Variant position: 44 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 LSPAQAIVVYTDREVHGAVG SRVTLHCSFWSSEWVSDDISF
Mouse LSPALAIVVYTDREIYGAVG SQVTLHCSFWSSEWVSDDISF
Rat LSPTLAIVVYTDREVYGAVG SQVTLHCSFWSSEWVSDDISF
Bovine LSPVQAIVVYTDKEVHGAVG SQVTLYCSFWSSEWVSDDLSF
Horse LSPAQAIVVYTDKEVYGAVG SRVTLHCSFWSSEWVSDDISF
Chicken PSPTLAIHVYTPREVYGTVG SHVTLSCSFWSSEWISEDISY
Xenopus laevis LTPTLAIEVYTDREVYGTAG SRVTLSCSFWSSEWISDDISV
Xenopus tropicalis LPPTLAIEVYTDREVYGTVG SRVTLSCSFWSSEWISDDVSV
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
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.
Marrosu M.G.; Vaccargiu S.; Marrosu G.; Vannelli A.; Cianchetti C.; Muntoni F.;
Cited for: VARIANT CMT2I PHE-44;
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;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.