ABCA4 p.Arg219*
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PMID: 19352439
[PubMed]
Xi Q et al: "Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease."
No.
Sentence
Comment
114
An A to T change in exon 6 (c.655A>T) resulted in a stop codon and thus generated a mutant ABCR protein (p.R219X; Figure 3A for wild type and Figure 3D for mutant sequence).
X
ABCA4 p.Arg219* 19352439:114:107
status: NEW