Variant position: 718 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 KENRHLYNDPVPRRVGSFYR VPSPRPDNSFHENNVSTRVSS
Mouse KENRHLYNDPVPRRVGSFYR VPSPRPDNSFHENNVSTRVSS
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.
Type Positions Description
1 – 1030 Cyclin-dependent kinase-like 5
720 – 720 Phosphoserine
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;
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N.; McTague A.; Brittain H.; Papandreou A.; Meyer E.; Ngoh A.; Palmer R.; Morrogh D.; Boustred C.; Hurst J.A.; Jenkins L.; Kurian M.A.; Scott R.H.;
J. Med. Genet. 53:310-317(2016)
Cited for: VARIANTS EIEE2 TRP-178; MET-718 AND 726-SER--LYS-1030 DEL;
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