Variant position: 146 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 TCDVKNPPDIVGKTSQVTLY VFEKVPTRYGVVLGAVIGGVL
Mouse TCDVKNPPDIVGKTSQVTLY VFEKVPTRYGVVLGAVIGGIL
Rat TCDVKNPPDIVGKTSQVTLY VFEKVPTRYGVVLGAVIGGIL
Bovine TCDVKNPPDIVGKTSQVTLY VFEKVPTRYGVVLGAVIGGVL
Horse TCDVKNPPDIVGKTSQVTLY VFEKVPTRYGVVLGAVIGGVL
Chicken TCDVKNPPDIVGKSSQVTLY VLEKVPTRYGVVLGSIIGGVL
Xenopus laevis TCDVKNPPDVVGKSSYVHLQ VQEKGPARAGLILGIIIAVAL
Xenopus tropicalis TCDVKNPPDVVGKSSYVHLQ VQEKGAARAGLVLGIIIAVAL
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.
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
Hattori N.; Yamamoto M.; Yoshihara T.; Koike H.; Nakagawa M.; Yoshikawa H.; Ohnishi A.; Hayasaka K.; Onodera O.; Baba M.; Yasuda H.; Saito T.; Nakashima K.; Kira J.; Kaji R.; Oka N.; Sobue G.;
Cited for: VARIANTS CMT1B TYR-35; PHE-62; SER-63 DEL; CYS-68; GLU-93; CYS-98 AND PHE-146; VARIANTS CMT2I VAL-75; ARG-81; MET-124; ARG-130 AND ARG-167;
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.