Variant position: 106 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 SIIRDRGPMYDDPTLPEGWT RKLKQRKSGRSAGKYDVYLIN
Mouse SIIRDRGPMYDDPTLPEGWT RKLKQRKSGRSAGKYDVYLIN
Rat SIIRDRGPMYDDPTLPEGWT RKLKQRKSGRSAGKYDVYLIN
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.
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
Buyse I.M.; Fang P.; Hoon K.T.; Amir R.E.; Zoghbi H.Y.; Roa B.B.;
Am. J. Hum. Genet. 67:1428-1436(2000)
Cited for: VARIANTS RTT VAL-100; GLN-106; TRP-106; CYS-133; ARG-152; SER-155; MET-158; ARG-305; CYS-306 AND HIS-306; VARIANTS CYS-86; MET-203; PRO-287; ALA-291; LYS-397; ILE-412 AND THR-444;
MECP2 mutations account for most cases of typical forms of Rett syndrome.
Bienvenu T.; Carrie A.; de Roux N.; Vinet M.-C.; Jonveaux P.; Couvert P.; Villard L.; Arzimanoglou A.; Beldjord C.; Fontes M.; Tardieu M.; Chelly J.;
Hum. Mol. Genet. 9:1377-1384(2000)
Cited for: VARIANTS RTT GLN-106; MET-158; ARG-302; CYS-306 AND ALA-322;
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.