ABCMdb

PMID: 9490294

Nasonkin I, Illing M, Koehler MR, Schmid M, Molday RS, Weber BH
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.
Hum Genet. 1998 Jan;102(1):21-6., [PubMed]

Sentences

No. Mutations Sentence Comment

56 ABCA4 p.Leu2027Phe Subsequently, the disease-associated mobility shifts were sequenced and revealed the following: a G→A transition at nucleotide 2565 resulting in a stop at codon 855, a G→A transition at 3106 replacing the negatively charged glutamic acid with the positively charged lysine residue at codon 1036, an insertion of two bases, GT, at 3211 causing a frameshift at codon 1071 and leading to protein termination 11 amino acids further downstream, and finally a C→T transition at 6079 resulting in a leucine to phenylalanine change at codon 2027 (Fig.3, Table 1). Login to comment 79 ABCA4 p.Leu2027Phe ABCA4 p.Glu1036Lys The family numbers correspond to those of Weber et al. (1996) Family Base change at Exon Consequence nucleotide positiona 1 G3106A 3188 E1036K 1 C6007T 6007a I20231 6 3211insGTb 3188 S1071 frameshift 9 G2565A 2383 W855Stop 13 C6079Tb 6007a L2027F 16 6816+21C→T 6480a Silent polymorphism (?) Login to comment