Paralogue Annotation for RYR2 residue 1423

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1423
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1423

No paralogue variants have been mapped to residue 1423 for RYR2.

RYR2	TKPDYSTSHSARLTEDVLADDRDDYDFLMQ>T<-STYYYSVRIFPGQEPANVWVGWITSDFHQ	1452
RYR1	MTQPPATPTLPRLPHDVVPADNRDDPEIIL>N<TTTYYYSVRVFAGQEPSCVWAGWVTPDYHQ	1458
RYR3	---------SPCLDSEAFQKRKQMQEILSH>T<TTQCYYAIRIFAGQDPSCVWVGWVTPDYHL	1354
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1423M	c.4268C>T	Putative Benign			SIFT: tolerated Polyphen: possibly damaging