Variant position: 62 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 VGSRVTLHCSFWSSEWVSDD ISFTWRYQPEGGRDAISIFHY
Mouse VGSQVTLHCSFWSSEWVSDD ISFTWRYQPEGGRDAISIFHY
Rat VGSQVTLHCSFWSSEWVSDD ISFTWRYQPEGGRDAISIFHY
Bovine VGSQVTLYCSFWSSEWVSDD LSFTWRYQPEGGRDAISIFHY
Horse VGSRVTLHCSFWSSEWVSDD ISFTWRYQPEGGRDAISIFHY
Chicken VGSHVTLSCSFWSSEWISED ISYTWHFQAEGSRDSISIFHY
Xenopus laevis AGSRVTLSCSFWSSEWISDD ISVTWHYQPDHSREMYSIVHF
Xenopus tropicalis VGSRVTLSCSFWSSEWISDD VSVTWHYQPDHSREMYSIFHY
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.
A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.
Nakagawa M.; Suehara M.; Saito A.; Takashima H.; Umehara F.; Saito M.; Kanzato N.; Matsuzaki T.; Takenaga S.; Sakoda S.; Izumo S.; Osame M.;
Cited for: VARIANT CMT1B PHE-62;
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.