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UniProtKB/Swiss-Prot O95180: Variant p.Arg2077His

Voltage-dependent T-type calcium channel subunit alpha-1H
Gene: CACNA1H
Chromosomal location: 16p13.3
Variant information

Variant position:  2077
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Histidine (H) at position 2077 (R2077H, p.Arg2077His).
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:  Change from large size and basic (R) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  
Links to websites of interest for the variant.



Sequence information

Variant position:  2077
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2353
The length of the canonical sequence.

Location on the sequence:   SPPRSPRPASVRTRKHTFGQ  R CVSSRPAAPGGEEAEASDPA
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                         SPPRSPRPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPA

Mouse                         SPPCSPRPASVRTRKHTFGQHCISSRPPTLGGDDAEAADPA

Rat                           SPPCSPRPASVRTRKHTFGQRCISSRPPTLGGDEAEAADPA

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.

TypePositionsDescription
Chain 1 – 2353 Voltage-dependent T-type calcium channel subunit alpha-1H
Topological domain 1864 – 2353 Cytoplasmic


Literature citations

Structure and functional characterization of a novel human low-voltage activated calcium channel.
Williams M.E.; Washburn M.S.; Hans M.; Urrutia A.; Brust P.F.; Prodanovich P.; Harpold M.M.; Stauderman K.A.;
J. Neurochem. 72:791-799(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; SUBCELLULAR LOCATION; ACTIVITY REGULATION; VARIANT HIS-2077; TISSUE SPECIFICITY;

Organization and alternative splicing of CACNA1H.
Mittman S.; Agnew W.S.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 424-661 AND 838-2373 (ISOFORM 1); VARIANTS LEU-640 AND HIS-2077;

Association between genetic variation of CACNA1H and childhood absence epilepsy.
Chen Y.; Lu J.; Pan H.; Zhang Y.; Wu H.; Xu K.; Liu X.; Jiang Y.; Bao X.; Yao Z.; Ding K.; Lo W.H.; Qiang B.; Chan P.; Shen Y.; Wu X.;
Ann. Neurol. 54:239-243(2003)
Cited for: VARIANTS ECA6 LEU-161; LYS-282; SER-456; SER-499; LEU-648; GLN-744; VAL-748; ASP-773; SER-784; MET-831; SER-848 AND ASN-1463; VARIANTS VAL-313; LEU-640; ALA-664; SER-684; CYS-788; HIS-2060; HIS-2077 AND SER-2173;

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.