Point mutations were inserted in exons 14 and 16 at codons 783, 843, anf 863 which changed the encoded amino acids from tyrosine to phenylalanine. (J:198790)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count