Variant position: 317 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 676 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 GSYADALWWGVVTVTTIGYG DKVPQTWVGKTIASCFSVFAI
Mouse GSYADALWWGVVTVTTIGYG DKVPQTWVGKTIASCFSVFAI
Rat GSYADALWWGVVTVTTIGYG DKVPQTWVGKTIASCFSVFAI
Rabbit GSYADALWWGVVTVTTIGYG DKVPQTWVGKTIASCFSVFAI
Xenopus laevis GSYADALWWGVVTVTTIGYG DKVPQTWIGKTIASCFSVFAI
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 – 676 Potassium voltage-gated channel subfamily KQT member 1
300 – 320 Pore-forming; Name=Segment H5
312 – 317 Selectivity filter
324 – 324 V -> L. Has a voltage-gated potassium channel activity. Inhibition of voltage-gated potassium channel activity by KCNE4.
326 – 326 K -> R. Has a voltage-gated potassium channel activity. Disrupts KCNE4-mediated voltage-gated potassium channel activity inhibition.
327 – 327 T -> V. Has a voltage-gated potassium channel activity. Disrupts KCNE4-mediated voltage-gated potassium channel activity inhibition.
328 – 328 I -> L. Has a voltage-gated potassium channel activity. Inhibition of voltage-gated potassium channel activity by KCNE4.
316 – 318
Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.
Wollnik B.; Schroeder B.C.; Kubisch C.; Esperer H.D.; Wieacker P.; Jentsch T.J.;
Hum. Mol. Genet. 6:1943-1949(1997)
Cited for: VARIANT LQT1 ASN-317;
Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.
Saarinen K.; Swan H.; Kainulainen K.; Toivonen L.; Viitasalo M.; Kontula K.;
Hum. Mutat. 11:158-165(1998)
Cited for: VARIANTS LQT1 ILE-311 AND ASN-317;
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
Mousavi Nik A.; Gharaie S.; Jeong Kim H.;
Front. Cell. Neurosci. 9:32-32(2015)
Cited for: CHARACTERIZATION OF VARIANTS LQT1 ASN-242; PRO-243; HIS-250; VAL-306; ASN-317; ASP-586 AND MET-619; CHARACTERIZATION OF VARIANTS JLNS1 PHE-248; ILE-311; MET-322 AND ASP-589;
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.