Variant position: 1989 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 GFLRSASLGRRASFHLECLK RQKDRGGDISQKTVLPLHLVH
Mouse SFLRSASLGRRASFHLECLK RQKDQGGDISQKTALPLHLVH
Rat SFLRSASLGRRASFHLECLK RQKDQGGDISQKTALPLHLVH
Rabbit GFLRSASLGRRASFHLECLK RQKNQGGDISQKTVLPLHLVH
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
1525 – 2221 Cytoplasmic
1981 – 1981 Phosphoserine; by PKA
Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.
Boczek N.J.; Best J.M.; Tester D.J.; Giudicessi J.R.; Middha S.; Evans J.M.; Kamp T.J.; Ackerman M.J.;
Circ. Cardiovasc. Genet. 6:279-289(2013)
Cited for: VARIANTS LQT8 GLU-834; ARG-857; LEU-857 AND GLN-1989; CHARACTERIZATION OF VARIANT LQT8 ARG-857; FUNCTION; INVOLVEMENT IN LQT8;
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.