ABCMdb

PMID: 12850230

Hu X, Plomp AS, van Soest S, Wijnholds J, de Jong PT, Bergen AA
Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update.
Surv Ophthalmol. 2003 Jul-Aug;48(4):424-38., [PubMed]

Sentences

No. Mutations Sentence Comment

179 ABCC6 p.Arg1141* The R1141X mutation in exon 24 was reported by four research groups and appears to be a common mutation underlying PXE. Login to comment 180 ABCC6 p.Arg1141* R1141X generates a stop codon at cDNA position 3421 and presumably results in a reduction in mutant mRNA levels by nonsense-mediated RNA decay.25,69 Mutations appear to be also frequent in exons 28-30, corresponding to the NBF2 region, where the function of the protein might be abolished by the change in a single amino acid. Login to comment 193 ABCC6 p.Arg1141* ABCC6 p.Arg1138Gln ABCC6 p.Arg1138Trp ABCC6 p.Arg1164* ABCC6 p.Arg518Gln ABCC6 p.Arg1114Pro ABCC6 p.Ala455Pro ABCC6 p.Arg1314Trp ABCC6 p.Arg518* ABCC6 p.Gln378* ABCC6 p.Gln1347His ABCC6 p.Phe568Ser ABCC6 p.Arg1398* ABCC6 p.Gly1321Ser ABCC6 p.Gly1302Arg ABCC6 p.Arg765Gln ABCC6 p.Val1298Phe ABCC6 p.Ser1121Trp ABCC6 p.Arg1030* ABCC6 p.Arg1339Cys ABCC6 p.Gln1237* ABCC6 p.Gly1203Asp ABCC6 p.Ala1303Pro ABCC6 p.Leu673Pro ABCC6 p.Asn411Lys ABCC6 p.Arg1138Pro ABCC6 p.Arg1314Gln ABCC6 p.Asp1361Asn ABCC6 p.Tyr768* ABCC6 p.Thr364Arg ABCC6 p.Gly1354Arg TABLE 3 Summary of ABCC6 Mutations in PXE Patients Mutation Protein Alteration Nucleotide Substitution Location Reference Nonsense Q378X 1132C Ͼ T Exon 9 16,107 R518X 1552C Ͼ T Exon 12 88 Y768X 2304C Ͼ A Exon 18 67 R1030X 3088C Ͼ T Exon 23 67 R1141X 3421C Ͼ T Exon 24 12,45,67,107,111,112,133 R1164X 3490C Ͼ T Exon 24 88,112 Q1237X 3709C Ͼ T Exon 26 67 R1398X 4192C Ͼ T Exon 29 67 Missense T364R 1091C Ͼ G Exon 9 107 N411K 1233T Ͼ G Exon 10 67 A455P 1363G Ͼ C Exon 11 142 R518Q 1553G Ͼ A Exon 12 67,142 F568S 1703T Ͼ C Exon 13 67 L673P 2018T Ͼ C Exon 16 67 R765Q 2294G Ͼ A Exon 18 67 R1114P 3341G Ͼ C Exon 24 67 S1121W 3362C Ͼ G Exon 24 67 R1138W 3412C Ͼ T Exon 24 111 R1138Q 3413G Ͼ A Exon 24 67,111 R1138P 3413G Ͼ C Exon 24 67 G1203D 3608G Ͼ A Exon 25 67 V1298F 3892G Ͼ T Exon 28 67 T13011 3902C Ͼ T Exon 28 67 G1302R 3904G Ͼ A Exon 28 67 A1303P 3907G Ͼ C Exon 28 67 R1314W 3940C Ͼ T Exon 28 67 R1314Q 3941G Ͼ A Exon 28 67 G1321S 3961G Ͼ A Exon 28 67 R1339C 4015C Ͼ T Exon 28 67,133 Q1347H 4041G Ͼ C Exon 28 67 G1354R 4060G Ͼ C Exon 29 107,142 D1361N 4081G Ͼ A Exon 29 67 11424T 4271T Ͼ C Exon 30 67 Frameshift Splicing IVS21 ϩ 1G ϾT Intron 21 67,142 IVS26-1G ϾA Intron 26 67,111,112 Deletion 179del9 Exon 2 107 179-195del Exon 2 67 960delC Exon 8 88 1944del22 Exon 16 12 1995delG Exon 16 67 2322delC Exon 18 67 2542delG Exon 19 67 3775delT Exon 27 12,67 4101delC Exon 29 67 Insertion 938-939insT Exon 8 67 4220insAGAA Exon 30 12 Intragenic deletion Exon 23-29 67,112 Exon 15 67 Intergenic deletion ABCC6 12,88 LOCAL RETINAL TRANSPORT FUNCTION OF ABCC6 ABCC6 Expression in the Retina Bergen et al detected ABCC6 expression in various tissues in man.12 Low expression levels of ABCC6 were observed in the retina as well as other tissues usually affected by PXE, including skin and vessel wall. Login to comment