Variant position: 236 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 TPVLYAMLDHSRSTKAVSEK KAKG-LGESRKDKK
Mouse TPVLYAMLDHSRSTKAASEK KSKG-LGESRKDK
Rat TPVLYAMLDHSRSTKAASEK KSKG-LGESRKDK
Bovine TPVLYAMLDHSRSTKAASEK KTKG-LGESRKDK
Horse TPVLYAMLDHSRSTKAASEK KAKG-LGESRKDK
Chicken PPVLYAMLDHSRSAKAAAEK KSKGAPGEARKDK
Xenopus laevis TPILYAMLDQTRGK--SSEK KAKGGIGDSRKDR
Xenopus tropicalis TPILYAMLDQTRGK--ASEK KGKGGIGDSRKDR
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
180 – 248 Cytoplasmic
224 – 248 Disordered
228 – 248 Basic and acidic residues
226 – 226 Phosphoserine
228 – 228 Phosphoserine
233 – 233 Phosphoserine; by PKC
243 – 243 Phosphoserine; by PKC
248 – 248 K -> KRLAGRAGDRGLGVESAKGPKVMVIEMELRKDEQSPELRPAVKSPSRTSLKNALKNMMGLNSDK. In isoform L-MPZ.
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
Choi B.-O.; Lee M.S.; Shin S.H.; Hwang J.H.; Choi K.-G.; Kim W.-K.; Sunwoo I.N.; Kim N.K.; Chung K.W.;
Hum. Mutat. 24:185-186(2004)
Cited for: VARIANTS CMT2I ASN-118 AND GLU-236;
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