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UniProtKB/Swiss-Prot Q9NY47: Variant p.Leu1047Pro

Voltage-dependent calcium channel subunit alpha-2/delta-2
Gene: CACNA2D2
Variant information

Variant position:  1047
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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:  From Leucine (L) to Proline (P) at position 1047 (L1047P, p.Leu1047Pro).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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

Variant description:  In CASVDD; impaired regulation of current density and inactivation kinetics of N- and L-type calcium channels.
Any additional useful information about the variant.

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



Sequence information

Variant position:  1047
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1150
The length of the canonical sequence.

Location on the sequence:   ASYNAIIDCGNCSRLFHAQR  L TNTNLLFVVAEKPLCSQCEA
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                         ASYNAIIDCGNCSRLFHAQRLTNTNLLFVVAEKPLCSQCEA

Mouse                         ASYNAIIDCGNCSRLFHAQRLTNTNLLFVVAEKPLCSQCEA

Rat                           ASYNAIIDCGNCSRLFHAQRLTNTNLLFVVAEKPLCSQCEV

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 19 – 1150 Voltage-dependent calcium channel subunit alpha-2/delta-2
Chain 1002 – 1150 Voltage-dependent calcium channel subunit delta-2
Topological domain 19 – 1113 Extracellular
Disulfide bond 443 – 1098 Interchain (between alpha-2-2 and delta-2 chains)


Literature citations

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.
Edvardson S.; Oz S.; Abulhijaa F.A.; Taher F.B.; Shaag A.; Zenvirt S.; Dascal N.; Elpeleg O.;
J. Med. Genet. 50:118-123(2013)
Cited for: FUNCTION; INVOLVEMENT IN CASVDD; VARIANT CASVDD PRO-1047; CHARACTERIZATION OF VARIANT CASVDD PRO-1047;

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.