The DNA sequence in exon 9 encoding amino acid residues 390-396 (NRLSIGE) were modified to change these amino acids to a series of 7 alanines. This removes the alpha-m-beta-2 binding motif. (J:90908)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count