Variant position: 1333 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2016 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 ALSRFEGMRVVVNALVGAIP SIMNVLLVCLIFWLIFSIMGV
Mouse ALSRFEGMRVVVNALVGAIP SIMNVLLVCLIFWLIFSIMGV
Rat ALSRFEGMRVVVNALVGAIP SIMNVLLVCLIFWLIFSIMGV
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.
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
Millat G.; Chevalier P.; Restier-Miron L.; Da Costa A.; Bouvagnet P.; Kugener B.; Fayol L.; Gonzalez Armengod C.; Oddou B.; Chanavat V.; Froidefond E.; Perraudin R.; Rousson R.; Rodriguez-Lafrasse C.;
Clin. Genet. 70:214-227(2006)
Cited for: VARIANTS LQT3 VAL-9; GLN-225; ARG-639; TYR-1333; TRP-1609 AND ASN-1819;
Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.
Huang H.; Millat G.; Rodriguez-Lafrasse C.; Rousson R.; Kugener B.; Chevalier P.; Chahine M.;
FEBS Lett. 583:890-896(2009)
Cited for: VARIANT SIDS TYR-1333;
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