SMAD4 Database

  • Reference sequences were NC_000018.9 and NM_005359.5. cDNA number 1 is the "A" of the start codon.
  • Frameshift is documented by the original amino acid followed by the codon number and "fs" (ex. Leu159 fs).
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  • "Live Search" any term in the search box, such as "exon" , "missense", "benign" , etc...
  • Disease abbreviations are Juvenile Polyposis Syndrome (JP), Hereditary Hemorrhagic Telangiectasia (HHT), and the combined syndrome (JP/HHT).


88 variants found

Genomic Position Location Mutation Type Nucleotide Change Protein Change Classification Phenotype References Comments
48556583 Large Deletion c.-17093-?_1659+?del Deletion of
entire gene
Pathogenic JP Aretz (2007)
48573604 Exon 3 Indel c.189_197del
ins44
p.Thr63fs Pathogenic JP Woodford-Richens (2001)
48575109 Exon 4 Nonsense c.302G>A p.Trp101X Pathogenic JP/HHT Gallione (2010)
48575159 Exon 4 Silent c.354G>A p.Ala118Ala Benign JP Pyatt (2006)
48575178 Exon 4 Insertion c.373_4insAT p.Ser125fs Pathogenic JP Calva-Cerqueira (2009)
48575180 Exon 4 Duplication c.375dup7 p.Val128fs Pathogenic JP Handra-Luca (2005)
48575209 Exon 4 Nonsense c.403C>T p.Arg135X Pathogenic JP Alazzouzi (2005)
48575231 Intron 4 Splice Site c.424+1G>A Pathogenic JP Woodford-Richens (2001)
48575658 Intron 4 Splice Site c.425-6A>G Pathogenic JP Aretz (2007)
48575669 Exon 5 Deletion c.430_431delTC p.Ser144fs Pathogenic JP Pyatt (2006)
48575676 Exon 6 Nonsense c.437T>A p.Leu146X Pathogenic JP Aretz (2007)
48581211 Exon 6 Deletion c.516_527del p.Leu172fs Pathogenic JP Woodford-Richens (2000)
48581228 Exon 6 Nonsense c.533C>G p.Ser178X Pathogenic JP Roth (1999)
48581233 Exon 6 Nonsense c.538C>T p.Gln180X Pathogenic JP Woodford-Richens (2001)
48581303 Exon 6 Deletion c.608delC p.Pro203fs Pathogenic JP Sayed (2002)
48584494 Exon 7 Large Deletion c.668-?_1659+?del Deletion of
coding eXons 7-13
Pathogenic JP Aretz (2007)
48584495 Exon 7 Insertion c.687insG p.Leu229fs Pathogenic JP Howe (1998)
48584520 Exon 7 Duplication c.692dupG p.Ser232fs Pathogenic JP/HHT Gallione (2010)
48584555 Exon 7 Insertion c.729_730insCCGC p.Pro244fs Pathogenic JP Pyatt (2006)
48584677 Intron 7 c.788-32A>T Benign JP Sweet (2005)
48584709 Exon 8 Large Deletion c.788-?_1659+?del Deletion of
coding eXons 8-13
Pathogenic JP Aretz (2007)
48584748 Exon 8 Deletion c.829_830delAC p.Thr276fs Pathogenic JP Friedl (1999)
48584750 Exon 8 Deletion c.831_832delAC p.Pro278fs Pathogenic JP Friedl (2002)
48586183 Intron 8 c.905-52A>G Benign JP Unpublished ARUP data
48586255 Exon 9 Duplication c.925_9298dupGCAT p.Phe310fs Pathogenic JP Pyatt (2006)
48591808 Exon 10 Missense c.970T>C p.Cys324Arg Pathogenic JP van Hattem (2008)
48591809 Exon 10 Deletion c.971delG p.Cys324fs Pathogenic JP van Hattem (2008)
48591818 Exon 10 Insertion c.982_983insT p.Tyr328fs Pathogenic JP Pyatt (2006)
48591824 Exon 10 Missense c.988G>A p.Glu330Lys Pathogenic JP and JP/HHT Alazzouzi (2005)
48591825 Exon 10 Missense c.989A>G p.Glu330Gly Pathogenic JP Sayed (2002)
48591873 Exon 10 Deletion c.1037delC p.Pro346fs Pathogenic JP Sayed (2002)
48591878 Exon 10 Deletion c.1042delGT p.Val348fs Pathogenic JP Howe (1998)
48591890 Exon 10 Missense c.1054G>A p.Gly352Arg Pathogenic JP and JP/HHT Sayed (2002)
48591893 Exon 10 Missense c.1055G>A p.Gly352Glu Pathogenic JP/HHT Gallione (2010)
48591894 Exon 10 Missense c.1058A>C p.Tyr353Ser Pathogenic JP Roth (1999)
48591917 Exon 10 Missense c.1081C>A p.Arg361Ser Pathogenic JP Howe (2004)
48591917 Exon 10 Missense c.1081C>G p.Arg361Gly Pathogenic JP and JP/HHT Gallione (2004)
48591917 Exon 10 Missense c.1081C>T p.Arg361Cys Pathogenic JP, JP/HHT, and HHT Houlston (1998)
48591918 Exon 10 Missense c.1082G>A p.Arg361His Pathogenic JP and JP/HHT Kim (2000)
48591920 Exon 10 Missense c.1082G>T p.Arg361Leu Pathogenic JP/HHT Gallione (2010)
48591923 Exon 10 Missense c.1087T>C p.Cys363Arg Pathogenic JP Aretz (2007)
48591924 Exon 10 Deletion c.1088_1090delGTT p.Cys363del Pathogenic JP/HHT Pyatt (2006)
48591927 Exon 10 Missense c.1091T>G p.Leu364Trp Pathogenic JP and JP/HHT Pyatt (2006)
48591940 Exon 10 Deletion c.1102_1103delTC p.Ser368fs Pathogenic JP/HHT Gallione (2010)
48591950 Exon 10 Deletion c.1113delC p.His371fs Pathogenic JP Pyatt (2006)
48591975 Intron 10 Splice Site c.1139G>A Pathogenic JP Aretz (2007)
48591976 Intron 10 Splice Site c.1139+1G>A Pathogenic JP Pyatt (2006)
48593398 Exon 11 Missense c.1148T>A p.Ile383Lys Pathogenic JP/HHT Gallione (2010)
48593407 Exon 11 Missense c.1157G>A p.Gly386Asp Pathogenic JP and JP/HHT Burger (2002)
48593412 Exon 11 Nonsense c.1162C>T p.Gln388X Pathogenic JP Kim (2000)
48593418 Exon 11 Missense c.1168G>A p.Glu390Lys Pathogenic JP Kim (2000)
48593442 Exon 11 Nonsense c.1193G>A p.Trp398X Pathogenic JP van Hattem (2008)
48593479 Exon 11 Deletion c.1228-1229delCA p.Gln410fs Pathogenic JP/HHT lyer (2010)
48593487 Exon 11 Nonsense c.1236C>G p.Tyr412X Pathogenic JP Handra-Luca (2005)
48593492 Exon 11 Deletion c.1242_45delAGAC p.Asp415fs Pathogenic JP/HHT Gallione (2010)
48593493 Exon 11 Deletion c.1242delA p.Asp415fs Pathogenic JP Handra-Luca (2005)
48593495 Exon 11 Deletion c.1244_1247delACAG p.Asp415fs Pathogenic JP Howe (1998)
48593516 Exon 11 Deletion c.1268delG p.Gly423fs Pathogenic JP Handra-Luca (2005)
48603031 Exon 12 Nonsense c.1333C>T p.Arg445X Pathogenic JP Woodford-Richens (2000)
48603040 Exon 12 Nonsense c.1342C>T p.Gln448X Pathogenic JP Friedl (2002)
48603041 Exon 12 Deletion c.1343_1365del22 p.Gln448fs Pathogenic JP Howe 2004
48603059 Exon 12 Deletion c.1361_1364delCACA p.Ala454fs Pathogenic JP Pyatt (2006)
48603105 Exon 12 Insertion c.1409_1410insCCCT p.Pro470fs Pathogenic JP Sweet (2005)
48603107 Exon 12 Deletion c.1411-1435del25 p.Gly471fs Pathogenic JP van Hattem (2008)
48603117 Exon 12 Deletion c.1421delC p.Ser474fs Pathogenic JP Aretz (2007)
48603117 Intron 12 Splice Site c.1447+1G>A Pathogenic JP/HHT Schwenter (2011)
48603168 Exon 13 Missense c.1472G>T p.Gly491Val Pathogenic JP Alazzouzi (2005)
48603174 Exon 13 Missense c.1478A>C p.Asp493Ala Pathogenic JP Alazzouzi (2005)
48604702 Exon 13 Missense c.1525T>A p.Trp509Arg Pathogenic JP Sweet (2005)
48604704 Exon 13 Nonsense c.1527G>A p.Trp509X Pathogenic JP Pintiliciuc (2008)
48604706 Exon 13 Missense c.1529G>T p.Gly510Val Pathogenic JP Howe (2004)
48604721 Exon 13 Deletion c.1544delG p.Arg515fs Pathogenic JP Friedl (2002)
48604724 Exon 13 Duplication c.1547_1550dupAGAG p.Ser517fs Pathogenic JP Aretz (2007)
48604727 Exon 13 Insertion c.1550_1551insAGAG p.Ser517fs Pathogenic JP Friedl (2002)
48604741 Exon 13 Deletion c.1564_1565delCC p.Pro522fs Pathogenic JP Woodford-Richens (2000)
48604748 Exon 13 Missense c.1571G>T p.Trp524Leu Pathogenic JP Handra-Luca (2005)
48604763 Exon 13 Duplication c.1586dupA p.Leu529fs Pathogenic JP van Hattem (2008)
48604765 Exon 13 Deletion c.1588delC p.His530fs Pathogenic JP Sayed (2002)
48604766 Exon 13 Duplication c.1587_88dupTA p.His530fs Pathogenic JP/HHT Gallione (2010)
48604771 Exon 13 Deletion c.1594delG p.Ala532fs Pathogenic JP/HHT Gallione (2004)
48604773 Exon 13 Deletion, Insertion c.1596_1597
delCC insT
p.Ala532fs Pathogenic JP/HHT Gallione (2006)
48604773 Exon 13 Deletion c.1596delC p.Leu533fs Pathogenic JP/HHT Pyatt (2006)
48604774 Exon 13 Missense c.1597C>G p.Leu533Val Pathogenic JP Alazzouzi (2005)
48604775 Exon 13 Missense c.1598T>G p.Leu533Arg Pathogenic JP/HHT Gallione (2004)
48604777 Exon 13 Nonsense c.1600C>T p.Gln534X Pathogenic JP/HHT Gallione (2004)
48604777 Exon 13 Missense c.1598T>C p.Leu533Pro Pathogenic JP/HHT Gallione (2010)
48604785 Exon 13 Insertion c.1607insT p.Leu536fs Pathogenic JP Handra-Luca (2005)
48604790 Exon 13 Deletion c.1612_1625del p.Glu538fs Pathogenic JP/HHT Gallione (2004)