Paralogue Annotation for RYR2 residue 1144

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1144
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1144

No paralogue variants have been mapped to residue 1144 for RYR2.

RYR2	RVGWSRPGCQPDQELGSDERAFAFDGFKAQ>R<WHQGNEHYGRSWQAGDVVGCMVDMNEHTMM	1174
RYR1	RVGWARPELRPDVELGADELAYVFNGHRGQ>R<WHLGSEPFGRPWQPGDVVGCMIDLTENTII	1160
RYR3	RVGWARPGCRPDVELGADDQAFVFEGNRGQ>R<WHQGSGYFGRTWQPGDVVGCMINLDDASMI	1160
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1144Q	c.3431G>A	Putative Benign		rs193125030	SIFT: deleterious Polyphen: probably damaging