Sequence information
Variant position: 217 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:
LRSLRFLQILRMIRMDRRGG
T WKLLGSVVYAHSKELVTAWY
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 LRSLRFLQILRMIRMDRRGGT WKLLGSVVYAHSKELVTAWY
Mouse LRSLRFLQILRMIRMDRRGGT WKLLGSVVYAHSKELVTAWY
Rat LRSLRFLQILRMIRMDRRGGT WKLLGSVVYAHSKELVTAWY
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
Chain
1 – 872
Potassium voltage-gated channel subfamily KQT member 2
Transmembrane
196 – 218
Helical; Voltage-sensor; Name=Segment S4
Modified residue
217 – 217
Phosphothreonine
Mutagenesis
217 – 217
T -> A. No effect on current or expression.
Mutagenesis
217 – 217
T -> D. Abolishes currents without reducing channel protein expression.
Literature citations
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
Zara F.; Specchio N.; Striano P.; Robbiano A.; Gennaro E.; Paravidino R.; Vanni N.; Beccaria F.; Capovilla G.; Bianchi A.; Caffi L.; Cardilli V.; Darra F.; Bernardina B.D.; Fusco L.; Gaggero R.; Giordano L.; Guerrini R.; Incorpora G.; Mastrangelo M.; Spaccini L.; Laverda A.M.; Vecchi M.; Vanadia F.; Veggiotti P.; Viri M.; Occhi G.; Budetta M.; Taglialatela M.; Coviello D.A.; Vigevano F.; Minetti C.;
Epilepsia 54:425-436(2013)
Cited for: VARIANTS BFNS1 ASP-154; GLU-159; VAL-196; 448-ARG--LYS-872 DEL AND TRP-547; VARIANT ALA-217;
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.