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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13936: Variant p.Lys1893Arg

Voltage-dependent L-type calcium channel subunit alpha-1C
Gene: CACNA1C
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Variant information Variant position: help 1893 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Lysine (K) to Arginine (R) at position 1893 (K1893R, p.Lys1893Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1893 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2221 The length of the canonical sequence.
Location on the sequence: help LELRRDSGSAGTQAHCLLLR K ANPSRCHSRESQAAMAGQEE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         LELRRDSGSAGTQAHCLLLRKANPSRCHSRESQAAMAGQEE

Mouse                         --------------------------CHSRESQGATVNQEI

Rat                           --------------------------CHSRESQGATVSQDM

Rabbit                        --------------------------CHSQESQIAMACQEG

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 2221 Voltage-dependent L-type calcium channel subunit alpha-1C
Topological domain 1525 – 2221 Cytoplasmic
Alternative sequence 1864 – 1898 Missing. In isoform 11, isoform 12, isoform 13, isoform 14, isoform 15, isoform 17, isoform 19, isoform 20, isoform 21, isoform 22, isoform 23, isoform 24, isoform 25, isoform 26, isoform 27, isoform 29, isoform 30, isoform 31, isoform 32, isoform 35 and isoform 37.
Alternative sequence 1864 – 1897 ERHVPMCEDLELRRDSGSAGTQAHCLLLRKANPS -> MHCCDMLDGGTFPPALGPRRAPPCLHQQLQGSLAGLREDTPCIVPGHASLCCSSRVGEWLPAGCTAPQHA. In isoform 2, isoform 18 and isoform 28.



Literature citations
Molecular diversity of L-type Ca2+ channel transcripts in human fibroblasts.
Soldatov N.M.;
Proc. Natl. Acad. Sci. U.S.A. 89:4628-4632(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; ALTERNATIVE SPLICING (ISOFORM 1); VARIANTS VAL-1869 AND ARG-1893; Properties of three COOH-terminal splice variants of a human cardiac L-type Ca2+-channel alpha1-subunit.
Kloeckner U.; Mikala G.; Eisfeld J.; Iles D.E.; Strobeck M.; Mershon J.L.; Schwartz A.; Varadi G.;
Am. J. Physiol. 272:H1372-H1381(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 16 AND 17); ALTERNATIVE SPLICING; FUNCTION; SUBCELLULAR LOCATION; VARIANTS ARG-84; VAL-1869 AND ARG-1893; Functional expression of splice variants of human l-type calcium channel (isoform 1 gene).
Soldatov N.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 11; 28; 29; 30; 31; 32 AND 33); ALTERNATIVE SPLICING; VARIANTS ARG-84; VAL-1869 AND ARG-1893;
Disclaimer: 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.