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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
SADR6261
HugeNav6261
wikipediaRYR1
googleRYR1
gopubmedRYR1
EVSRYR1
HEFalMpRYR1
MyGene2RYR1
23andMeRYR1
UniProtP21817
EnsemblENSG00000196218
OMIM180901
# SNPs155
 Max MagnitudeChromosome positionSummary
rs10500279038,544,428
rs111364670038,510,566
rs111436401038,523,116
rs111888148038,455,463
rs112563513038,499,223
rs118192113038,442,395
rs118192115038,446,484
rs118192116338,451,850
rs118192117038,451,846
rs118192118038,452,854
rs118192119038,455,328
rs118192120038,483,311
rs118192121038,496,910
rs118192122338,500,643
rs118192123038,500,640
rs118192124038,500,636
rs118192125038,506,952
rs118192126038,519,295
rs118192127038,527,777
rs118192129038,565,320
rs118192130038,570,620
rs118192131038,570,650
rs118192132038,572,163
rs118192133038,572,172
rs118192134038,572,182
rs118192135038,572,185
rs118192136038,572,184
rs118192138038,572,221
rs118192139038,572,224
rs118192140038,573,304
rs118192141038,575,959
rs118192142038,580,057
rs118192143038,580,395
rs118192144038,580,430
rs118192146038,580,449
rs118192147038,584,955
rs118192148038,584,986
rs118192149038,584,967
rs118192150038,584,973
rs118192151038,584,974
rs118192153038,585,013
rs118192154038,585,037
rs118192155038,585,055
rs118192156038,585,058
rs118192158038,585,952
rs118192159038,585,948
rs118192160038,442,361
rs118192161338,444,211
rs118192162338,455,359
rs118192163338,494,565
... 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.35Cys>Arg rs193922747 Ancestry v2
6 c.487C>T p.163Arg>Cys rs118192161 Ancestry v2
6 c.488G>T p.163Arg>Leu rs193922753 Ancestry v2
9 c.742G>A p.248Gly>Arg rs1801086
9 c.742G>C p.248Gly>Arg rs1801086
11 c.1021G>A p.341Gly>Arg rs121918592
12 c.1209C>G p.403Ile>Met rs118192116 Ancestry v2
14 c.1565A>C p.522Tyr>Ser rs118192162
15 c.1654C>T p.552Arg>Trp rs193922770 Ancestry v2
17 c.1840C>T p.614Arg>Cys rs118192172 Ancestry v2
17 c.1841G>T p.614Arg>Leu rs193922772
39 c.6487C>T p.2163Arg>Cys rs118192175
39 c.6488G>A p.2163Arg>His rs118192163
39 c.6502G>A p.2168Val>Met rs118192176
40 c.6617C>G p.2206Thr>Arg rs118192177
40 c.6617C>T p.2206Thr>Met rs118192177
44 c.7048G>A p.2350Ala>Thr rs193922802 Ancestry v2
44 c.7124G>C p.2375Gly>Ala rs193922807 Ancestry v2
45 c.7282G>A p.2428Ala>Thr rs193922809 Ancestry v2
45 c.7300G>A p.2434Gly>Arg rs121918593 Ancestry v2
45 c.7304G>A p.2435Arg>His rs28933396 23andMe v1, 23andMe v2, 23andMe v3, 23andMe v4
46 c.7360C>T p.2454Arg>Cys rs193922816 Ancestry v2
46 c.7361G>A p.2454Arg>His rs118192122 Ancestry v2
46 c.7372C>T p.2458Arg>Cys rs28933397 23andMe v1, 23andMe v2, 23andMe v3, 23andMe v4, Ancestry v2
46 c.7373G>A p.2458Arg>His rs121918594 Ancestry v2
47 c.7522C>T p.2508Arg>Cys rs118192178
100 c.14387A>G p.4796Tyr>Cys rs118192167 Ancestry v2
100 c.14477C>T p.4826Thr>Ile rs121918595 Ancestry v2
101 c.14512C>G p.4838Leu>Val rs193922878 Ancestry v2
101 c.14582G>A p.4861Arg>His rs63749869 23andMe v3, 23andMe v4, Ancestry v2
102 c.14693T>C p.4898Ile>Thr rs118192170 Ancestry v2