Variant position: 637 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 872 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 PSMMGRLGKVEKQVLSMEKK LDFLVNIYMQRMGIPPTETEA
Mouse PSMMGRLGKVEKQVLSMEKK LDFLVSIYTQRMGIPPAETEA
Rat PSMMGRLGKVEKQVLSMEKK LDFLVSIYTQRMGIPPAETEA
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 – 872 Potassium voltage-gated channel subfamily KQT member 2
313 – 872 Cytoplasmic
394 – 872 Missing. In isoform 6.
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
Grinton B.E.; Heron S.E.; Pelekanos J.T.; Zuberi S.M.; Kivity S.; Afawi Z.; Williams T.C.; Casalaz D.M.; Yendle S.; Linder I.; Lev D.; Lerman-Sagie T.; Malone S.; Bassan H.; Goldberg-Stern H.; Stanley T.; Hayman M.; Calvert S.; Korczyn A.D.; Shevell M.; Scheffer I.E.; Mulley J.C.; Berkovic S.F.;
Cited for: VARIANTS BFNS1 ALA-114; ARG-159; 204-GLN--LYS-872 DEL; GLN-213; GLY-353; PHE-358; 448-ARG--LYS-872 DEL; VAL-578; 581-ARG--LYS-872 DEL; SER-588 AND ARG-637;
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.