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UniProtKB/Swiss-Prot Q5JUK3: Variant p.Gly269Ser

Potassium channel subfamily T member 1
Gene: KCNT1
Variant information

Variant position:  269
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Glycine (G) to Serine (S) at position 269 (G269S, p.Gly269Ser).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from glycine (G) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In DEE14.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   FNQVLILFCTLLCLVFTGTC  G IQHLERAGENLSLLTSFYFC
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                         FNQVLILFCTLLCLVFTGTCGIQHLERAGENLSLLTSFYFC

Mouse                         FNQVLILFCTLLCLVFTGTCGIQHLERAGGNLNLLTSFYFC

Rat                           FNQVLILFCTLLCLVFTGTCGIQHLERAGGNLNLLTSFYFC

Chicken                       FNQVLILICTLLCLVFTGTCGIQHLERAGEKLSLFKSFYFC

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.

TypePositionsDescription
Chain 1 – 1230 Potassium channel subfamily T member 1
Transmembrane 252 – 272 Helical; Name=Segment S5
Alternative sequence 266 – 266 G -> GGCR. In isoform 4.


Literature citations

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.;
Gene 531:467-471(2013)
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;

Disclaimer: 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.