Paralogue Annotation for RYR1 residue 2388

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2388
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2388

No paralogue variants have been mapped to residue 2388 for RYR1.

RYR1	IRKPECFGPALRGEGGSGLLAAIEEAIRIS>E<DPARDGPGIRRDRRREHFGEEPPEENRVHL	2418
RYR2	IRRPECFGPALRGEGGNGLLAAMEEAIKIA>E<DPSRDGPSPNS-GSSKTLDTEEEEDDTIHM	2384
RYR3	IRRPECFGPALRGEGGNGLLAAMQGAIKIS>E<NPALDLPSQGY-KREVSTGDDEEEEEIVHM	2281
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2388K	c.7162G>A	Putative Benign			SIFT: Polyphen: