Paralogue Annotation for RYR1 residue 1511

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1511
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1511

No paralogue variants have been mapped to residue 1511 for RYR1.

RYR1	NVHSSLKCSNCYMVWGGDFVSPGQQGRISH>T<DLVIGCLVDLATGLMTFTANGKESNTFFQV	1541
RYR2	KVHESIKRSNCYMVCAGESMSPGQ-G-RNN>N<GLEIGCVVDAASGLLTFIANGKELSTYYQV	1533
RYR3	RVHESVKRSNCYMVWGGDIVASSQRSNRSN>V<DLEIGCLVDLAMGMLSFSANGKELGTCYQV	1437
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1511M	c.4532C>T	Putative Benign			SIFT: Polyphen: