Paralogue Annotation for RYR1 residue 3534

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3534
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3534

No paralogue variants have been mapped to residue 3534 for RYR1.

RYR1	SVQTSLIVATLKKMLPIGLNMCAPTDQDLI>T<LAKTRYALKDTDEEVREFLHNNLHLQGKVE	3564
RYR2	SMQTSLIVAALKRLLPIGLNICAPGDQELI>A<LAKNRFSLKDTEDEVRDIIRSNIHLQGKLE	3520
RYR3	SIQTSLIVAALKKMLPIGLNMCTPGDQELI>S<LAKSRYSHRDTDEEVREHLRNNLHLQEKSD	3421
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T3534M	c.10601C>T	Putative Benign		rs146914779	SIFT: Polyphen: benign