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CRISPR/Cas9 technology generated G to T change at position 584 (c.584G>T) resulting in an arginine to leucine substitution at amino acid 195 (p.R195L). This mutation is localized in helix D, which is in the peripheral area of the interface crevice, the domain involved in PRPH2 oligomerization. This is a variant found in a family with central areolar choroidal dystrophy. (J:342243)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
