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GENATLAS PHENOTYPE

last update : 01/07/2008

Symbol	CBBM1
Location	Xq28
Name	colorblindness blue cone monochromatism 1
Corresponding gene	OPN1MW , OPN1LW
Main clinical features	poor central vision and color discrimination, infantile nystagmus, and nearly normal retinal appearance
Genetic determination	sex linked
Function/system disorder	eye
Type	disease

Gene product

Name	opsin 1 (cone pigments), medium-wave-sensitive, and long-wave-sensitive

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		abnormal protein/loss of function	red/green gene array rearrangement existing of a single red/green hybrid gene and an inactivating C203R point mutation in OPN1MW

Remark(s)

C203R mutation in both OPN1MW and OPN1LW can also cause blue cone monochromatism