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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95180: Variant p.Ala748Val

Voltage-dependent T-type calcium channel subunit alpha-1H
Gene: CACNA1H
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Variant information Variant position: help 748
Type of variant: help US
Residue change: help From Alanine (A) to Valine (V) at position 748 (A748V, p.Ala748Val).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
BLOSUM score: help 0
Variant description: help In ECA6; uncertain significance.
Other resources: help


Sequence information Variant position: help 748
Protein sequence length: help 2353
Location on the sequence: help YEFTQDVRHGDRWDPTRPPR A TDTPGPGPGSPQRRAQQRAA
Residue conservation: help 
Human                         YEFTQDVRHGDRWDPTRPPRATDTPGPGPGSPQRRAQQRAA

Mouse                         YEFTQDVRHGDCRDPVQQPHEGGT--PGHGNERWRPPLRTA

Rat                           YEFTQDVRHGDCRDPVQQPHEVGT--PGHSNERRRTPLRKA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2353 Voltage-dependent T-type calcium channel subunit alpha-1H
Topological domain 420 – 793 Cytoplasmic
Region 708 – 772 Disordered



Literature citations
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.