Hedgehog Signaling Pathway Database
 
Human Mutations - shh
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
HP3   G A     G > R 31 N E1 SWISS:VAR_003619   8896572 9302262 Roessler, E.; Belloni, E.; Gaudenz, K.; Jay, P.; Berta, P.; Scherer, S. W.; Tsui, L.-C.; Muenke, M.Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nature Genet. 14: 357-360, 1996.
HP3 263 A T     D > V 88 N   SWISS:VAR_009163   11919111 10556296 Heussler, H. S.; Suri, M.; Young, I. D.; Muenke, M. Extreme variability of expression of a Sonic hedgehog mutation: attention difficulties and holoprosencephaly. Arch. Dis. Child. 86: 293-296, 2002.
HP3   C T     G > X 100 N       8896572 Roessler, E.; Belloni, E.; Gaudenz, K.; Jay, P.; Berta, P.; Scherer, S. W.; Tsui, L.-C.; Muenke, M. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nature Genet. 14: 357-360, 1996.
HPE3 sporadic         Q > H 100 N   SWISS:VAR_009164   10441331  
HP3   A T     K > X 105 N       8896572 Roessler, E.; Belloni, E.; Gaudenz, K.; Jay, P.; Berta, P.; Scherer, S. W.; Tsui, L.-C.; Muenke, M. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nature Genet. 14: 357-360, 1996.
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR         I > F 111 N   SWISS:VAR_017883   11471164 Nanni, L.; Ming, J. E.; Du, Y.; Hall, R. K.; Aldred, M.; Bankier, A.; Muenke, M. SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. Am. J. Med. Genet. 102: 1-10, 2001.
HPE3 familial         N > K 115 N   SWISS:VAR_009165   10556296  
HP3   T G     W > G 117 N   SWISS:VAR_003620   8896572 9302262 Roessler, E.; Belloni, E.; Gaudenz, K.; Jay, P.; Berta, P.; Scherer, S. W.; Tsui, L.-C.; Muenke, M. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nature Genet. 14: 357-360, 1996.
HP3   T C     W > R 117 N   SWISS:VAR_003621   8896572 9302262 Roessler, E.; Belloni, E.; Gaudenz, K.; Jay, P.; Berta, P.; Scherer, S. W.; Tsui, L.-C.; Muenke, M. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nature Genet. 14: 357-360, 1996.
HPE3 familial         E > Q 188 N   SWISS:VAR_009166   10441331  
HPE3 familial         D > N 222 N   SWISS:VAR_009167   10441331  
HP3   T A     V > E 224 N   SWISS:VAR_009168   9302262 Roessler, E.; Belloni, E.; Gaudenz, K.; Vargas, F.; Scherer, S. W.; Tsui, L.-C.; Muenke, M. Mutations in the C-terminal domain of Sonic hedgehog cause holoprosencephaly. Hum. Molec. Genet. 6: 1847-1853, 1997
HP3   G A     A > T 226 N       9302262 Roessler, E.; Belloni, E.; Gaudenz, K.; Vargas, F.; Scherer, S. W.; Tsui, L.-C.; Muenke, M. :
Mutations in the C-terminal domain of Sonic hedgehog cause holoprosencephaly. Hum. Molec. Genet. 6: 1847-1853, 1997                        
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
HPE3 familial         S > R 236 N   SWISS:VAR_009170   10556296  
HP3   G T     E > X 256         10556296 Nanni, L.; Ming, J. E.; Bocian, M.; Steinhaus, K.; Bianchi, D. W.; de Die-Smulders, C.; Giannotti, A.; Imaizumi, K.; Jones, K. L.; Del Campo, M.; Martin, R. A.; Meinecke, P.; Pierpont, M. E. M.; Robin, N. H.; Young, I. D.; Roessler, E.; Muenke, M. The mutational spectrum of the Sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum. Molec. Genet. 8: 2479-2488, 1999.
HP3   G T     E > X 284 N       9302262 Roessler, E.; Belloni, E.; Gaudenz, K.; Vargas, F.; Scherer, S. W.; Tsui, L.-C.; Muenke, M. Mutations in the C-terminal domain of Sonic hedgehog cause holoprosencephaly. Hum. Molec. Genet. 6: 1847-1853, 1997
HP3         G > D 290 N   SWISS:VAR_009172   10556296 Nanni, L.; Ming, J. E.; Bocian, M.; Steinhaus, K.; Bianchi, D. W.; de Die-Smulders, C.; Giannotti, A.; Imaizumi, K.; Jones, K. L.; Del Campo, M.; Martin, R. A.; Meinecke, P.; Pierpont, M. E. M.; Robin, N. H.; Young, I. D.; Roessler, E.; Muenke, M. The mutational spectrum of the Sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum. Molec. Genet. 8: 2479-2488, 1999.
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR         V > A 332           Garavelli, L.; Zanacca, C.; Caselli, G.; Banchini, G.; Dubourg, C.; David, V.; Odent, S.; Gurrieri, F.; Neri, G. Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. Am. J. Med. Genet. 127A: 93-95, 2004.
HPE3 sporadic         A > T 383 N   SWISS:VAR_009174   9302262  
HP3   G A     A > T 384 N       9302262 Roessler, E.; Belloni, E.; Gaudenz, K.; Vargas, F.; Scherer, S. W.; Tsui, L.-C.; Muenke, M. Mutations in the C-terminal domain of Sonic hedgehog cause holoprosencephaly. Hum. Molec. Genet. 6: 1847-1853, 1997
HP3   C G     P > A 424 N   SWISS:VAR_009176   10556296 Nanni, L.; Ming, J. E.; Bocian, M.; Steinhaus, K.; Bianchi, D. W.; de Die-Smulders, C.; Giannotti, A.; Imaizumi, K.; Jones, K. L.; Del Campo, M.; Martin, R. A.; Meinecke, P.; Pierpont, M. E. M.; Robin, N. H.; Young, I. D.; Roessler, E.; Muenke, M. The mutational spectrum of the Sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum. Molec. Genet. 8: 2479-2488, 1999.
HPE3 sporadic         S > L 436 N   SWISS:VAR_009177   10556296  
HP3       del21 RLLLTAA           9302262 Roessler, E.; Belloni, E.; Gaudenz, K.; Vargas, F.; Scherer, S. W.; Tsui, L.-C.; Muenke, M. Mutations in the C-terminal domain of Sonic hedgehog cause holoprosencephaly. Hum. Molec. Genet. 6: 1847-1853, 1997
HP3 1283_1291     del9             10556296 Nanni, L.; Ming, J. E.; Bocian, M.; Steinhaus, K.; Bianchi, D. W.; de Die-Smulders, C.; Giannotti, A.; Imaizumi, K.; Jones, K. L.; Del Campo, M.; Martin, R. A.; Meinecke, P.; Pierpont, M. E. M.; Robin, N. H.; Young, I. D.; Roessler, E.; Muenke, M. The mutational spectrum of the Sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum. Molec. Genet. 8: 2479-2488, 1999.
COLOBOMA, OCULAR 1353     del24               Schimmenti, L. A.; de la Cruz, J.; Lewis, R. A.; Karkera, J. D.; Manligas, G. S.; Roessler, E.; Muenke, M. Novel mutation in Sonic hedgehog in non-syndromic colobomatous microphthalmia. Am. J. Med. Genet. 116A: 215-221, 2003.
          S > S 190 S   DBSNP:rs9333633      
          G > G 210 S   DBSNP:rs9333634      
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
intronic 155096042 A G forward           DBSNP:rs13309024      
intronic 155096113 G T forward           DBSNP:rs6968409      
intronic 155096195 C G forward           DBSNP:rs13223141      
intronic 155096378 A C forward           DBSNP:rs13226052      
intronic 155097326 A G reverse           DBSNP:rs11576052      
intronic 155097412 G T forward           DBSNP:rs2237286      
intronic 155097471 A G reverse           DBSNP:rs9333631      
intronic 155097621 A G forward           DBSNP:rs1233553      
intronic 155097691 A T reverse           DBSNP:rs9333629      
intronic 155097809 C G reverse           DBSNP:rs9333628      
intronic 155097902 C T reverse           DBSNP:rs9333627      
intronic 155098050 A G reverse           DBSNP:rs9333626      
intronic 155098142 A G reverse           DBSNP:rs9333625      
intronic 155098147 G T reverse           DBSNP:rs9333624      
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
intronic 155098286 C T reverse           DBSNP:rs9333622      
intronic 155098355 A C forward           DBSNP:rs1233554      
intronic 155098421 C T reverse           DBSNP:rs9333620      
intronic 155098776 C T forward           DBSNP:rs1233555      
intronic 155098858 C T reverse           DBSNP:rs9333618      
intronic 155098890 A G forward           DBSNP:rs4716913      
intronic 155099460 A G reverse           DBSNP:rs9333614      
intronic 155099767 A G reverse           DBSNP:rs9333613      
intronic 155099802 A T reverse           DBSNP:rs9333612      
intronic 155099893 C T forward           DBSNP:rs1233556      
intronic 155100011 A C reverse           DBSNP:rs9333610      
intronic 155100424 C G reverse           DBSNP:rs9333609      
intronic 155100505 A C forward           DBSNP:rs7810847      
intronic 155100853 A C reverse           DBSNP:rs9333608      
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
intronic 155101046 G T reverse           DBSNP:rs9333606      
intronic 155101129 A C forward           DBSNP:rs1233557      
intronic 155101272 C G reverse           DBSNP:rs9333603      
intronic 155101339 A G reverse           DBSNP:rs9333602      
intronic 155102174 A C forward           DBSNP:rs13225867      
intronic 155102204 A C forward           DBSNP:rs13225885      
intronic 155102213 A C forward           DBSNP:rs13225891      
intronic 155102452 C T reverse           DBSNP:rs9333601      
intronic 155102571 C T reverse           DBSNP:rs9333600      
intronic 155102633 A C forward           DBSNP:rs1233561      
intronic 155103125 C T reverse           DBSNP:rs9333598      
intronic 155103453 A C reverse           DBSNP:rs9333597      
intronic 155103454 C T reverse           DBSNP:rs9333596      
intronic 155103575 A G forward           DBSNP:rs756884      
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

Last updated 28-Aug-2006

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