The active site (P1) Arg38020 (codon AGA) of Serpinb2 was changed to Ala380 (codon GCA); i.e. nucleotides 1222 and 1223 (with reference to accession NM_011111.4) were changed from AG to GC. Two silent mutations were also introduced to prevent cutting of the oligonucleotide during genome editing. (J:286308)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count