Paralogue Annotation for RYR1 residue 2157

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2157
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2157

No paralogue variants have been mapped to residue 2157 for RYR1.

RYR1	QYDGLGELLRALPRAYTISPSSVEDTMSLL>E<CLGQIRSLLIVQMGPQEENLMIQSIGNIMN	2187
RYR2	QYDGIGGLVRALPKTYTINGVSVEDTINLL>A<SLGQIRSLLSVRMGKEEEKLMIRGLGDIMN	2151
RYR3	QYDSIGELLQALRKTYTISHTSVSDTINLL>A<ALGQIRSLLSVRMGKEEELLMINGLGDIMN	2049
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2157K	c.6469G>A	Putative Benign			SIFT: tolerated Polyphen: benign
p.E2157V	c.6470A>T	Putative Benign			SIFT: Polyphen: