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UniProtKB/Swiss-Prot Q7Z3S7: Variant p.Ile327Val

Voltage-dependent calcium channel subunit alpha-2/delta-4
Gene: CACNA2D4
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Variant information Variant position: help 327
Type of variant: help LB/B
Residue change: help From Isoleucine (I) to Valine (V) at position 327 (I327V, p.Ile327Val).
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 327
Protein sequence length: help 1137
Location on the sequence: help MTIAKHTITTILDTLGENDF I NIIAYNDYVHYIEPCFKGIL
Residue conservation: help 
Human                         MTIAKHTITTILDTLGENDFINIIAYNDYVHYIEPCFKGIL

Mouse                         MAIAKHTITTILDTLGENDFVNIIAYNDYVHYIEPCFKGIL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 20 – 1137 Voltage-dependent calcium channel subunit alpha-2/delta-4
Chain 20 – 991 Voltage-dependent calcium channel subunit alpha-2-4
Topological domain 20 – 1115 Extracellular
Domain 291 – 473 VWFA
Alternative sequence 1 – 855 Missing. In isoform 7.



Literature citations
Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit.
Qin N.; Yagel S.; Momplaisir M.-L.; Codd E.E.; D'Andrea M.R.;
Mol. Pharmacol. 62:485-496(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 4; 5 AND 6); FUNCTION; TISSUE SPECIFICITY; LACK OF GABAPENTIN-BINDING; INTERACTION WITH CACNA1C AND CACNB3; VARIANT VAL-327; The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2); VARIANT VAL-327;
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.