ABCMdb

PMID: 11427982

Uitto J, Pulkkinen L, Ringpfeil F
Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?
Trends Mol Med. 2001 Jan;7(1):13-7., [PubMed]

Sentences

No. Mutations Sentence Comment

68 ABCC6 p.Arg1141* A particularly common mutation appears to be R1141X, which has been independently described in families of various ethnic backgrounds10-13,17. Login to comment 75 ABCC6 p.Arg1141* ABCC6 p.Arg1138Gln ABCC6 p.Arg1138Trp ABCC6 p.Arg1164* ABCC6 p.Arg518Gln ABCC6 p.Arg1114Pro ABCC6 p.Ala455Pro ABCC6 p.Arg1314Trp Thisraisesthequestionoftherelationshipbetweenthe MRP6mutationsandthemanifestationsinPXE affectingtheelasticfibersinvariousorgans.Itmaywell Opinion CR1339C G1345R TRENDS in Molecular Medicine 10 kb NBF2NBF1 0.5 kb Extracellular Intracellular GS 5' 3' R1138Q R1164X R1141X R1138W 2787+1G T A455P R518Q R1114P R1314W (a) (b) (c) EcoRI SmaI SmaI SmaI SacI SacI SmaI N GS 2542delG 1944del22 4220insAGAA 3775delT 3736-1G A Fig. 3. Login to comment 94 ABCC6 p.Arg1138Trp Evaluation of the probands revealed that they were both homozygous for a missense mutation R1138W affecting a critical amino-acid residue within an intracellular loop of the third transmembrane segment of MRP6 (Ref. 10). Login to comment