Variant position: 34 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 LAVLLFSSLVLSPAQAIVVY TDREVHGAVGSRVTLHCSFWS
Mouse LAALLFSSLVLSPALAIVVY TDREIYGAVGSQVTLHCSFWS
Rat LAALLFSSLVLSPTLAIVVY TDREVYGAVGSQVTLHCSFWS
Bovine LAALLFSSLVLSPVQAIVVY TDKEVHGAVGSQVTLYCSFWS
Horse LAALLFSSLVLSPAQAIVVY TDKEVYGAVGSRVTLHCSFWS
Chicken LLVGLLSASGPSPTLAIHVY TPREVYGTVGSHVTLSCSFWS
Xenopus laevis LALVLLSALVLTPTLAIEVY TDREVYGTAGSRVTLSCSFWS
Xenopus tropicalis L--VLLSALVLPPTLAIEVY TDREVYGTVGSRVTLSCSFWS
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
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.
Gabreeels-Festen A.A.W.M.; Hoogendijk J.E.; Meijerink P.H.; Gabreeels F.J.M.; Bolhuis P.A.; van Beersum S.; Kulkens T.; Nelis E.; Jennekens F.G.; de Visser M.; van Engelen B.G.; van Broeckhoven C.; Mariman E.C.;
Cited for: VARIANTS CMT1B/DSS ILE-34; CYS-98; HIS-98; ARG-130 AND LEU-135;
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