Variant position: 227 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 KDASKRGRQTPVLYAMLDHS RSTKAVSEKKAKG-LGESRKDK
Mouse KDSSKRGRQTPVLYAMLDHS RSTKAASEKKSKG-LGESRKD
Rat KDSSKRGRQTPVLYAMLDHS RSTKAASEKKSKG-LGESRKD
Bovine KDASKRGRQTPVLYAMLDHS RSTKAASEKKTKG-LGESRKD
Horse KDTSKRGRQTPVLYAMLDHS RSTKAASEKKAKG-LGESRKD
Chicken KDASKRSRQPPVLYAMLDHS RSAKAAAEKKSKGAPGEARKD
Xenopus laevis DSSKRSSRQTPILYAMLDQT RGK--SSEKKAKGGIGDSRKD
Xenopus tropicalis DSSKRSSRQTPILYAMLDQT RGK--ASEKKGKGGIGDSRKD
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
210 – 210 Phosphoserine; by PKC
226 – 226 Phosphoserine
228 – 228 Phosphoserine
233 – 233 Phosphoserine; by PKC
243 – 243 Phosphoserine; by PKC
Phenotypic clustering in MPZ mutations.
Shy M.E.; Jani A.; Krajewski K.; Grandis M.; Lewis R.A.; Li J.; Shy R.R.; Balsamo J.; Lilien J.; Garbern J.Y.; Kamholz J.;
Cited for: VARIANTS CMT1B PRO-39; PHE-44; CYS-50 DEL; HIS-98; CYS-123; ARG-130; THR-140 AND SER-227;
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