Variant position: 248 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 RGIRFLQILRMLHVDRQGGT WRLLGSVVFIHRQELITTLYI
Mouse RGIRFLQILRMLHVDRQGGT WRLLGSVVFIHRQELITTLYI
Rat RGIRFLQILRMLHVDRQGGT WRLLGSVVFIHRQELITTLYI
Pig RGIRFLQILRMLHVDRQGGT WRLLGSVVFIHRQELITTLYI
Rabbit RGIRFLQILRMLHVDRQGGT WRLLGSVVFIHRQELITTLYI
Xenopus laevis RGIRFLQILRMLHVDRQGGT WRLLGSVVFIHRQELITTLYI
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
246 – 257
A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.
Ohno S.; Kubota T.; Yoshida H.; Tsuji K.; Makiyama T.; Yamada S.; Kuga K.; Yamaguchi I.; Kita T.; Horie M.;
Circ. J. 72:687-693(2008)
Cited for: VARIANT JLNS1 PHE-248; CHARACTERIZATION OF VARIANT JLNS1 PHE-248;
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.