ABCA1 p.Glu1550Lys
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PMID: 21444760
[PubMed]
Leduc MS et al: "The mouse QTL map helps interpret human genome-wide association studies for HDL cholesterol."
No.
Sentence
Comment
84
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).
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ABCA1 p.Glu1550Lys 21444760:84:130
status: NEW162 E1550K was predicted to be damaging.
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ABCA1 p.Glu1550Lys 21444760:162:0
status: NEW198 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.
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ABCA1 p.Glu1550Lys 21444760:198:245
status: NEW82 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).
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ABCA1 p.Glu1550Lys 21444760:82:130
status: NEW160 E1550K was predicted to be damaging.
X
ABCA1 p.Glu1550Lys 21444760:160:0
status: NEW196 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.
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ABCA1 p.Glu1550Lys 21444760:196:245
status: NEW