Variant position: 68 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 LHCSFWSSEWVSDDISFTWR YQPEGGRDAISIFHYAKGQPY
Mouse LHCSFWSSEWVSDDISFTWR YQPEGGRDAISIFHYAKGQPY
Rat LHCSFWSSEWVSDDISFTWR YQPEGGRDAISIFHYAKGQPY
Bovine LYCSFWSSEWVSDDLSFTWR YQPEGGRDAISIFHYAKGQPY
Horse LHCSFWSSEWVSDDISFTWR YQPEGGRDAISIFHYAKGQPY
Chicken LSCSFWSSEWISEDISYTWH FQAEGSRDSISIFHYGKGQPY
Xenopus laevis LSCSFWSSEWISDDISVTWH YQPDHSREMYSIVHFAKGLSS
Xenopus tropicalis LSCSFWSSEWISDDVSVTWH YQPDHSREMYSIFHYAKGQPS
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.
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
Sorour E.; Upadhyaya M.;
Hum. Mutat. Suppl. 1:S242-S247(1998)
Cited for: VARIANTS CMT1B PHE-58; CYS-68; THR-112; LEU-132 AND ALA-167;
Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
Yoshihara T.; Yamamoto M.; Doyu M.; Misu K.; Hattori N.; Hasegawa Y.; Mokuno K.; Mitsuma T.; Sobue G.;
Hum. Mutat. 16:177-178(2000)
Cited for: VARIANTS CMT PHE-32; CYS-68; MET-124 AND ARG-130;
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;
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;
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