Sequence information
Variant position: 276 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:
GENDHFDTYADALWWGLITL
T TIGYGDKYPQTWNGRLLAAT
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 GENDHFDTYADALWWGLITLT TIGYGDKYPQTWNGRLLAAT
Mouse GENDHFDTYADALWWGLITLT TIGYGDKYPQTWNGRLLAAT
Rat GENDHFDTYADALWWGLITLT TIGYGDKYPQTWNGRLLAAT
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
Intramembrane
265 – 285
Pore-forming; Name=Segment H5
Mutagenesis
279 – 279
G -> S. More than 50% reduction of wt heteromeric current. Ratio of 1:1 and 1:1:2.
Literature citations
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Martin H.C.; Kim G.E.; Pagnamenta A.T.; Murakami Y.; Carvill G.L.; Meyer E.; Copley R.R.; Rimmer A.; Barcia G.; Fleming M.R.; Kronengold J.; Brown M.R.; Hudspith K.A.; Broxholme J.; Kanapin A.; Cazier J.B.; Kinoshita T.; Nabbout R.; Bentley D.; McVean G.; Heavin S.; Zaiwalla Z.; McShane T.; Mefford H.C.; Shears D.; Stewart H.; Kurian M.A.; Scheffer I.E.; Blair E.; Donnelly P.; Kaczmarek L.K.; Taylor J.C.;
Hum. Mol. Genet. 23:3200-3211(2014)
Cited for: VARIANT DEE7 ILE-276;
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.