GEPHE SUMMARY Print
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
Show more ... 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
Mutation #1
Presumptive Null
No
Molecular Type
Aberration Type
SNP
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.
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.
Mutation #2
Presumptive Null
No
Molecular Type
Aberration Type
SNP
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.
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.
Mutation #3
Presumptive Null
No
Molecular Type
Aberration Type
SNP
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.
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.
Mutation #4
Presumptive Null
No
Molecular Type
Aberration Type
SNP
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.
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.
Mutation #5
Presumptive Null
No
Molecular Type
Aberration Type
SNP
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.
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.
Mutation #6
Presumptive Null
No
Molecular Type
Aberration Type
SNP
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.
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.
Mutation #7
Presumptive Null
No
Molecular Type
Aberration Type
SNP
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.
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.
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
@SeveralMutationsWithEffect
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