Variant position: 490 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2221 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 ETESVNTENVAGGDIEGENC GARLAHRISKSKFSRYWRRWN
Mouse ETESVNTENVAGGDIEGENC GARLAHRISKSKFSRYWRRWN
Rat ETESVNTENVAGGDIEGENC GARLAHRISKSKFSRYWRRWN
Rabbit ETESVNTENVAGGDIEGENC GARLAHRISKSKFSRYWRRWN
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 – 2221 Voltage-dependent L-type calcium channel subunit alpha-1C
406 – 524 Cytoplasmic
476 – 476 Phosphothreonine
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.
Antzelevitch C.; Pollevick G.D.; Cordeiro J.M.; Casis O.; Sanguinetti M.C.; Aizawa Y.; Guerchicoff A.; Pfeiffer R.; Oliva A.; Wollnik B.; Gelber P.; Bonaros E.P. Jr.; Burashnikov E.; Wu Y.; Sargent J.D.; Schickel S.; Oberheiden R.; Bhatia A.; Hsu L.F.; Haissaguerre M.; Schimpf R.; Borggrefe M.; Wolpert C.;
Cited for: VARIANTS BRGDA3 VAL-39 AND ARG-490; CHARACTERIZATION OF VARIANTS BRGDA3 VAL-39 AND ARG-490;
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.