The molecular lesion is a single G deletion at coding nucleotide 273 in exon 3 of the gene. The mutation causes a frameshift at the 91st amino acid and disrupt the 3rd and 4th Greek-key motifs of the encoded protein, producing a mutant protein with an unrelated peptide of 75 amino acids at the C-terminus. (J:250425)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count