Paralogue Annotation for RYR2 residue 4405

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4405
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4405

No paralogue variants have been mapped to residue 4405 for RYR2.

RYR2	----IFGLDLKREGGQYKLIPHNPNAGLSD>L<MSN-PVPMPE-V-QEKFQEQ--KA---KEE	4427
RYR1	GPGGADGAVAVTDGGPFRPEGAGGLGDMGD>T<TPAEPPTPEGSP-ILKRKLGVDGVEEELPP	4489
RYR3	----LFGLHPKKEGS-LKHGPEVGLGDLSE>I<IGKDEPPTLESTVQKKRKA---QA---AEM	4330
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4405F	c.13213C>T	Putative Benign			SIFT: tolerated Polyphen: possibly damaging