rs104894914

badMag 8.5

This is a variant in the OPN1MW gene that changes a cysteine to an arginine.

Key Literature Trait Associations

Color Vision Deficiency

The C allele causes a Cys203Arg substitution in the green (medium-wave) opsin pigment, disrupting a conserved disulfide bond in the third transmembrane domain that is critical for proper protein folding and chromophore binding. Males hemizygous for this variant exhibit deuteranopia (green-blindness) or deuteranomaly. Winderickx et al. (1992) identified this mutation in affected males from families segregating X-linked color vision deficiency (N=9 families).

Gardner JC et al. “Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.” Human Mutation (2014)

Allele C

OR —

p —

N 22

Candidate gene study

European

Winderickx J et al. “Defective colour vision associated with a missense mutation in the human green visual pigment gene.” Nature Genetics 1(4):251-256 (1992)

Allele C

OR —

p —

Candidate gene study

“The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy”

Allele C

OR —

p —

N 213

Candidate gene study

multi-ancestry

“The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes”

Allele C

OR —

p —

N 50

Candidate gene study

European

“Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals”

Allele C

OR —

p —

Candidate gene study

European

“Gene conversion between red and defective green opsin gene in blue cone monochromacy”

Allele C

OR —

p —

Candidate gene study

European

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ClinVar annotation

Pathogenic

1 submitter7 publications

Cone monochromatism (BCM); Deuteranomaly (CBD)

View on ClinVar →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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