Paralogue Annotation for RYR1 residue 3974

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3974
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3974

No paralogue variants have been mapped to residue 3974 for RYR1.

RYR1	EQGKRNFSKAMSVAKQVFNSLTEYIQGPCT>G<NQQSLAHSRLWDAVVGFLHVFAHMMMKLAQ	4004
RYR2	EQGQRNFSKAIQVAKQVFNTLTEYIQGPCT>G<NQQSLAHSRLWDAVVGFLHVFAHMQMKLSQ	3960
RYR3	ESGQHNFSKALAVTKQIFNSLTEYIQGPCI>G<NQQSLAHSRLWDAVVGFLHVFANMQMKLSQ	3856
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G3974R	c.11920G>A	Putative Benign			SIFT: Polyphen: