Paralogue Annotation for RYR1 residue 3978

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3978
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3978

No paralogue variants have been mapped to residue 3978 for RYR1.

RYR1	RNFSKAMSVAKQVFNSLTEYIQGPCTGNQQ>S<LAHSRLWDAVVGFLHVFAHMMMKLAQDSSQ	4008
RYR2	RNFSKAIQVAKQVFNTLTEYIQGPCTGNQQ>S<LAHSRLWDAVVGFLHVFAHMQMKLSQDSSQ	3964
RYR3	HNFSKALAVTKQIFNSLTEYIQGPCIGNQQ>S<LAHSRLWDAVVGFLHVFANMQMKLSQDSSQ	3860
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S3978G	c.11932A>G	Putative Benign			SIFT: Polyphen: