ABCMdb

PMID: 19339744

Singh HP, Jalali S, Narayanan R, Kannabiran C
Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.
Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4065-71. Epub 2009 Apr 1., [PubMed]

Sentences

No. Mutations Sentence Comment

117 ABCA4 p.Met1419Thr This change leads to premature truncation of the ABCA4 protein and is predicted to result in complete loss of two ATP binding domains: partial loss of the first and second transmembrane domains.8 Among the other variants found in ABCA4, one novel missense change Met1419Thr (c.4256TϾC) was found (Table 3) that leads to abolition of one of the restriction sites for NlaIII in the 229-bp PCR product of exon 29 of ABCA4. Login to comment 119 ABCA4 p.Met1419Thr Five (4.8%) of 105 control individuals were heterozygous for Met1419Thr, suggesting that it is a polymorphic variant. Login to comment 130 ABCA4 p.Met1419Thr Novel Changes of Unknown Significance Identified in Families with ARRP Family Gene Location Change in cDNA, Protein RP126 CRB1 Exon 8 c.2715GϾA, p.Arg905Arg RP213 ABCA4 Exon 29 c.4256TϾC, p.Met1419Thr RP119 PDE6B Intron 10 c.1401ϩ31CϾA RP119 PDE6B Intron 17 c.2130-15GϾA RP160 RGR Exon 2 c.123CϾT, p.Phe41Phe RP184 RGR Intron 6 c.760-38CϾT FIGURE 1. Login to comment