ABCMdb

PMID: 25751400

van Leeuwen EM, Karssen LC, Deelen J, Isaacs A, Medina-Gomez C, Mbarek H, Kanterakis A, Trompet S, Postmus I, Verweij N, van Enckevort DJ, Huffman JE, White CC, Feitosa MF, Bartz TM, Manichaikul A, Joshi PK, Peloso GM, Deelen P, van Dijk F, Willemsen G, de Geus EJ, Milaneschi Y, Penninx BW, Francioli LC, Menelaou A, Pulit SL, Rivadeneira F, Hofman A, Oostra BA, Franco OH, Mateo Leach I, Beekman M, de Craen AJ, Uh HW, Trochet H, Hocking LJ, Porteous DJ, Sattar N, Packard CJ, Buckley BM, Brody JA, Bis JC, Rot
Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.
Nat Commun. 2015 Mar 9;6:6065. doi: 10.1038/ncomms7065., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCA6 p.Cys1359Arg We report the discovery of five novel associations at four loci (P value o6.61 10 4), including a rare missense variant in ABCA6 (rs77542162, p.Cys1359Arg, frequency 0.034), which is predicted to be deleterious. Login to comment 41 ABCA1 p.Cys1359Arg This missense variant changes the amino acid cysteine into arginine at position 1359 (Cys1359Arg) and is predicted to be damaging for the structure and function of the protein by Polyphen2 (ref. 12), MutationTaster13 and LRT14. Login to comment