Variant position: 243 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 ATSAIRGIRFLQILRMLHVD RQGGTWRLLGSVVFIHRQELI
Mouse ATSAIRGIRFLQILRMLHVD RQGGTWRLLGSVVFIHRQELI
Rat ATSAIRGIRFLQILRMLHVD RQGGTWRLLGSVVFIHRQELI
Pig ATSAIRGIRFLQILRMLHVD RQGGTWRLLGSVVFIHRQELI
Rabbit ATSAIRGIRFLQILRMLHVD RQGGTWRLLGSVVFIHRQELI
Xenopus laevis ATSAIRGIRFLQILRMLHVD RQGGTWRLLGSVVFIHRQELI
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
226 – 248 Helical; Voltage-sensor; Name=Segment S4
243 – 245
Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.
Mohammad-Panah R.; Demolombe S.; Neyroud N.; Guicheney P.; Kyndt F.; van den Hoff M.; Baro I.; Escande D.;
Am. J. Hum. Genet. 64:1015-1023(1999)
Cited for: VARIANT JLNS1 HIS-243;
Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.
Chouabe C.; Neyroud N.; Richard P.; Denjoy I.; Hainque B.; Romey G.; Drici M.-D.; Guicheney P.; Barhanin J.;
Cardiovasc. Res. 45:971-980(2000)
Cited for: VARIANTS LQT1 GLN-190; TRP-533 AND TRP-539; VARIANT JLNS1 HIS-243; CHARACTERIZATION OF VARIANTS LQT1 GLN-190; TRP-533 AND TRP-539; CHARACTERIZATION OF VARIANT JLNS1 HIS-243;
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.