ABCMdb

PMID: 12840658

Miller M, Rhyne J, Hamlette S, Birnbaum J, Rodriguez A
Genetics of HDL regulation in humans.
Curr Opin Lipidol. 2003 Jun;14(3):273-9., [PubMed]

Sentences

No. Mutations Sentence Comment

63 ABCA1 p.Pro85Leu FHA 648 C/T 4 P85L extracellular loop # 1 [72.] Login to comment 64 ABCA1 p.Arg219Lys ABCA1 p.Arg230Cys ABCA1 p.Ala255Thr TD 1051 G/A 7 R219K extracellular [67,68] FHA 1083 C/T 7 R230C extracellular [70] FHA 1158 G/A 8 A255T extracellular [75.] Login to comment 65 ABCA1 p.Arg282* TD 1210-1217 8bp del 9 277X truncation [65] TD 1239 C/T 9 R282X truncation [73.] Login to comment 66 ABCA1 p.Trp590Ser ABCA1 p.Ile883Met ABCA1 p.Gln597Arg ABCA1 p.Cys1477Arg ABCA1 p.Arg909* ABCA1 p.Lys776Asn ABCA1 p.Val825Ile ABCA1 p.Met1091Thr ABCA1 p.Thr929Ile ABCA1 p.Arg587Trp ABCA1 p.Asn935Ser ABCA1 p.Val771Met ABCA1 p.Ala937Val ABCA1 p.Glu1172Asp ABCA1 p.Val399Ala ABCA1 p.Arg1680Trp ABCA1 p.Asp1099Tyr ABCA1 p.Ser1506Leu ABCA1 p.Thr774Pro ABCA1 p.Asp1289Asn ABCA1 p.Ala1046Asp ABCA1 p.Leu1648Pro ABCA1 p.Ile1555Thr ABCA1 p.Asn1611Asp ABCA1 p.Ala1544Ser TD 1591 T/C 11 V399A extracellular [68] TD 1979 (110bpAlu Ins) 12 truncated truncation [60] TD/FHA 2154 C/T 14 R587W extracellular [67,69] TD 2164 G/C 14 W590S extracellular [61] TD 2185 A/G 14 Q597R extracellular [59,67] TD 2219 G/del 14 truncated, 635X truncated [60,61] FHA 2472-2474 3bp del 15 Del L693 TM domain #3 [59] phosphorylation 2706 G/A 16 V771M extracellular [68] 2715 A/C 16 T774P extracellular [68] 2723 G/C 16 K776N extracellular [68] 2868 G/A 17 V825I TM domain #6 [67,68] TD/FHA 3044 A/G 18 I883M cytoplasmic [68] phosphorylat site FHA 3120 C/T 19 R909X truncation [63,71] TD 3181 C/T 19 T929I cytoplasmic [62] TD 3199 A/G 19 N935S Walker A [61] TD 3205 C/T 19 A937V Walker A [61] TD 3532 C/A 22 A1046D cytoplasmic, Walker A/B [70] FHA 3667 T/C 23 M1091T cytoplasmic [63] 3690 G/T 23 D1099Y cytoplasmic [9] TD 3738 2bp del 23 1145X truncation [66] FHA 3911 G/C 24 E1172D linker/cytoplasmic [68] FHA 4242 4bp del 27 1297X truncated [64] TD 4260 G/A 27 D1289N linker cytoplasm [64,65] TD 4824 T/C 31 C1477R extracellular [59] TD 4912 C/T 32 S1506L extracellular loop #2 [71] TD 5025 ins A 34 A1544S?1552X truncation [70] 5059 T/C 34 I1555T extracellular loop #2 [67] 5155 G/A 35 R1587K extracellular loop #2 [68] FHA 5226 A/G 36 N1611D extracellular loop #2 [75..] 5338 T/C 36 L1648P extracellular loop #2 [67] TD 5443 C/T 37 R1680W cytoplasmic [74.] Login to comment 67 ABCA1 p.Asn1800His ABCA1 p.Arg1851* ABCA1 p.Ser1731Cys ABCA1 p.Phe2009Ser ABCA1 p.Arg2144* ABCA1 p.Pro2150Leu ABCA1 p.Arg2081Trp ABCA1 p.Lys1974Arg TD 3` deletion (intron 38) truncated truncation [61] 5587 C/G 38 S1731C extracellular [68] TD 5793 A/C 40 N1800H extracellular loop, sm [65] FHA 5946 C/T 41 R1851X truncation [75..] FHA 6068 del 42 del 1893-1894(E,D) cytoplasmic [63] TD 6152 (14bp Ins) (42-43) truncated truncation [67] 6316 A/G 44 K1974R cytoplasmic [67] 6421 T/C 45 F2009S cytoplasmic [9] TD 6636 C/T 47 R2081W cytoplasmic [64] FHA 6825 C/T 49 R2144X cytoplasmic [63] TD 6825 del C 49 2145X truncation [62] FHA 6844 C/T 49 P2150L cytoplasmic [62] 6898 C/T 49 P2168L cytoplasmic [67] TD CTC6952-4TT 49 2203X truncation [62] TD 6968 (4bp Ins) 49 2215X, truncated PDZ binding (cyto) [65] *Location in accordance with Santamaria-Fojo et al. (Proc Natl Acad Sci U S A 2000; 97:7987-7992). Login to comment