Variant position: 535 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 660 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 QAEEEPSVEPVKKSQHRSSS SAPHHNHRSGTSRGLSRQETF
Mouse QAEEEPCLEPVKKSQHRSSS -ATHQNHRSGTGRGLSRQETF
Rat QAEEEPCLEPVKKSQHRSSS -ATHQNHRSGTGRGLSRQETF
Bovine QAEEEHCPEPVKKAQHRSST --QHHNHRSGTSRGLSRQETL
Rabbit QAEEEPCLEPAKKSQHRSSS SAPHHNHRSGTSRGLSRQETF
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 – 660 Voltage-dependent L-type calcium channel subunit beta-2
486 – 641 Disordered
549 – 549 Required for CaMK2D-binding
550 – 550 Phosphoserine
554 – 554 Phosphothreonine; by CaMK2D
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: VARIANT BRGDA4 LEU-535; CHARACTERIZATION OF VARIANT BRGDA4 LEU-535;
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