Paralogue Annotation for RYR2 residue 2538

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2538
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2538

No paralogue variants have been mapped to residue 2538 for RYR2.

RYR2	SATDMALALNRYLCTAVLPLLTRCAPLFAG>T<EHHASLIDSLLHTVYRLSKGCSLTKAQRDS	2568
RYR1	STTEMALALNRYLCLAVLPLITKCAPLFAG>T<EHRAIMVDSMLHTVYRLSRGRSLTKAQRDV	2602
RYR3	STTEAALALNRYICSAVLPLLTRCAPLFAG>T<EHCTSLIDSTLQTIYRLSKGRSLTKAQRDT	2465
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T2538A	c.7612A>G	Putative Benign			SIFT: Polyphen: