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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P11509: Variant p.Lys194Glu

Cytochrome P450 2A6
Gene: CYP2A6
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Variant information Variant position: help 194
Type of variant: help LB/B
Residue change: help From Lysine (K) to Glutamate (E) at position 194 (K194E, p.Lys194Glu).
Physico-chemical properties: help Change from large size and basic (K) to medium size and acidic (E)
BLOSUM score: help 1
Variant description: help In allele CYP2A6*15.
Other resources: help


Sequence information Variant position: help 194
Protein sequence length: help 494
Location on the sequence: help LSRTVSNVISSIVFGDRFDY K DKEFLSLLRMMLGIFQFTST
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 494 Cytochrome P450 2A6
Mutagenesis 208 – 208 I -> S. Increases phenacetin O-deethylation activity 10 fold; when associated with F-300 and A-301. Increases phenacetin O-deethylation activity 38 fold; when associated with F-300; A-301 and G-369.
Mutagenesis 213 – 213 S -> A. No effect on phenacetin O-deethylation activity.



Literature citations
Twenty one novel single nucleotide polymorphisms (SNPs) of the CYP2A6 gene in Japanese and Caucasians.
Kiyotani K.; Fujieda M.; Yamazaki H.; Shimada T.; Guengerich F.P.; Parkinson A.; Nakagawa K.; Ishizaki T.; Kamataki T.;
Drug Metab. Pharmacokinet. 17:482-487(2002)
Cited for: VARIANTS ARG-5; ASN-29; GLU-194 AND SER-203;
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