Paralogue Annotation for RYR1 residue 3428

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3428
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3428

No paralogue variants have been mapped to residue 3428 for RYR1.

RYR1	FSVLCRDLYALYPLLIRYVDNNRAQWLTEP>N<PSAEELFRMVGEIFIYWSKSHNFKREEQNF	3458
RYR2	FTTLARDLYAFYPLLIRFVDYNRAKWLKEP>N<PEAEELFRMVAEVFIYWSKSHNFKREEQNF	3419
RYR3	FAVLCRDLYAFYPMLIRYVDNNRSNWLKSP>D<ADSDQLFRMVAEVFILWCKSHNFKREEQNF	3315
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N3428D	c.10282A>G	Putative Benign			SIFT: Polyphen: