Mmp14^m1Btlr

The mutation is a T-to-C transition at nucleotide position 1642 (Genbank Accession NM_008608) resulting in replacement of serine by proline at amino acid position 422 of the protein (S422P), near the middle of the hemopexin-like domain, which is involved in homodimer formation and mediates association with and cleavage of CD44. (J:133626)