Variant position: 915 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1230 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 SLSITTELTHPSNMRFMQFR AKDSYSLALSKLEKRERENGS
Mouse SLSITTELTHPSNMRFMQFR AKDSYSLALSKLEKQERENGS
Rat SLSITTELTHPSNMRFMQFR AKDSYSLALSKLEKQERENGS
Chicken SLSIITELTHPSNMRFMQFR AKDSYSLALSKLEKKERENGS
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 – 1230 Potassium channel subfamily T member 1
326 – 1230 Cytoplasmic
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Barcia G.; Fleming M.R.; Deligniere A.; Gazula V.R.; Brown M.R.; Langouet M.; Chen H.; Kronengold J.; Abhyankar A.; Cilio R.; Nitschke P.; Kaminska A.; Boddaert N.; Casanova J.L.; Desguerre I.; Munnich A.; Dulac O.; Kaczmarek L.K.; Colleaux L.; Nabbout R.;
Nat. Genet. 44:1255-1259(2012)
Cited for: VARIANTS DEE14 GLN-409; HIS-455; MET-741 AND THR-915; CHARACTERIZATION OF VARIANTS DEE14 GLN-409 AND THR-915;
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 DEE14 SER-269; LYS-877 AND THR-915;
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.