From: Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome
Mutation | Protein | Proposed effect | Experimental demonstration | Reference |
---|---|---|---|---|
c.1032G>A | p.(Ala344Ala) | Activation of cryptic splice site | Yes | Reardon et al. 1994 [6]; Li et al. 1995 [21]; Del Gatto & Breathnach 1995 [22] |
c.1083A>G | p.(Pro361Pro) | Loss of normal donor site with use of alternative cryptic splice site | Yes | This study |
c.1083A>T | p.(Pro361Pro) | As above | Yes | This study |
c.1084G>T | p.(Ala362Ser) | Annotated as missense but likely to affect splicing | No | Everett et al. 1999 [20] |
c.1084+3A>G | - | Loss of normal donor site with use of alternative cryptic splice site | Yes | Kan et al. 2004 [17] |
c.1084+3A>C | - | Loss of normal donor site with use of alternative cryptic splice site | No | Cornejo-Roldan, Roessler & Muenke 1999 [23]; Kress et al. 2000 [24] |