Paralogue Annotation for RYR1 residue 3968

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3968
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3968

No paralogue variants have been mapped to residue 3968 for RYR1.

RYR1	GKDVIEEQGKRNFSKAMSVAKQVFNSLTEY>I<QGPCTGNQQSLAHSRLWDAVVGFLHVFAHM	3998
RYR2	GKDVIDEQGQRNFSKAIQVAKQVFNTLTEY>I<QGPCTGNQQSLAHSRLWDAVVGFLHVFAHM	3954
RYR3	GKDIIDESGQHNFSKALAVTKQIFNSLTEY>I<QGPCIGNQQSLAHSRLWDAVVGFLHVFANM	3850
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3968L	c.11902A>C	Putative Benign			SIFT: Polyphen: