Variant position: 268 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 543 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 DV-TKPDLSAALKDIRAQYEK LAAKNMQNAEEWFKSRFTVLT
Mouse DVSSKPDLSAALKDIRAQYEK LAAKNMQNAEEWFKSRFTVL
Rat DVSSKPDLSAALKDIRAQYEK LAAKNMQNAEEWFKSRFTVL
Pig DVSSKPDLSAALKDIRAQYEK LAAKNMQNAEEWFKSRFTVL
Bovine DVSSKPDLSAALKDIRAQYEK LAAKNMQNAEEWFKSRFTVL
Xenopus laevis EV-AKPDLSSALRDIRGQYEK LAAKNMQSAEEWFKSRFTVL
Xenopus tropicalis EV-AKPDLSSALRDIRAQYEK LAAKNMQSAEDWFKSRFTVL
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.
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
Fabrizi G.M.; Cavallaro T.; Angiari C.; Cabrini I.; Taioli F.; Malerba G.; Bertolasi L.; Rizzuto N.;
Cited for: VARIANTS MET-213 AND ASN-468; VARIANTS CMT2E SER-22; PRO-268 AND 322-CYS--ASN-326 DEL; VARIANT CMTDIG LYS-396;
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
Drew A.P.; Zhu D.; Kidambi A.; Ly C.; Tey S.; Brewer M.H.; Ahmad-Annuar A.; Nicholson G.A.; Kennerson M.L.;
Mol. Genet. Genomic Med. 3:143-154(2015)
Cited for: VARIANTS CMT2E CYS-265; PRO-268; PRO-336 AND LEU-440;
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.