GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00002323
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Equus caballus
Trait State in Taxon B
white American Standardbred
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
horse
Synonyms
Equus przewalskii f. caballus; Equus przewalskii forma caballus; horse; domestic horse; equine; Equus caballus Linnaeus, 1758
Rank
species
Lineage
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rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Perissodactyla; Equidae; Equus; Equus
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
horse
Synonyms
Equus przewalskii f. caballus; Equus przewalskii forma caballus; horse; domestic horse; equine; Equus caballus Linnaeus, 1758
Rank
species
Lineage
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rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Perissodactyla; Equidae; Equus; Equus
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
-
GENOTYPIC CHANGE
Generic Gene Name
Mitf
Synonyms
Wh; bw; mi; vit; BCC2; Bhlhe32; Gsfbcc2; Vitiligo; Bw; Mi; Vit
String
Sequence Similarities
Belongs to the MiT/TFE family.
GO - Molecular Function
GO:0046983 : protein dimerization activity
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GO - Biological Process
GO:0043066 : negative regulation of apoptotic process
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GO - Cellular Component
GO:0005634 : nucleus
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UniProtKB
Mus musculus
Mus musculus
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.731G>A p.G244E
Experimental Evidence
Taxon A | Taxon B | Position | |
---|---|---|---|
Codon | - | - | - |
Amino-acid | Gly | Glu | 244 |
Authors
Dürig N; Jude R; Jagannathan V; Leeb T
Abstract
-
Additional References
RELATED GEPHE
EXTERNAL LINKS
COMMENTS
@Parallelism https://omia.org/OMIA000214/9796/
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