In exon 7, the nucleotide sequence TTCTTCGGG was replaced with GGTACCCGG, changing the amino acids at position 342 from FFG to GTR to eliminate the MMP cleavage site. (J:97622)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count