Paralogue Annotation for RYR1 residue 3848

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3848
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3848

No paralogue variants have been mapped to residue 3848 for RYR1.

RYR1	YLKDKKEVGFFQSIQALMQTCSVLDLNAFE>R<QNKAEGLGMVNEDGTVINRQNGEKVMADDE	3878
RYR2	YLKEKKDVGFFQSLAGLMQSCSVLDLNAFE>R<QNKAEGLGMVTEEGS------GEKVLQDDE	3834
RYR3	YLKEKKDAGFFQSLSGLMQSCSVLDLNAFE>R<QNKAEGLGMVTEEGTLIVRERGEKVLQNDE	3730
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3848K	c.11543G>A	Putative Benign			SIFT: Polyphen: benign