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RYR1

From SNPedia
is agene
is mentioned by
Full nameryanodine receptor 1 (skeletal)
RelatedRYR2, RYR3
EntrezGene6261
PheGenI6261
VariationViewer6261
ClinVarRYR1
GeneCardsRYR1
dbSNP6261
DiseasesRYR1
SADR6261
HugeNav6261
wikipediaRYR1
googleRYR1
gopubmedRYR1
EVSRYR1
HEFalMpRYR1
MyGene2RYR1
23andMeRYR1
UniProtP21817
EnsemblENSG00000196218
OMIM180901
# SNPs226
 Max MagnitudeChromosome positionSummary
i3002484
i3002773
i5000011
i5000015
i5000016
i5000017
i5000020
i5000022
i5000024
i5008290
i5900460
i6017603
i6017606
i6017636
i6017652
i6017661
i6017665
i6017673
i6017686
i6017694
i6017703
i6017722
i6017748
i6017785
i6017825
i6017835
i6017837
rs10500279038,544,428
rs1057517909038,505,400
rs1057518773038,505,868
rs1057518885038,561,362
rs1057518940038,499,718
rs1057518970038,448,398
rs1057519173038,489,444
rs1057520711038,580,112
rs1057523844038,506,547
rs1057524858038,502,728
rs1064793254038,478,570
rs1064793717038,483,078
rs1064793932038,580,369
rs1064794572038,585,066
rs1064794845038,496,232
rs1064797243038,587,333
rs1085307631038,580,410
rs1085307909038,567,912
rs111364670038,510,566
rs111436401038,523,116
rs111888148338,455,463
rs112563513338,499,223
rs113379223038,460,374
... further results

The RYR1 gene on chromosome 19 encodes the skeletal muscle isoform ryanodine receptor that is fundamental to the process of excitation-contraction coupling and skeletal muscle calcium homeostasis. The gene is large, comprising 106 exons and encoding a protein of 5,038 amino acids.

Mutations in the RYR1 gene have been associated with at least three diseases: malignant hyperthermia (MH), and two congenital myopathies, central core disease (CCD) and multiminicore disease (MmD). The majority of RYR1 gene mutations are missense changes identified in cases of MH and CCD, exhibiting dominant inheritance in cases of MH and both dominant and recessive inheritance in CCD.[PMID 16917943]

Note also that the vast majority of causative mutations are not included on any common DNA microarray (chip) testing platforms at the present time.

Probably the best list of causative mutations in the RYR1 gene leading to malignant hyperthermia is maintained by the European Malignant Hyperthermia Group (EMHG). Their list, modified to include each corresponding SNP rs-identifier and the microarray platform (if any) testing it, is as follows:

Exon # Nucleotide Amino Acid SNP Rs# On microarray?
2 c.103T>C p.Cys35Arg rs193922747 Ancestry v2
2 c.130C>T p.Arg44Cys rs193922748
6 c.487C>T p.Arg163Cys rs118192161 Ancestry v2, Ancestry v2c
6 c.488G>T p.Arg163Leu rs193922753 Ancestry v2
9 c.742G>A p.Gly248Arg rs1801086
9 c.742G>C p.Gly248Arg rs1801086
11 c.982C>T p.Arg328Trp rs193922762
11 c.1021G>A p.Gly341Arg rs121918592 Ancestry v2c
11 c.1021G>C p.Gly341Arg rs121918592 Ancestry v2c
12 c.1201C>T p.Arg401Cys rs193922764
12 c.1209C>G p.Ile403Met rs118192116 Ancestry v2, Ancestry v2c
14 c.1565A>C p.Tyr522Ser rs118192162
15 c.1589G>A p.Arg530His rs111888148 Ancestry v2, Ancestry v2c
15 c.1597C>T p.Arg533Cys rs193922768 Ancestry v2
15 c.1598G>A p.Arg533His rs144336148
15 c.1654C>T p.Arg552Trp rs193922770 Ancestry v2
17 c.1840C>T p.Arg614Cys rs118192172 Ancestry v2, Ancestry v2c
17 c.1841G>T p.Arg614Leu rs193922772
39 c.6487C>T p.Arg2163Cys rs118192175 Ancestry v2c
39 c.6488G>A p.Arg2163His rs118192163 Ancestry v2c
39 c.6502G>A p.Val2168Met rs118192176 Ancestry v2c
40 c.6617C>G p.Thr2206Arg rs118192177
40 c.6617C>T p.Thr2206Met rs118192177
43 c.7007G>A p.Arg2336His rs112563513 Ancestry v2v
44 c.7042-7044delGAG p.Gln2348del rs121918596 Ancestry v2, Ancestry v2c
44 c.7048G>A p.Ala2350Thr rs193922802 Ancestry v2, Ancestry v2c
44 c.7063C>T p.Arg2335Trp rs193922803 Ancestry v2, Ancestry v2c
44 c.7124G>C p.Gly2375Ala rs193922807 Ancestry v2
45 c.7282G>A p.Ala2428Thr rs193922809 Ancestry v2
45 c.7300G>A p.Gly2434Arg rs121918593 Ancestry v2, 23andMe v5, Ancestry v2c
45 c.7304G>A p.Arg2435His rs28933396 23andMe v4, Ancestry v2c, 23andMe v3, 23andMe v1, 23andMe v2
46 c.7354C>T p.Arg2452Trp rs118192124 Ancestry v2
46 c.7360C>T p.Arg2454Cys rs193922816 Ancestry v2, Ancestry v2c
46 c.7361G>A p.Arg2454His rs118192122 Ancestry v2, Ancestry v2c
46 c.7372C>T p.Arg2458Cys rs28933397 23andMe v4, Ancestry v2, Ancestry v2c, 23andMe v3, 23andMe v1, 23andMe v2
46 c.7373G>A p.Arg2458His rs121918594 Ancestry v2
47 c.7522C>T p.Arg2508Cys rs118192178
47 c.7522C>G p.Arg2508Gly rs118192178
47 c.7523G>A p.Arg2508His rs193922818 Ancestry v2
63 c.9310G>A p.Glu3104Lys rs193922832
87 c.11969G>T p.Gly3990Val rs193922843
100 c.14387A>G p.Tyr4796Cys rs118192167 Ancestry v2, Ancestry v2c
100 c.14477C>T p.Thr4826Ile rs121918595 Ancestry v2
100 c.14497C>T p.His4833Tyr rs193922876 Ancestry v2
101 c.14512C>G p.Leu4838Val rs193922878 Ancestry v2
101 c.14545G>A p.Val4849Ile rs118192168 Ancestry v2, Ancestry v2c
101 c.14582G>A p.Arg4861His rs63749869 23andMe v4, Ancestry v2, 23andMe v5, Ancestry v2c, 23andMe v3
102 c.14693T>C p.Ile4898Thr rs118192170 Ancestry v2

Coverage (% of known variants of any magnitude in SNPedia tested by a given company/chip) for variants from this gene is shown in the following table:

SNP % is based on # of SNPs on chip vs in SNPedia (unadjusted for mutation frequency or magnitude)
Gene
Company & chip version RYR1
23andMe v5 10%
Ancestry v2
45%