Paralogue Annotation for RYR1 residue 4194

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4194
Reference Amino Acid: F - Phenylalanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4194

No paralogue variants have been mapped to residue 4194 for RYR1.



RYR1ELAESILEYFRPYLGRIEIMGASRRIERIY>F<EISETNRAQWEMPQVKESKRQFIFDVVNEG4224
RYR2ELAESVLNYFQPFLGRIEIMGSAKRIERVY>F<EISESSRTQWEKPQVKESKRQFIFDVVNEG4180
RYR3DPAESVLNYFEPYLGRIEIMGGAKKIERVY>F<EISESSRTQWEKPQVKESKRQFIFDVVNEG4076
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See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F4194Lc.12580T>C Other Disease PhenotypeSIFT:
Polyphen:
ReportsOther Disease Phenotype Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet. 2014 23(9):2279-89. doi: 10.1093/hmg/ddt618. 24319099
p.F4194Lc.12582C>G Putative BenignSIFT:
Polyphen: