikawa H.; Ohnishi A.; Hayasaka K.; Onodera O.; Baba M.; Yasuda H.; Saito T.; Nakashima K.; Kira J.; Kaji R.; Oka N.; Sobue G.;
Cited for: VARIANTS CMT1B TYR-35; PHE-62; SER-63 DEL; CYS-68; GLU-93; CYS-98 AND PHE-146; VARIANTS CMT2I VAL-75; ARG-81; MET-124; ARG-130 AND ARG-167;
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