Paralogue Annotation for RYR1 residue 3507

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3507
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3507

No paralogue variants have been mapped to residue 3507 for RYR1.

RYR1	KMAKAGDIQSGGSDQERTKKKRRGDRYSVQ>T<SLIVATLKKMLPIGLNMCAPTDQDLITLAK	3537
RYR2	KMSKAA-----VSDQERKKMKRKGDRYSMQ>T<SLIVAALKRLLPIGLNICAPGDQELIALAK	3493
RYR3	KMSKAMQVKSGGQDQERKKTKRRGDLYSIQ>T<SLIVAALKKMLPIGLNMCTPGDQELISLAK	3394
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T3507M	c.10520C>T	Putative Benign		rs371839408	SIFT: deleterious Polyphen: benign