ABCMdb

PMID: 21444760

Leduc MS, Lyons M, Darvishi K, Walsh K, Sheehan S, Amend S, Cox A, Orho-Melander M, Kathiresan S, Paigen B, Korstanje R
The mouse QTL map helps interpret human genome-wide association studies for HDL cholesterol.
J Lipid Res. 2011 Jun;52(6):1139-49. Epub 2011 Mar 28., [PubMed]

Sentences

No. Mutations Sentence Comment

82 ABCA1 p.Glu1550Lys For PERA crosses, we identified eight polymorphisms that changed amino acids between PERA and the strains I and D2; one of these, E1550K, was damaging according to Polyphen (Table 1 and supplementary Table IX). Login to comment 84 ABCA1 p.Glu1550Lys For PERA crosses, we identified eight polymorphisms that changed amino acids between PERA and the strains I and D2; one of these, E1550K, was damaging according to Polyphen (Table 1 and supplementary Table IX). Login to comment 160 ABCA1 p.Glu1550Lys E1550K was predicted to be damaging. Login to comment 162 ABCA1 p.Glu1550Lys E1550K was predicted to be damaging. Login to comment 196 ABCA1 p.Glu1550Lys ABCA1 p.Ile691Val ABCA1 p.Asn1889Thr Known HDL gene Abca1 D2xCAST HF M +1.67(<0.001) T251I Polarity No No V343M No No No S658G No No No I691V No No Yes N1889T No No Yes CASTx129 HF M +1.56 (<0.001) PERAxI HF F +1.15 (0.165) S658G No No No PERAxD2 HF F +1.05 (0.542) V1291I No No No E1550K Polarity and charge Yes Yes T1565N No No No Unknown HDL gene Galnt2 B6xCASAa C F -1.27 (0.010) None - - - Wwox B6xCAST C F afa;1.16 (0.342) V186M No Yes (SIFT) No Cdh13 B6xCAST C F +1.16 (0.052) N56S No No No Y214F Polarity Yes (SIFT) Yes I660M No No Yes HF, high-fat diet; C, chow diet; M, male; F, female. a Bold indicates the high allele strain. Login to comment 198 ABCA1 p.Glu1550Lys ABCA1 p.Ile691Val ABCA1 p.Asn1889Thr Known HDL gene Abca1 D2xCAST HF M +1.67(<0.001) T251I Polarity No No V343M No No No S658G No No No I691V No No Yes N1889T No No Yes CASTx129 HF M +1.56 (<0.001) PERAxI HF F +1.15 (0.165) S658G No No No PERAxD2 HF F +1.05 (0.542) V1291I No No No E1550K Polarity and charge Yes Yes T1565N No No No Unknown HDL gene Galnt2 B6xCASAa C F -1.27 (0.010) None - - - Wwox B6xCAST C F -1.16 (0.342) V186M No Yes (SIFT) No Cdh13 B6xCAST C F +1.16 (0.052) N56S No No No Y214F Polarity Yes (SIFT) Yes I660M No No Yes HF, high-fat diet; C, chow diet; M, male; F, female. a Bold indicates the high allele strain. Login to comment