An A to T point substitution at base 1184 in exon 11 introduces a lysine to stop codon mutation at amino acid 325 (K325X), which is amino acid 326 in human. An FRT-flanked neomycin selection cassette was also introduced 3-prime of exon 11. (J:257248)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count