Variant position: 84 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 LMGSAGNATISTVSSTQRKR QQYGKPKKQGSTTATRPPRAL
Mouse LMGSAGNATISTVSSTQRKR QQYGKPKKQGGTTATRPPRAL
Rat LMGSAGNATISTVSSTQRKR QQYGKPKKQGGTTATRPPRAL
Rabbit LMGSAGNATISTVSSTQRKR QQYGKPKKQGSTTATRPPRAL
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
1 – 124 Cytoplasmic
Cloning, chromosomal localization, and functional expression of the alpha-1 subunit of the L-type voltage-dependent calcium channel from normal human heart.
Schultz D.; Mikala G.; Yatani A.; Engle D.B.; Iles D.E.; Segers B.; Sinke R.J.; Weghuis D.O.; Kloeckner U.; Wakamori M.; Wang J.-J.; Melvin D.; Varadi G.; Schwartz A.;
Proc. Natl. Acad. Sci. U.S.A. 90:6228-6232(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 18 AND 28); NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1822-1863; FUNCTION; ACTIVITY REGULATION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT ARG-84;
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).
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 11; 28; 29; 30; 31; 32 AND 33); ALTERNATIVE SPLICING; VARIANTS ARG-84; VAL-1869 AND ARG-1893;
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.