Paralogue Annotation for RYR1 residue 4978

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4978
Reference Amino Acid: T - Threonine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4978

No paralogue variants have been mapped to residue 4978 for RYR1.



RYR1QEQVKEDMETKCFICGIGSDYFDTTPHGFE>T<HTLEEHNLANYMFFLMYLINKDETEHTGQE5008
RYR2QEQVKEDMETKCFICGIGNDYFDTVPHGFE>T<HTLQEHNLANYLFFLMYLINKDETEHTGQE4937
RYR3QEQVREDMETKCFICGIGNDYFDTTPHGFE>T<HTLQEHNLANYLFFLMYLINKDETEHTGQE4840
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T4978Ac.14932A>G Putative BenignSIFT: deleterious
Polyphen: