Case Report
A Report on a Family with TMTC3-Related Syndrome and Review
Table 2
Comparison of TMTC3 mutations reported in literature.
| Mutation (NM_181783.4) | Consequence | HGVSp | Exon | dbSNP | SIFT | PolyPhen | CADD PHRED |
| c.3 G > A | Start lost | p.Met1 | 2 | rs1057517698 | 0 | 0.09 | 24 | c.199 C > G | Missense | p.His67Asp | 3 | rs754200057 | 0 | 0.998 | 26.3 | c.211 C > T | Missense | p.Arg71Cys | 3 | rs758540759 | 0 | 1 | 26.1 | c.212 G > C | Missense | p.Arg71Pro | 3 | rs770896677 | 0 | 1 | 32 | c.1151 G > A | Missense | p.Gly384Glu | 8 | − | 0 | 0.999 | 29.3 | c.1462delA | Frameshift | p.Arg488GlufsTer6 | 11 | rs1057517696 | − | − | − | c.1686_1701del | Frameshift | p.Phe562LeufsTer8 | 12 | − | − | − | − | c.1959_1960insTT | Frameshift | p.Arg654LeufsTer6 | 14 | rs1057519417 | − | − | − | c.2183 T > A | Stop gained | p.Leu728Ter | 14 | − | − | − | 40 | c.2521dupA | Frameshift | p.Ile841AsnfsTer4 | 14 | − | − | − | − | c.2617 C > T | Stop gained | p.Gln873Ter | 14 | rs1057517697 | − | − | 37 |
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Mutations are arranged according to position on the protein.
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