cDNA and amino-acid sequences of human microphthalmia-associated transcription factor (MITF)-M and MITF-Mdel. (A) Alignment of mRNA sequences of MITF-M and MITF-Mdel. MITF-Mdel contains 168-bp and 18-bp in-frame deletions at mRNA level. (B) Alignment of predicted protein sequences of MITF-M and MITF-Mdel. MITF-Mdel is predicted to encompass 357 amino acids. The underlined portion marks the basic-helix-loop-helix domain. Compared with MITF-M, MITF-Mdel has deletions of 56-amino acid (from V32 to E87) in exon 2 and 6-amino acid (from A187 to T192) in exon 6. Dash lines represent deletions. Red highlighting indicates alternate exons. Green highlighting indicates amino acids encoded across a splice junction.