注释ID

1447635912

变量_单倍型

rs193922818

基因

RYR1

药物名称(英)

"caffeine","chlorocresol"

药物名称(中)

“咖啡因”、“氯甲酚”

PMID

26381711

类型

Other

含义

yes

记事

Standart assay system was used (introduced by MacLennan), which meets EMHG criteria for functional characterization. Variant was introduced into rabbit skeletal muscle RYR1 cDNA and transfected into HEK-293 cells. Dose-response curve for caffeine and chorocresol as trigger agents were measured with calcium fluorescence measurements. The EC50 values were lower for the construct containing the variant compared to wild-type.

专家论述

Allele A is associated with increased sensitivity to caffeine and chlorocresol in HEK-293 cells as compared to allele G.

等位基因

A

专家评论

变体注释摘要

id	研究类型	特征类型
26820		Drug
26819		Drug