Cd40lg^m1Btlr

The mutation has been identified as a T to C transition at nucleotide position 673 of the transcript (NM_011616.2 from NCBI Build 37.1), in the last of the gene's 5 exons. It is predicted to result in replacement of serine by proline at amino acid position 221 of the protein, in the tumor necrosis factor (TNF)-like extracellular region. (J:162147)