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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95180: Variant p.Pro640Leu

Voltage-dependent T-type calcium channel subunit alpha-1H
Gene: CACNA1H
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Variant information Variant position: help 640
Type of variant: help LB/B
Residue change: help From Proline (P) to Leucine (L) at position 640 (P640L, p.Pro640Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 640
Protein sequence length: help 2353
Location on the sequence: help GVGSGKGSTSPGPKGKWAGG P PGTGGHGPLSLNSPDPYEKI
Residue conservation: help 
Human                         GVGSGKGSTSPGPKGKWAGGPPGTGGHGPLSLNSPDPYEKI

Mouse                         GAVNSKGSTSSRPKGLRSAGTPGATAHSPLSLGSPSPYEKI

Rat                           GTVNSKGGTSSRPKGLRGAGAPGAAVHSPLSLGSPRPYEKI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2353 Voltage-dependent T-type calcium channel subunit alpha-1H
Topological domain 420 – 793 Cytoplasmic
Region 621 – 646 Disordered



Literature citations
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.