Hedgehog Signaling Pathway Database
 
Human Mutations - smo
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
BCC         W > L 535         9422511 "Xie, J.; Murone, M.; Luoh, S.-M.; Ryan, A.; Gu, Q.; Zhang, C.; Bonifas, J. M.; Lam, C.-W.; Hynes, M.; Goddard, A.; Rosenthal, A.; Epstein, E. H., Jr.; de Sauvage, F. J. Activating Smoothened mutations in sporadic basal-cell carcinoma. Nature 391: 90-92, 1998. "
BCC         R > Q 562         9422511 "Xie, J.; Murone, M.; Luoh, S.-M.; Ryan, A.; Gu, Q.; Zhang, C.; Bonifas, J. M.; Lam, C.-W.; Hynes, M.; Goddard, A.; Rosenthal, A.; Epstein, E. H., Jr.; de Sauvage, F. J. :
Activating Smoothened mutations in sporadic basal-cell carcinoma. Nature 391: 90-92, 1998. "                        

Last updated 28-Aug-2006

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