Mutations in ABCA7

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
TMD1,EL1 p.Glu  167 Lys details homologous mutations 1 1 1 D N ?
TMD1,EL1 p.Glu  188 Gly details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Ala  196 Pro details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Glu  255 Gln details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Glu  269 Asp details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Phe  315 Leu details homologous mutations 1 1 1 N D ?
TMD1,EL1 p.Glu  316 Lys details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Thr  319 Ala details homologous mutations 1 5 5 N N ?
TMD1,EL1 p.Gly  332 Glu details homologous mutations 1 1 1 N D ?
TMD1,EL1 p.His  395 Arg details homologous mutations 1 5 5 N N ?
TMD1,EL1 p.Leu  400 Val details homologous mutations 1 4 4 N N ?
TMD1,EL1 p.Gly  442 Arg details homologous mutations 1 1 1 D N ?
TMD1,EL1 p.Val  462 Met details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Arg  463 His details homologous mutations 1 5 5 D D ?
TMD1,EL1 p.Arg  475 Lys details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Pro  486 Ala details homologous mutations 1 1 1 N D ?
TMD1,EL1 p.Arg  512 Gly details homologous mutations 1 2 2 D D ?
TMD1,EL1 p.Arg  524 Trp details homologous mutations 1 1 1 D D ?
TMD1,CL1 p.Glu  574 Asp details homologous mutations 1 1 1 N D ?
TMD1,CL1 p.Ala  589 Gly details homologous mutations 1 1 1 N N ?
TMD1,TH3 p.Ser  598 Asn details homologous mutations 1 1 1 N N ?
TMD1,EL3 p.Asn  718 Thr details homologous mutations 1 4 4 N D ?
CL3 p.Asn  766 Asp details homologous mutations 1 1 1 N N ?
CL3,NBD1,WA1 p.Ala  845 Val details homologous mutations 1 1 1 N D ?
CL3,NBD1,WA1 p.Lys  847 Met details homologous mutations 1 3 3 D D ?
CL3,NBD1 p.Ala  877 Thr details homologous mutations 1 2 2 N N ?
CL3,NBD1 p.Gly  884 Ser details homologous mutations 1 1 1 N D ?
CL3,NBD1,SIG1 p.Ala  953 Asp details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Arg  976 Cys details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Arg  989 His details homologous mutations 1 1 1 D D ?
CL3 p.Arg 1090 Gln details homologous mutations 1 1 1 N N ?
CL3 p.Thr 1106 Met details homologous mutations 1 1 1 N N ?
TMD2,EL4 p.Trp 1336 Arg details homologous mutations 1 1 1 D D ?
TMD2,EL4 p.Ala 1441 Val details homologous mutations 1 1 1 N N ?
TMD2,EL4 p.Val 1487 Gly details homologous mutations 1 1 1 D D ?
TMD2,EL4 p.Arg 1489 Gln details homologous mutations 1 1 1 D N ?
TMD2,EL4 p.Arg 1496 Pro details homologous mutations 1 1 1 D D ?
TMD2,EL4 p.His 1506 Arg details homologous mutations 1 1 1 N N ?
TMD2,EL4 p.Gly 1527 Ala details homologous mutations 2 2 2 N N ?
TMD2,CL4 p.Arg 1561 Gln details homologous mutations 1 1 1 N D ?
TMD2,TH9 p.Val 1599 Met details homologous mutations 1 3 3 D N ?
TMD2,EL6 p.Gln 1686 Arg details homologous mutations 1 4 4 N N ?
TMD2,EL6 p.Arg 1715 Cys details homologous mutations 1 1 1 D D ?
CL6 p.Glu 1781 Asp details homologous mutations 1 1 1 N N ?
CL6 p.Arg 1782 Trp details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Arg 1812 His details homologous mutations 1 2 2 N D ?
CL6,NBD2 p.Pro 1819 Ala details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Gly 1820 Ser details homologous mutations 1 1 1 N D ?
CL6,NBD2,WA2 p.Lys 1833 Met details homologous mutations 1 3 3 D D ?
CL6,NBD2 p.Ser 1863 Arg details homologous mutations 1 1 1 N N ?
CL6,NBD2 p.Thr 1883 Met details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Pro 1952 Arg details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Met 1998 Thr details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Lys 2013 Gln details homologous mutations 1 1 1 N D ?
CL6 p.Glu 2108 Lys details homologous mutations 1 1 1 N N ?