Table 2 SMO mutations in 12 sporadic and 19 NBCCS-associated KCOTs
From: Smoothened gene alterations in keratocystic odontogenic tumors
Histology | Sample ID | Exon/intron | Nucleotide definition | Amino acid definition | dbSNP rs# cluster ID | MAF | Class | Function |
|---|---|---|---|---|---|---|---|---|
S* | K1, K2, K4,K5, K6, K7,K8, K10, K11 | Exon 2 | c.T776A | p.Phe166Ile | — | — | Missense | Unknown |
S | K7 | Exon 3 | c.A862G | p. = (194)Glu | rs56334250 | 0.0266 | Synonymous | Polymorphism |
S | K4 | Exon 5 | c.T1281G | p.Val334Gly | — | — | Missense | Unknown |
S | K2, K3, K4, K5, K6, K7, K8, K9, K10, K11, K12 | Exon 6 | c.G1444C | p. = (388)Gly | rs2228617 | 0.2277 | Synonymous | Polymorphism |
N* | N1, N2, N3, N4, N5, N6, N7, N8, N9, N10, N11, N12, N13, N14, N15, N16, N17, N18, N19, | Exon 6 | c.G1444C | p. = (388)Gly | rs2228617 | 0.2277 | Synonymous | Polymorphism |
S | K1 | Exon 10 | c.G2049C | p.Ser590Thr | rs114406835 | 0.010 | Missense | Polymorphism |