Paralogue Annotation for RYR1 residue 3982

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3982
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3982

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	S3938R	Ventricular tachycardia, polymorphic	High	9	16818210, 24025405, 25525159

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR1.

RYR1	KAMSVAKQVFNSLTEYIQGPCTGNQQSLAH>S<RLWDAVVGFLHVFAHMMMKLAQDSSQIELL	4012
RYR2	KAIQVAKQVFNTLTEYIQGPCTGNQQSLAH>S<RLWDAVVGFLHVFAHMQMKLSQDSSQIELL	3968
RYR3	KALAVTKQIFNSLTEYIQGPCIGNQQSLAH>S<RLWDAVVGFLHVFANMQMKLSQDSSQIELL	3864
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 3982 for RYR1.