Paralogue Annotation for RYR1 residue 4375

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4375
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4375

No paralogue variants have been mapped to residue 4375 for RYR1.

RYR1	AAGAGAAAGALGLLWGSLFGGGLVEGAKKV>T<VTELLAGMPDPTSDEVHGEQPAGPGGDADG	4405
RYR2	HFVASVFRGFFRIICSLLLGGSLVEGAKKI>K<VAELLANMPDPTQDEVRGDGEEGERKP-LE	4355
RYR3	QLLFTILGGIFQILWSTVFGGGLVEGAKNI>R<VTKILGDMPDPTQFGIHDDTMEAERAEVME	4257
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T4375M	c.13124C>T	Putative Benign			SIFT: tolerated Polyphen: