Variant Annotations
PharmGKB variant annotations provide information about variant-drug pairs based on individual PubMed publications. Each annotation represents information from a single paper and the goal is to report the information that the author states, not an interpretation of the paper. The PMID for supporting PubMed publications is found in the "Evidence" field.
Information presented, including study size, allele frequencies and statistics is taken directly from the publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of participants used for the calculation of the association statistics, so the number may vary slightly from what is reported in the abstract of the paper. OMB Race Category information is derived from the paper and mapped to standardized categories. Category definitions may be found by clicking on the "OMB Race Category" link.
There are 2 annotations for this variant. Register or sign in to see them.
There are 2 disease-related annotations for this variant. Register or sign in to see them.
VIP Variant in KCNH2
Note: The KCNH2 gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand; therefore the alleles within our variant annotations will differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.
This variant has been implicated in sensitivity to the IKr blocker dofetilide [Article:15522280]. However, in in vitro studies, sensitivity to another blocker, cisapride, same similar to WT [Article:14975928]. Another study demonstrated that the R1047L mutation impaired K+ current density [Article:17275752]. Allele frequencies for the minor allele: SIDS African-American 0%; African-American-control 0.5%; SIDS Caucasian 4.2%; Caucasian control 1.5% [Article:14975928]. Amino acid frequencies in Danish population Arg 96%; Leu 4% [Article:11468227].
| Key Publications: | |
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| Drugs / Other Molecules |
Drug (2)
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Appendix
| Genomic Variant & GenBank ID | 11220443 C>A on NT_007914.14 |
|---|---|
| mRNA Variant & GenBank ID: | 2120G>T on NM_172057.1 |
| Protein Variant & GenBank ID: | R1047L on NP_000229.1 |
| DNA Source Containing Homozygous Reference Allele(Coriell Lines): | CC Sample PA12670643 (GM17438) |
| DNA Source Containing Heterozygous Reference Allele (Coriell Lines) | AC Sample PA126746683 (GM17180) |
| DNA Source Containing Homozygous Reference Minor Allele(Coriell Lines): | not found in PharmGKB |
Publications related to rs36210421 at chr7:150644428: 2
| Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels. American journal of physiology. Heart and circulatory physiology. 2004. Anson Blake D, et al. [Article:14975928@PubMed] | |
| Role of a KCNH2 polymorphism (R1047 L) in dofetilide-induced Torsades de Pointes. Journal of molecular and cellular cardiology. 2004. Sun Zhuoqian, et al. [Article:15522280@PubMed] |