GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00000778
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Other primates
Trait State in Taxon B
Catarrhines; Homo sapiens
Ancestral State
Data not curated
Taxonomic Status
Taxon A
Latin Name
Common Name
-
Synonyms
Primata; Primates Linnaeus, 1758
Rank
order
Lineage
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erostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
-
Synonyms
-
Rank
parvorder
Lineage
Show more ...
brata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
OPN1MW
Synonyms
GCP; GOP; OPN1MW
String
-
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
GO - Molecular Function
GO:0042802 : identical protein binding
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GO - Biological Process
GO - Cellular Component
GO:0005886 : plasma membrane
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Mutation #1
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
S116Y; S180A; I230T; A233S/T; Y277F; T285A; Y309F
according to an extensive mutagenesis study including a set of 28 chimeric proteins and an additional 30 single and multiple point mutants the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser 116Tyr Ser 180Ala Ile 230Thr Ala233Ser Tyr277Phe Thr285Ala and Tyr309Phe.
according to an extensive mutagenesis study including a set of 28 chimeric proteins and an additional 30 single and multiple point mutants the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser 116Tyr Ser 180Ala Ile 230Thr Ala233Ser Tyr277Phe Thr285Ala and Tyr309Phe.
Experimental Evidence
Taxon A | Taxon B | Position | |
---|---|---|---|
Codon | - | - | - |
Amino-acid | Ser | Tyr | 116 |
Authors
Asenjo AB; Rim J; Oprian DD
Abstract
The human red and green color vision pigments are identical at all but 15 of their 364 amino acids, and yet their absorption maxima differ by 31 nm. In an extensive mutagenesis study, including a set of 28 chimeric proteins modeled after pigments in the color-deficient human population and an additional 30 single and multiple point mutants, the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser116-->Tyr, Ser180-->Ala, Ile230-->Thr, Ala233-->Ser, Tyr277-->Phe, Thr285-->Ala, and Tyr309-->Phe.
Additional References
Mutation #2
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
S116Y; S180A; I230T; A233S/T; Y277F; T285A; Y309F
according to an extensive mutagenesis study including a set of 28 chimeric proteins and an additional 30 single and multiple point mutants the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser 116Tyr Ser 180Ala Ile 230Thr Ala233Ser Tyr277Phe Thr285Ala and Tyr309Phe.
according to an extensive mutagenesis study including a set of 28 chimeric proteins and an additional 30 single and multiple point mutants the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser 116Tyr Ser 180Ala Ile 230Thr Ala233Ser Tyr277Phe Thr285Ala and Tyr309Phe.
Experimental Evidence
Taxon A | Taxon B | Position | |
---|---|---|---|
Codon | - | - | - |
Amino-acid | Ser | Ala | 180 |
Authors
Asenjo AB; Rim J; Oprian DD
Abstract
The human red and green color vision pigments are identical at all but 15 of their 364 amino acids, and yet their absorption maxima differ by 31 nm. In an extensive mutagenesis study, including a set of 28 chimeric proteins modeled after pigments in the color-deficient human population and an additional 30 single and multiple point mutants, the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser116-->Tyr, Ser180-->Ala, Ile230-->Thr, Ala233-->Ser, Tyr277-->Phe, Thr285-->Ala, and Tyr309-->Phe.
Additional References
Mutation #3
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
S116Y; S180A; I230T; A233S/T; Y277F; T285A; Y309F
according to an extensive mutagenesis study including a set of 28 chimeric proteins and an additional 30 single and multiple point mutants the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser 116Tyr Ser 180Ala Ile 230Thr Ala233Ser Tyr277Phe Thr285Ala and Tyr309Phe.
according to an extensive mutagenesis study including a set of 28 chimeric proteins and an additional 30 single and multiple point mutants the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser 116Tyr Ser 180Ala Ile 230Thr Ala233Ser Tyr277Phe Thr285Ala and Tyr309Phe.
Experimental Evidence
Taxon A | Taxon B | Position | |
---|---|---|---|
Codon | - | - | - |
Amino-acid | Ile | Thr | 230 |
Authors
Asenjo AB; Rim J; Oprian DD
Abstract
The human red and green color vision pigments are identical at all but 15 of their 364 amino acids, and yet their absorption maxima differ by 31 nm. In an extensive mutagenesis study, including a set of 28 chimeric proteins modeled after pigments in the color-deficient human population and an additional 30 single and multiple point mutants, the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser116-->Tyr, Ser180-->Ala, Ile230-->Thr, Ala233-->Ser, Tyr277-->Phe, Thr285-->Ala, and Tyr309-->Phe.
Additional References
Mutation #4
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
S116Y; S180A; I230T; A233S/T; Y277F; T285A; Y309F
according to an extensive mutagenesis study including a set of 28 chimeric proteins and an additional 30 single and multiple point mutants the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser 116Tyr Ser 180Ala Ile 230Thr Ala233Ser Tyr277Phe Thr285Ala and Tyr309Phe.
according to an extensive mutagenesis study including a set of 28 chimeric proteins and an additional 30 single and multiple point mutants the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser 116Tyr Ser 180Ala Ile 230Thr Ala233Ser Tyr277Phe Thr285Ala and Tyr309Phe.
Experimental Evidence
Taxon A | Taxon B | Position | |
---|---|---|---|
Codon | - | - | - |
Amino-acid | Ala | Ser | 233 |
Authors
Asenjo AB; Rim J; Oprian DD
Abstract
The human red and green color vision pigments are identical at all but 15 of their 364 amino acids, and yet their absorption maxima differ by 31 nm. In an extensive mutagenesis study, including a set of 28 chimeric proteins modeled after pigments in the color-deficient human population and an additional 30 single and multiple point mutants, the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser116-->Tyr, Ser180-->Ala, Ile230-->Thr, Ala233-->Ser, Tyr277-->Phe, Thr285-->Ala, and Tyr309-->Phe.
Additional References
Mutation #5
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
S116Y; S180A; I230T; A233S/T; Y277F; T285A; Y309F
according to an extensive mutagenesis study including a set of 28 chimeric proteins and an additional 30 single and multiple point mutants the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser 116Tyr Ser 180Ala Ile 230Thr Ala233Ser Tyr277Phe Thr285Ala and Tyr309Phe.
according to an extensive mutagenesis study including a set of 28 chimeric proteins and an additional 30 single and multiple point mutants the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser 116Tyr Ser 180Ala Ile 230Thr Ala233Ser Tyr277Phe Thr285Ala and Tyr309Phe.
Experimental Evidence
Taxon A | Taxon B | Position | |
---|---|---|---|
Codon | - | - | - |
Amino-acid | Tyr | Phe | 277 |
Authors
Asenjo AB; Rim J; Oprian DD
Abstract
The human red and green color vision pigments are identical at all but 15 of their 364 amino acids, and yet their absorption maxima differ by 31 nm. In an extensive mutagenesis study, including a set of 28 chimeric proteins modeled after pigments in the color-deficient human population and an additional 30 single and multiple point mutants, the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser116-->Tyr, Ser180-->Ala, Ile230-->Thr, Ala233-->Ser, Tyr277-->Phe, Thr285-->Ala, and Tyr309-->Phe.
Additional References
Mutation #6
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
S116Y; S180A; I230T; A233S/T; Y277F; T285A; Y309F
according to an extensive mutagenesis study including a set of 28 chimeric proteins and an additional 30 single and multiple point mutants the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser 116Tyr Ser 180Ala Ile 230Thr Ala233Ser Tyr277Phe Thr285Ala and Tyr309Phe.
according to an extensive mutagenesis study including a set of 28 chimeric proteins and an additional 30 single and multiple point mutants the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser 116Tyr Ser 180Ala Ile 230Thr Ala233Ser Tyr277Phe Thr285Ala and Tyr309Phe.
Experimental Evidence
Taxon A | Taxon B | Position | |
---|---|---|---|
Codon | - | - | - |
Amino-acid | Thr | Ala | 285 |
Authors
Asenjo AB; Rim J; Oprian DD
Abstract
The human red and green color vision pigments are identical at all but 15 of their 364 amino acids, and yet their absorption maxima differ by 31 nm. In an extensive mutagenesis study, including a set of 28 chimeric proteins modeled after pigments in the color-deficient human population and an additional 30 single and multiple point mutants, the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser116-->Tyr, Ser180-->Ala, Ile230-->Thr, Ala233-->Ser, Tyr277-->Phe, Thr285-->Ala, and Tyr309-->Phe.
Additional References
Mutation #7
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
S116Y; S180A; I230T; A233S/T; Y277F; T285A; Y309F
according to an extensive mutagenesis study including a set of 28 chimeric proteins and an additional 30 single and multiple point mutants the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser 116Tyr Ser 180Ala Ile 230Thr Ala233Ser Tyr277Phe Thr285Ala and Tyr309Phe.
according to an extensive mutagenesis study including a set of 28 chimeric proteins and an additional 30 single and multiple point mutants the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser 116Tyr Ser 180Ala Ile 230Thr Ala233Ser Tyr277Phe Thr285Ala and Tyr309Phe.
Experimental Evidence
Taxon A | Taxon B | Position | |
---|---|---|---|
Codon | - | - | - |
Amino-acid | Tyr | Phe | 309 |
Authors
Asenjo AB; Rim J; Oprian DD
Abstract
The human red and green color vision pigments are identical at all but 15 of their 364 amino acids, and yet their absorption maxima differ by 31 nm. In an extensive mutagenesis study, including a set of 28 chimeric proteins modeled after pigments in the color-deficient human population and an additional 30 single and multiple point mutants, the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser116-->Tyr, Ser180-->Ala, Ile230-->Thr, Ala233-->Ser, Tyr277-->Phe, Thr285-->Ala, and Tyr309-->Phe.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
@SeveralMutationsWithEffect
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