Paralogue Annotation for RYR1 residue 3601

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3601
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3601

No paralogue variants have been mapped to residue 3601 for RYR1.

RYR1	EDADDPEKIVRRV-------------QEVS>A<VLYYLDQTEHPYKSKKAVWHKLLSKQRRRA	3631
RYR2	DDTSDPEKTVERVLDIANVLFHLEQKSKRV>G<RRHYCL-VEHPQRSKKAVWHKLLSKQRKRA	3598
RYR3	EEPFNPEKTVERV-------------QRIS>A<AVFHLEQVEQPLRSKKAVWHKLLSKQRKRA	3486
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3601T	c.10801G>A	Putative Benign			SIFT: Polyphen:
p.A3601V	c.10802C>T	Putative Benign			SIFT: Polyphen: