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).
  • Click any Column Header to sort the display. Mouse over Comments icon for additional details.
  • "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).


87 variants found

Genomic Position Location Mutation Type Nucleotide Change Protein Change Classification Phenotype References Comments
Whole Gene Large Deletion Full Gene Deletion Pathogenic JP Aretz (2007)
Exon 3 Indel c.189_197del
ins44
p.Thr63fs Pathogenic JP Woodford-Richens (2001)
Exon 4 Nonsense c.302G>A p.Trp101* Pathogenic JP/HHT Gallione (2010)
Exon 4 Silent c.354G>A p.Ala118Ala Benign JP Pyatt (2006)
ARUP Laboratories
Exon 4 Insertion c.373_374insAT p.Ser125fs Pathogenic JP Calva-Cerqueira (2009)
Exon 4 Duplication c.375_381dup p.Val128fs Pathogenic JP Handra-Luca (2005)
Exon 4 Nonsense c.403C>T p.Arg135* Pathogenic JP Alazzouzi (2005)
Intron 4 Splice Site c.424+1G>A Pathogenic JP Woodford-Richens (2001)
Intron 4 Splice Site c.425-6A>G Pending classification JP Aretz (2007)
Exon 5 Deletion c.430_431del p.Ser144fs Pathogenic JP Pyatt (2006)
ARUP Laboratories
Exon 5 Nonsense c.437T>A p.Leu146* Pathogenic JP Aretz (2007)
Exon 6 Deletion c.516_527del p.Ser173_Gly176del Pathogenic JP Woodford-Richens (2000)
Exon 6 Nonsense c.533C>G p.Ser178* Pathogenic JP Roth (1999)
Exon 6 Nonsense c.538C>T p.Gln180* Pathogenic JP Woodford-Richens (2001)
Exon 6 Deletion c.608del p.Pro203fs Pathogenic JP Sayed (2002)
Exon 7-13 Large Deletion EX7-13del Pathogenic JP Aretz (2007)
Exon 7 Duplication c.692dup p.Ser232fs Pathogenic JP/HHT Gallione (2010)
Howe (1998)
Exon 7 Insertion c.731_732insGCCC p.Gln245fs Pathogenic JP Pyatt (2006)
Intron 7 Intronic c.788-32G>T Pending classification JP Sweet (2005)
Exon 8-13 Large Deletion EX8-13del Pathogenic JP Aretz (2007)
Exon 8 Deletion c.831_832del p.Pro278* Pathogenic JP Friedl (1999)
Friedl (2002)
Intron 8 Intronic c.905-52A>G Benign JP ARUP Laboratories
Exon 9 Duplication c.925_928dup p.Phe310fs Pathogenic JP Pyatt (2006)
Exon 9 Deletion c.939del p.Ile314fs Pathogenic HHT Torring (2014)
Exon 10 Missense c.970T>C p.Cys324Arg Pending classification JP van Hattem (2008)
Exon 10 Deletion c.971del p.Cys324fs Pathogenic JP van Hattem (2008)
Exon 10 Insertion c.982_983insT p.Tyr328fs Pathogenic JP Pyatt (2006)
Exon 10 Missense c.988G>A p.Glu330Lys Pending classification JP and JP/HHT Alazzouzi (2005)
Exon 10 Missense c.989A>G p.Glu330Gly Pending classification JP Sayed (2002)
Exon 10 Deletion c.1037del p.Pro346fs Pathogenic JP Sayed (2002)
Exon 10 Deletion c.1042del p.Val348fs Pathogenic JP Howe (1998)
Exon 10 Missense c.1054G>A p.Gly352Arg Pending classification JP and JP/HHT Sayed (2002)
Exon 10 Missense c.1055G>A p.Gly352Glu Pending classification JP/HHT Gallione (2010)
Exon 10 Missense c.1058A>C p.Tyr353Ser Pending classification JP Roth (1999)
Exon 10 Missense c.1081C>A p.Arg361Ser Pending classification JP Howe (2004)
Exon 10 Missense c.1081C>G p.Arg361Gly Pending classification JP and JP/HHT Gallione (2004)
Exon 10 Missense c.1081C>T p.Arg361Cys Pathogenic JP, JP/HHT, and HHT Houlston (1998)
ARUP Laboratories
Exon 10 Missense c.1082G>A p.Arg361His Pathogenic JP and JP/HHT Kim (2000)
ARUP Laboratories
Exon 10 Missense c.1082G>T p.Arg361Leu Pending classification JP/HHT Gallione (2010)
Exon 10 Missense c.1087T>C p.Cys363Arg Pathogenic JP Aretz (2007)
ARUP Laboratories
Exon 10 Deletion c.1088_1090del p.Cys363del Pending classification JP/HHT Pyatt (2006)
Exon 10 Missense c.1091T>G p.Leu364Trp Pending classification JP and JP/HHT Pyatt (2006)
Exon 10 Deletion c.1102_1103del p.Ser368fs Pathogenic JP/HHT Gallione (2010)
Exon 10 Deletion c.1113del p.His371fs Pathogenic JP Pyatt (2006)
Exon 10 Splice Site c.1139G>A p.Arg380Lys Pending classification JP Aretz (2007)
Intron 10 Splice Site c.1139+1G>A Pathogenic JP Pyatt (2006)
Exon 11 Missense c.1148T>A p.Ile383Lys Pending classification JP/HHT Gallione (2010)
Exon 11 Missense c.1156G>A p.Gly386Ser Pending classification HHT Torring (2014)
Exon 11 Missense c.1157G>A p.Gly386Asp Pending classification JP and JP/HHT Burger (2002)
Exon 11 Nonsense c.1162C>T p.Gln388* Pathogenic JP Kim (2000)
Exon 11 Missense c.1168G>A p.Glu390Lys Pending classification JP Kim (2000)
Exon 11 Nonsense c.1193G>A p.Trp398* Pathogenic JP van Hattem (2008)
ARUP Laboratories
Exon 11 Deletion c.1228_1229del p.Gln410fs Pathogenic JP/HHT lyer (2010)
Exon 11 Nonsense c.1236C>G p.Tyr412* Pathogenic JP Handra-Luca (2005)
Exon 11 Deletion c.1242delA p.Asp415fs Pathogenic JP Handra-Luca (2005)
Exon 11 Deletion c.1245_1248del p.Asp415fs Pathogenic JP/HHT Gallione (2010)
Howe (1998)
Exon 11 Deletion c.1268del p.Gly423fs Pathogenic JP Handra-Luca (2005)
Exon 12 Nonsense c.1333C>T p.Arg445* Pathogenic JP Woodford-Richens (2000)
Exon 12 Nonsense c.1342C>T p.Gln448* Pathogenic JP Friedl (2002)
Exon 12 Deletion c.1343_1365del p.Gln448fs Pathogenic JP Howe 2004
Exon 12 Deletion c.1361_1364del p.Ala454fs Pathogenic JP Pyatt (2006)
Exon 12 Insertion c.1409_1410insCCCT p.Gly471fs Pathogenic JP Sweet (2005)
Exon 12 Deletion c.1411_1435del p.Gly471fs Pathogenic JP van Hattem (2008)
Exon 12 Deletion c.1421del p.Ser474* Pathogenic JP Aretz (2007)
Intron 12 Splice Site c.1447+1G>A Pathogenic JP/HHT Schwenter (2011)
Exon 13 Missense c.1472G>T p.Gly491Val Pending classification JP Alazzouzi (2005)
Exon 13 Missense c.1478A>C p.Asp493Ala Pending classification JP Alazzouzi (2005)
Exon 13 Missense c.1525T>A p.Trp509Arg Pending classification JP Sweet (2005)
Exon 13 Nonsense c.1527G>A p.Trp509* Pathogenic JP Pintiliciuc (2008)
Exon 13 Missense c.1529G>T p.Gly510Val Pending classification JP Howe (2004)
Exon 13 Deletion c.1544del p.Arg515fs Pathogenic JP Friedl (2002)
Exon 13 Duplication c.1547_1550dup p.Ser517fs Pathogenic JP Aretz (2007)
Exon 13 Insertion c.1550_1551insAGAG p.Ser517fs Pathogenic JP Friedl (2002)
Exon 13 Deletion c.1564_1565del p.Pro522fs Pathogenic JP Woodford-Richens (2000)
Exon 13 Missense c.1571G>T p.Trp524Leu Pending classification JP Handra-Luca (2005)
Exon 13 Duplication c.1586dup p.Leu529fs Pathogenic JP van Hattem (2008)
Exon 13 Deletion c.1588del p.His530fs Pathogenic JP Sayed (2002)
Exon 13 Duplication c.1589_1590dup p.Arg531fs Pathogenic JP/HHT Gallione (2010)
Exon 13 Deletion c.1594del p.Ala532fs Pathogenic JP/HHT Gallione (2004)
Exon 13 Indel c.1596_1597delinsT p.Leu533fs Pathogenic JP/HHT Gallione (2006)
Exon 13 Deletion c.1597del p.Leu533fs Pathogenic JP/HHT Pyatt (2006)
Exon 13 Missense c.1597C>G p.Leu533Val Pending classification JP Alazzouzi (2005)
Exon 13 Missense c.1598T>G p.Leu533Arg Pending classification JP/HHT Gallione (2004)
Exon 13 Missense c.1598T>C p.Leu533Pro Pending classification JP/HHT Gallione (2010)
Exon 13 Nonsense c.1600C>T p.Gln534* Pathogenic JP/HHT Gallione (2004)
Exon 13 Duplication c.1607dup p.Asp537fs Pathogenic JP Handra-Luca (2005)
Exon 13 Deletion c.1612_1625del p.Glu538fs Pathogenic JP/HHT Gallione (2004)