Variant position: 81 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 DISFTWRYQPEGGRDAISIF HYAKGQPYIDEVGTFKERIQW
Mouse DISFTWRYQPEGGRDAISIF HYAKGQPYIDEVGAFKERIQW
Rat DISFTWRYQPEGGRDAISIF HYAKGQPYIDEVGTFKERIQW
Bovine DLSFTWRYQPEGGRDAISIF HYAKGQPYIDEVGTFKERIQW
Horse DISFTWRYQPEGGRDAISIF HYAKGQPYIDEVGTFKERIQW
Chicken DISYTWHFQAEGSRDSISIF HYGKGQPYIDDVGSFKERMEW
Xenopus laevis DISVTWHYQPDHSREMYSIV HFAKGLSSID-AGIFKDRIEW
Xenopus tropicalis DVSVTWHYQPDHSREMYSIF HYAKGQPSID-AGVFKDRIEW
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.
Novel mutation of the myelin P0 gene in a CMT1B family.
Sorour E.; Macmillan J.; Upadhyaya M.;
Hum. Mutat. 9:74-77(1997)
Cited for: VARIANT CMT1B ARG-81;
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;
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.