GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00002338
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
WT
Trait State in Taxon B
Lean meat ; Hyperthermia in homozygotes
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
pig
Synonyms
pig; pigs; swine; wild boar; Sus scrofa Linnaeus, 1758; Sus scrofus
Rank
species
Lineage
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ebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Suina; Suidae; Sus
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
pig
Synonyms
pig; pigs; swine; wild boar; Sus scrofa Linnaeus, 1758; Sus scrofus
Rank
species
Lineage
Show more ...
ebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Suina; Suidae; Sus
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
-
GENOTYPIC CHANGE
Generic Gene Name
Ryr1
Synonyms
R; s; Ryr; skrr; RYR-1; AI528790
String
Sequence Similarities
Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily.
GO - Molecular Function
GO:0005524 : ATP binding
... show more
GO - Biological Process
GO - Cellular Component
GO:0005886 : plasma membrane
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UniProtKB
Mus musculus
Mus musculus
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
p.R615C
Experimental Evidence
Taxon A | Taxon B | Position | |
---|---|---|---|
Codon | CGC | TGC | 1843 |
Amino-acid | Arg | Cys | 615 |
Main Reference
Authors
Fujii J; Otsu K; Zorzato F; de Leon S; Khanna VK; Weiler JE; O'Brien PJ; MacLennan DH
Abstract
Malignant hyperthermia (MH) causes neurological, liver, and kidney damage and death in humans and major economic losses in the swine industry. A single point mutation in the porcine gene for the skeletal muscle ryanodine receptor (ryr1) was found to be correlated with MH in five major breeds of lean, heavily muscled swine. Haplotyping suggests that the mutation in all five breeds has a common origin. Assuming that this is the causal mutation for MH, the development of a noninvasive diagnostic test will provide the basis for elimination of the MH gene or its controlled inclusion in swine breeding programs.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
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