Paralogue Annotation for RYR2 residue 38

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 38
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 38

No paralogue variants have been mapped to residue 38 for RYR2.

RYR2	EDEIQFLRTDDEVVLQCTATIHKEQQKLCL>A<AEGFGNRLCFLESTSNSKNVPPDLSICTFV	68
RYR1	EDEVQFLRTDDEVVLQCSATVLKEQLKLCL>A<AEGFGNRLCFLEPTSNAQNVPPDLAICCFV	67
RYR3	EDEIQFLRTEDEVVLQCIATIHKEQRKFCL>A<AEGLGNRLCFLEPTSEAKYIPPDLCVCNFV	69
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A38S	c.112G>T	Putative Benign			SIFT: Polyphen: