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)ConsequenceHGVSpExondbSNPSIFTPolyPhenCADD PHRED

c.3 G > AStart lostp.Met12rs105751769800.0924
c.199 C > GMissensep.His67Asp3rs75420005700.99826.3
c.211 C > TMissensep.Arg71Cys3rs7585407590126.1
c.212 G > CMissensep.Arg71Pro3rs7708966770132
c.1151 G > AMissensep.Gly384Glu800.99929.3
c.1462delAFrameshiftp.Arg488GlufsTer611rs1057517696
c.1686_1701delFrameshiftp.Phe562LeufsTer812
c.1959_1960insTTFrameshiftp.Arg654LeufsTer614rs1057519417
c.2183 T > AStop gainedp.Leu728Ter1440
c.2521dupAFrameshiftp.Ile841AsnfsTer414
c.2617 C > TStop gainedp.Gln873Ter14rs105751769737

Mutations are arranged according to position on the protein.