Variant position: 269 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 FNQVLILFCTLLCLVFTGTC GIQHLERAGENLSLLTSFYFC
Mouse FNQVLILFCTLLCLVFTGTC GIQHLERAGGNLNLLTSFYFC
Rat FNQVLILFCTLLCLVFTGTC GIQHLERAGGNLNLLTSFYFC
Chicken FNQVLILICTLLCLVFTGTC GIQHLERAGEKLSLFKSFYFC
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
252 – 272 Helical; Name=Segment S5
266 – 266 G -> GGCR. In isoform 4.
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.
Ishii A.; Shioda M.; Okumura A.; Kidokoro H.; Sakauchi M.; Shimada S.; Shimizu T.; Osawa M.; Hirose S.; Yamamoto T.;
Cited for: VARIANT DEE14 SER-269;
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;
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