Table 1. Tabulation of multiple nucleotide mutations that include position 755, which were reported previously or are described here.
Nucleotides | Amino acids | Phenotype | Ref(s). |
---|---|---|---|
755_756CGG>TT | Ser252Phe | Apert syndrome | 26, 28 |
755_756CG>TC | Ser252Phe | Apert syndrome | 17, this work |
755_757CGC>TCT | Ser252Phe; Pro253Ser | Pfeiffer syndrome | 26 |
755C>T; 943G>T | Ser252Leu; Ala315Ser | Syndactyly | 29, this work |
755_756CG>AC | Ser252Tyr | Not reported | This work |