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A spontaneous G-to-C transversion in exon 9 causes a glycine to alanine substitution at amino acid 353 (p.G353A), an evolutionarily conserved residue. This glycine is mutated in at least one family with gyrate atrophy of the choroid and retina. (J:213842, J:222308)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
