Two point mutations in exon 10, converting Serine 388 in an Alanine residue. Residual LoxP site between exon 8 and 9 due to removal of neomycin resistance cassette. (J:82809)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count