Variant position: 100 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 SPKQRRSIIRDRGPMYDDPT LPEGWTRKLKQRKSGRSAGKY
Mouse SPKQRRSIIRDRGPMYDDPT LPEGWTRKLKQRKSGRSAGKY
Rat SPKQRRSIIRDRGPMYDDPT LPEGWTRKLKQRKSGRSAGKY
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;
Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.
Hammer S.; Dorrani N.; Hartiala J.; Stein S.; Schanen N.C.;
Am. J. Med. Genet. A 122:223-226(2003)
Cited for: VARIANT RTT VAL-100;
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.
Schanen C.; Houwink E.J.F.; Dorrani N.; Lane J.; Everett R.; Feng A.; Cantor R.M.; Percy A.;
Am. J. Med. Genet. A 126:129-140(2004)
Cited for: VARIANTS RTT ARG-100; VAL-100; TRP-106; CYS-133; ARG-152; ALA-158; MET-158; VAL-161; CYS-306 AND HIS-306;
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.