Variant position: 163 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 TLYVFEKVPTRYGVVLGAVI GGVLGVVLLLLLLFYVVRYCW
Mouse TLYVFEKVPTRYGVVLGAVI GGILGVVLLLLLLFYLIRYCW
Rat TLYVFEKVPTRYGVVLGAVI GGILGVVLLLLLLFYLIRYCW
Bovine TLYVFEKVPTRYGVVLGAVI GGVLGVVLLALLLFYLIRYCW
Horse TLYVFEKVPTRYGVVLGAVI GGVLGVVLLVLLLFYVVRYCW
Chicken TLYVLEKVPTRYGVVLGSII GGVLLLVALLVAVVYLVRFCW
Xenopus laevis HLQVQEKGPARAGLILGIII AVALALVIVVTILILLIRYCW
Xenopus tropicalis HLQVQEKGAARAGLVLGIII AVALALVIVVTILILLIRYCW
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
154 – 179 Helical
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
Numakura C.; Lin C.; Ikegami T.; Guldberg P.; Hayasaka K.;
Hum. Mutat. 20:392-398(2002)
Cited for: VARIANTS CMT1B SER-63 DEL; ILE-65; CYS-68; CYS-82; MET-124; ARG-163 AND ARG-170; VARIANTS CMT2 VAL-75 AND ILE-113;
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
Street V.A.; Meekins G.; Lipe H.P.; Seltzer W.K.; Carter G.T.; Kraft G.H.; Bird T.D.;
Neuromuscul. Disord. 12:643-650(2002)
Cited for: VARIANTS CMT1B THR-140; ARG-163 AND LYS-236 DEL;
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.