Identification of two rare variants (G-->A at nucleotide 721; C-->T at nucleotide 5200) in the rhodopsin gene. Mutations in brief no. 187. Online.
The authors report two new rare DNA sequence variants in the Rhodopsin gene. This gene is involved in the pathogenesis of some retinal hereditary disorders as Retinitis Pigmentosa. These rare variants are G-->A at nucleotide 721 of the non-coding region and C-->T at nucleotide 5200 within codon 323 which does not alter the aminoacid cysteine. Therefore, they are not implicated in the development of the Retinitis Pigmentosa disease.
Trujillo
M J
MJ
Genetics Department. Fundación Diaz. Madrid. genetical@uni.fjd.es
Millán
J M
JM
Nájera
C
C
Beneyto
M
M
García-Sandoval
B
B
Rodriguez de Alba
M
M
Sanz
R
R
Ayuso
C
C
D000225:Adenine; D003596:Cytosine; D006147:Guanine; D006801:Humans; D017354:Point Mutation / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics; D012243:Rhodopsin / Q000235:genetics*; D013941:Thymine
D006147:Guanine; D003596:Cytosine; D012243:Rhodopsin; D000225:Adenine; D013941:Thymine