Variant position: 220 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1030 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 ILGELSDGQPLFPGESEIDQ LFTIQKVLGPLPSEQMKLFYS
Mouse ILGELSDGQPLFPGESEIDQ LFTIQKVLGPLPSEQMKLFYS
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.
Key clinical features to identify girls with CDKL5 mutations.
Bahi-Buisson N.; Nectoux J.; Rosas-Vargas H.; Milh M.; Boddaert N.; Girard B.; Cances C.; Ville D.; Afenjar A.; Rio M.; Heron D.; N'guyen Morel M.A.; Arzimanoglou A.; Philippe C.; Jonveaux P.; Chelly J.; Bienvenu T.;
Cited for: VARIANTS EIEE2 VAL-40; PRO-220 AND MET-718;
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.
Rosas-Vargas H.; Bahi-Buisson N.; Philippe C.; Nectoux J.; Girard B.; N'Guyen Morel M.A.; Gitiaux C.; Lazaro L.; Odent S.; Jonveaux P.; Chelly J.; Bienvenu T.;
J. Med. Genet. 45:172-178(2008)
Cited for: VARIANTS EIEE2 VAL-40 AND PRO-220; CHARACTERIZATION OF VARIANTS EIEE2 VAL-40 AND PRO-220;
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.