一种人类PSEN1的cDNA,其编码区域的密码子发生改变,从甘氨酸(G384)变为异亮氨酸(A384),这种突变导致了G384A的变异。它被置于小鼠Thy1.2微基因的控制下。这种突变形式已知能增加β1-42的产生。(来源:J:92796, J:163811)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count