Paralogue Annotation for RYR1 residue 4592

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4592
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4592

No paralogue variants have been mapped to residue 4592 for RYR1.

RYR1	TLRFLALFLAFAINFILLFYKVSDSPPGED>D<MEGSAAGDVSGAGSGGSSGW-GLGAGEEAE	4621
RYR2	NMRMLALFVAFAINFILLFYKVSTSSVVEG>K<E------LPTRSSSENAK-VTSLDS-----	4549
RYR3	NLRFLALFVAFAINFILLFYKVTEEPLEEE>T<E------DVANLWN-------SFND-----	4454
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D4592N	c.13774G>A	Unknown			SIFT: Polyphen: