Paralogue Annotation for RYR1 residue 3532

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3532
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3532

No paralogue variants have been mapped to residue 3532 for RYR1.

RYR1	RYSVQTSLIVATLKKMLPIGLNMCAPTDQD>L<ITLAKTRYALKDTDEEVREFLHNNLHLQGK	3562
RYR2	RYSMQTSLIVAALKRLLPIGLNICAPGDQE>L<IALAKNRFSLKDTEDEVRDIIRSNIHLQGK	3518
RYR3	LYSIQTSLIVAALKKMLPIGLNMCTPGDQE>L<ISLAKSRYSHRDTDEEVREHLRNNLHLQEK	3419
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3532H	c.10595T>A	Putative Benign			SIFT: Polyphen: