| Mutations identified in MITF | |||||||
|---|---|---|---|---|---|---|---|
| Exon | Nucleotide | Amino acid | Functional domain | Zygosity | Sample | Primary/metastases | Histologic type |
| 2 | G259A | E87R | Activation domain 1 | Heterozygous | 4T | Metastases | N/A |
| 2 | A260G | E87R | Activation domain 1 | Heterozygous | 4T | Metastases | N/A |
| 2 | A260G | Splice site | Exon 2B donor splice site | Heterozygous | 4T | Metastases | N/A |
| 4 | T403G | L135V | Activation domain 1 | Heterozygous | 13T | Metastases | N/A |
| 4 | G426C | L142F | Activation domain 1 | Heterozygous | 127 | Primary | SSM |
| 7 | A/T (-3) | splice site | Basic helix loop helix (Basic domain) | Heterozygous | D196 | Primary | ALM |
| 8 | G712A | G244R | Helix loop helix (helix 2) | Heterozygous | 21T | Metastases | N/A |
| 9 | G1120A | D380N | Activation domain 3 | Heterozygous | 85T | Metastases | N/A |
| Mutations identified in SOX10 | |||||||
| Exon | Nucleotide | Amino acid | Functional domain | Zygosity | Sample | Primary/metastatic | Histologic type |
| 1 | C373T | Q125X | HMG box | Heterozygous | 47T | Metastases | N/A |
| 1 | 44-62del | Pro14fsX10 | Truncation before HMG domain | Heterozygous | 68T | Metastases | N/A |
| 1 | G128A | R43Q | HMG domain | LOH | AM141 | Primary | Mucosal |
| 3 | C1082T | A361V | TAD | LOH | MX41 | Primary | LMM |
| 3 | G1237A | G413S | TAD | LOH | MX4 | Primary | LMM |
| 3 | G1238A | G413D | TAD | Heterozygous | MX67 | Primary | LMM |
| 3 | C1240T | H414Y | TAD | Heterozygous | MX67 | Primary | LMM |
| 3 | C1271T | A424V | TAD | LOH | 114 | Primary | SSM |
| 3 | 1346-1353del | Ser449SerfsX66 | TAD | LOH | 59T | Metastases | N/A |
Exon number with nucleotide and amino acid change resulting from mutation. Nucleotide position refers to position within coding sequence, where position 1 corresponds to the first position of the start codon. Tumors 4T and MX67 contained two somatic alterations. In addition to the 16 nonsynonymous mutations recorded in the table, we detected 1 synonymous alteration. The splice site alteration in MITF was in position 3 of the donor site of exon 2B. A total number of 50 cutaneous melanoma tumors were used for the MITF and SOX10 studies, A total number of 26 primary tumors were used to screen for MITF mutations and a total number of 55 primary tumors were used to screen for SOX10 mutations. ALM, acral lentiginous melanoma, LMM, lentigo malignant melanoma, SSM, superficial spreading melanoma.