Variant position: 336 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 TLEIEACRGMNEALEKQLQE LEDKQNADISAMQDTINKLEN
Mouse TLEIEACRGMNEALEKQLQE LEDKQNADISAMQDTINKLEN
Rat TLEIEACRGMNEALEKQLQE LEDKQNADISAMQDTINKLEN
Pig TLEIEACRGMNEALEKQLQE LEDKQNADISAMQDTINKLEN
Bovine TLEIEACRGMNEALEKQLQE LEDKQNADISAMQDTINKLEN
Xenopus laevis GLEIEACRGVNEALQRQIQE LEDKQSGEIAGMQDAINKLEE
Xenopus tropicalis GLEIEACRGVNDALERQIQE LEEKQSGEIAGMQDAINKLEE
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.
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
Choi B.-O.; Lee M.S.; Shin S.H.; Hwang J.H.; Choi K.-G.; Kim W.-K.; Sunwoo I.N.; Kim N.K.; Chung K.W.;
Hum. Mutat. 24:185-186(2004)
Cited for: VARIANT CMT2E PRO-336; VARIANT CMT1F 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.