Variant position: 216 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 KPISIIDLIVVVASMVVLCV GSKGQVFATSAIRGIRFLQIL
Mouse KPISIIDLIVVVASMVVLCV GSKGQVFATSAIRGIRFLQIL
Rat KPISIIDLIVVVASMVVLCV GSKGQVFATSAIRGIRFLQIL
Pig KPISIIDLIVVVASMVVLCV GSKGQVFATSAIRGIRFLQIL
Rabbit KPISIIDLIVVVASMVVLCV GSKGQVFATSAIRGIRFLQIL
Xenopus laevis KPISVIDLIVVVASVIVLCV GSNGQVFATSAIRGIRFLQIL
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
197 – 217 Helical; Name=Segment S3
The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.
van den Berg M.H.; Wilde A.A.M.; Robles de Medina E.O.; Meyer H.; Geelen J.L.M.C.; Jongbloed R.J.E.; Wellens H.J.; Geraedts J.P.M.;
Hum. Genet. 100:356-361(1997)
Cited for: VARIANT LQT1 ARG-216;
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