Paralogue Annotation for RYR1 residue 4288

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4288
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4288

No paralogue variants have been mapped to residue 4288 for RYR1.

RYR1	ETDEDEGAGAAEAGAEGAEEGAAGLEGTAA>T<AAAGATARVVAAAGRALRGLSYRSLRRRVR	4318
RYR2	RSANKEESEK-----ERPEEQGPRMAFFSI>L<TVRSALFALRYNILTLMRMLSLKSLKKQMK	4269
RYR3	RPEEEEEDEDSSYVLEIAGEEEEDGSLEPA>S<AFAMACASVKRNVTDFLKRATLKNLRKQYR	4170
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T4288M	c.12863C>T	Putative Benign			SIFT: tolerated Polyphen: benign
p.T4288K	c.12863C>A	Putative Benign			SIFT: Polyphen: benign