Variant position: 133 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 486 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 SGRSAGKYDVYLINPQGKAF RSKVELIAYFEKVGDTSLDPN
Mouse SGRSAGKYDVYLINPQGKAF RSKVELIAYFEKVGDTSLDPN
Rat SGRSAGKYDVYLINPQGKAF RSKVELIAYFEKVGDTSLDPN
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.
Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.
Armstrong J.; Poo P.; Pineda M.; Aibar E.; Gean E.; Catala V.; Monros E.;
Ann. Neurol. 50:692-692(2001)
Cited for: VARIANT RTT HIS-133;
MeCP2 mutations in children with and without the phenotype of Rett syndrome.
Hoffbuhr K.; Devaney J.M.; LaFleur B.; Sirianni N.; Scacheri C.; Giron J.; Schuette J.; Innis J.; Marino M.; Philippart M.; Narayanan V.; Umansky R.; Kronn D.; Hoffman E.P.; Naidu S.;
Cited for: VARIANTS RTT TYR-97; TRP-106; HIS-133; CYS-133; ARG-152; MET-158; ARG-305; CYS-306 AND LEU-322; VARIANT MET-197;
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