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Table 1 Summary of mutations affecting correct splicing of the FGFR2 exon IIIc donor site

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]