A human BAC clone was used as the transgene vector. An A to G transition was engineered into the BAC to change the AGT serine codon for amino acid residue 662 to a GGT glycine codon. (J:126404)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count