Variant position: 39 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 FSSLVLSPAQAIVVYTDREV HGAVGSRVTLHCSFWSSEWVS
Mouse FSSLVLSPALAIVVYTDREI YGAVGSQVTLHCSFWSSEWVS
Rat FSSLVLSPTLAIVVYTDREV YGAVGSQVTLHCSFWSSEWVS
Bovine FSSLVLSPVQAIVVYTDKEV HGAVGSQVTLYCSFWSSEWVS
Horse FSSLVLSPAQAIVVYTDKEV YGAVGSRVTLHCSFWSSEWVS
Chicken LSASGPSPTLAIHVYTPREV YGTVGSHVTLSCSFWSSEWIS
Xenopus laevis LSALVLTPTLAIEVYTDREV YGTAGSRVTLSCSFWSSEWIS
Xenopus tropicalis LSALVLPPTLAIEVYTDREV YGTVGSRVTLSCSFWSSEWIS
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.
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;
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
Grandis M.; Vigo T.; Passalacqua M.; Jain M.; Scazzola S.; La Padula V.; Brucal M.; Benvenuto F.; Nobbio L.; Cadoni A.; Mancardi G.L.; Kamholz J.; Shy M.E.; Schenone A.;
Hum. Mol. Genet. 17:1877-1889(2008)
Cited for: CHARACTERIZATION OF VARIANTS CMT1B 51-SER--TRP-57 DEL; PRO-39; ARG-81 AND MET-124; FUNCTION; SUBCELLULAR LOCATION;
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.