Variant position: 381 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 TMEGWTDVLYWVNDAVGRDW PWIYFVTLIIIGSFFVLNLVL
Mouse TMEGWTDVLYWMQDAMGYEL PWVYFVSLVIFGSFFVLNLVL
Rat TMEGWTDVLYWMQDAMGYEL PWVYFVSLVIFGSFFVLNLVL
Rabbit TMEGWTDVLYWMQDAMGYEL PWVYFVSLVIFGSFFVLNLVL
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
381 – 401 Helical; Name=S6 of repeat I
111 – 408 I
363 – 363 Calcium
363 – 363 Calcium ion selectivity and permeability
372 – 391 VNDAVGRDWPWIYFVTLIII -> MQDAMGYELPWVYFVSLVIF. In isoform 3, isoform 16, isoform 17, isoform 18, isoform 23, isoform 28, isoform 36 and isoform 37.
363 – 363 E -> K. Loss of selectivity for divalent over monovalent cations.
Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.
Fukuyama M.; Wang Q.; Kato K.; Ohno S.; Ding W.G.; Toyoda F.; Itoh H.; Kimura H.; Makiyama T.; Ito M.; Matsuura H.; Horie M.;
Cited for: VARIANTS LQT8 SER-381; ILE-456; ASP-582; HIS-858 AND CYS-1831; CHARACTERIZATION OF VARIANTS LQT8 SER-381; ILE-456; ASP-582; HIS-858 AND CYS-1831; FUNCTION; SUBUNIT; SUBCELLULAR LOCATION; INTERACTION WITH CACNB2 AND CACNA2D1;
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.