Variant position: 909 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 MFRLFPSLSITTELTHPSNM RFMQFRAKDSYSLALSKLEKR
Mouse MFRLFPSLSITTELTHPSNM RFMQFRAKDSYSLALSKLEKQ
Rat MFRLFPSLSITTELTHPSNM RFMQFRAKDSYSLALSKLEKQ
Chicken MFRLFPSLSIITELTHPSNM RFMQFRAKDSYSLALSKLEKK
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
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
Heron S.E.; Smith K.R.; Bahlo M.; Nobili L.; Kahana E.; Licchetta L.; Oliver K.L.; Mazarib A.; Afawi Z.; Korczyn A.; Plazzi G.; Petrou S.; Berkovic S.F.; Scheffer I.E.; Dibbens L.M.;
Nat. Genet. 44:1188-1190(2012)
Cited for: VARIANTS ENFL5 GLN-379; HIS-777; ILE-877 AND CYS-909;
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