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
48546328 Whole Gene Large Deletion Full Gene Deletion Pathogenic JP Aretz (2007)
48573605 Exon 3 Indel c.189_197del
ins44
p.Thr63fs Pathogenic JP Woodford-Richens (2001)
48575108 Exon 4 Nonsense c.302G>A p.Trp101* Pathogenic JP/HHT Gallione (2010)
48575160 Exon 4 Silent c.354G>A p.Ala118Ala Benign JP Pyatt (2006)
ARUP Laboratories
48575179 Exon 4 Insertion c.373_374insAT p.Ser125fs Pathogenic JP Calva-Cerqueira (2009)
48575181 Exon 4 Duplication c.375_381dup p.Val128fs Pathogenic JP Handra-Luca (2005)
48575209 Exon 4 Nonsense c.403C>T p.Arg135* Pathogenic JP Alazzouzi (2005)
48575231 Intron 4 Splice Site c.424+1G>A Pathogenic JP Woodford-Richens (2001)
48575659 Intron 4 Splice Site c.425-6A>G Pending classification JP Aretz (2007)
48575670 Exon 5 Deletion c.430_431del p.Ser144fs Pathogenic JP Pyatt (2006)
ARUP Laboratories
48575677 Exon 5 Nonsense c.437T>A p.Leu146* Pathogenic JP Aretz (2007)
48581212 Exon 6 Deletion c.516_527del p.Ser173_Gly176del Pathogenic JP Woodford-Richens (2000)
48581229 Exon 6 Nonsense c.533C>G p.Ser178* Pathogenic JP Roth (1999)
48581234 Exon 6 Nonsense c.538C>T p.Gln180* Pathogenic JP Woodford-Richens (2001)
48581304 Exon 6 Deletion c.608del p.Pro203fs Pathogenic JP Sayed (2002)
48584496 Exon 7-13 Large Deletion EX7-13del Pathogenic JP Aretz (2007)
48584519 Exon 7 Duplication c.692dup p.Ser232fs Pathogenic JP/HHT Gallione (2010)
Howe (1998)
48584558 Exon 7 Insertion c.731_732insGCCC p.Gln245fs Pathogenic JP Pyatt (2006)
48584678 Intron 7 Intronic c.788-32G>T Pending classification JP Sweet (2005)
48584710 Exon 8-13 Large Deletion EX8-13del Pathogenic JP Aretz (2007)
48584753 Exon 8 Deletion c.831_832del p.Pro278* Pathogenic JP Friedl (1999)
Friedl (2002)
48586184 Intron 8 Intronic c.905-52A>G Benign JP ARUP Laboratories
48586256 Exon 9 Duplication c.925_928dup p.Phe310fs Pathogenic JP Pyatt (2006)
48586270 Exon 9 Deletion c.939del p.Ile314fs Pathogenic HHT Torring (2014)
48591807 Exon 10 Missense c.970T>C p.Cys324Arg Pending classification JP van Hattem (2008)
48591808 Exon 10 Deletion c.971del p.Cys324fs Pathogenic JP van Hattem (2008)
48591819 Exon 10 Insertion c.982_983insT p.Tyr328fs Pathogenic JP Pyatt (2006)
48591825 Exon 10 Missense c.988G>A p.Glu330Lys Pending classification JP and JP/HHT Alazzouzi (2005)
48591826 Exon 10 Missense c.989A>G p.Glu330Gly Pending classification JP Sayed (2002)
48591874 Exon 10 Deletion c.1037del p.Pro346fs Pathogenic JP Sayed (2002)
48591879 Exon 10 Deletion c.1042del p.Val348fs Pathogenic JP Howe (1998)
48591891 Exon 10 Missense c.1054G>A p.Gly352Arg Pending classification JP and JP/HHT Sayed (2002)
48591892 Exon 10 Missense c.1055G>A p.Gly352Glu Pending classification JP/HHT Gallione (2010)
48591895 Exon 10 Missense c.1058A>C p.Tyr353Ser Pending classification JP Roth (1999)
48591918 Exon 10 Missense c.1081C>A p.Arg361Ser Pending classification JP Howe (2004)
48591918 Exon 10 Missense c.1081C>G p.Arg361Gly Pending classification JP and JP/HHT Gallione (2004)
48591918 Exon 10 Missense c.1081C>T p.Arg361Cys Pathogenic JP, JP/HHT, and HHT Houlston (1998)
ARUP Laboratories
48591919 Exon 10 Missense c.1082G>A p.Arg361His Pathogenic JP and JP/HHT Kim (2000)
ARUP Laboratories
48591919 Exon 10 Missense c.1082G>T p.Arg361Leu Pending classification JP/HHT Gallione (2010)
48591924 Exon 10 Missense c.1087T>C p.Cys363Arg Pathogenic JP Aretz (2007)
ARUP Laboratories
48591925 Exon 10 Deletion c.1088_1090del p.Cys363del Pending classification JP/HHT Pyatt (2006)
48591928 Exon 10 Missense c.1091T>G p.Leu364Trp Pending classification JP and JP/HHT Pyatt (2006)
48591939 Exon 10 Deletion c.1102_1103del p.Ser368fs Pathogenic JP/HHT Gallione (2010)
48591950 Exon 10 Deletion c.1113del p.His371fs Pathogenic JP Pyatt (2006)
48591976 Exon 10 Splice Site c.1139G>A p.Arg380Lys Pending classification JP Aretz (2007)
48591977 Intron 10 Splice Site c.1139+1G>A Pathogenic JP Pyatt (2006)
48593397 Exon 11 Missense c.1148T>A p.Ile383Lys Pending classification JP/HHT Gallione (2010)
48593405 Exon 11 Missense c.1156G>A p.Gly386Ser Pending classification HHT Torring (2014)
48593406 Exon 11 Missense c.1157G>A p.Gly386Asp Pending classification JP and JP/HHT Burger (2002)
48593411 Exon 11 Nonsense c.1162C>T p.Gln388* Pathogenic JP Kim (2000)
48593417 Exon 11 Missense c.1168G>A p.Glu390Lys Pending classification JP Kim (2000)
48593442 Exon 11 Nonsense c.1193G>A p.Trp398* Pathogenic JP van Hattem (2008)
ARUP Laboratories
48593477 Exon 11 Deletion c.1228_1229del p.Gln410fs Pathogenic JP/HHT lyer (2010)
48593485 Exon 11 Nonsense c.1236C>G p.Tyr412* Pathogenic JP Handra-Luca (2005)
48593491 Exon 11 Deletion c.1242delA p.Asp415fs Pathogenic JP Handra-Luca (2005)
48593494 Exon 11 Deletion c.1245_1248del p.Asp415fs Pathogenic JP/HHT Gallione (2010)
Howe (1998)
48593517 Exon 11 Deletion c.1268del p.Gly423fs Pathogenic JP Handra-Luca (2005)
48603032 Exon 12 Nonsense c.1333C>T p.Arg445* Pathogenic JP Woodford-Richens (2000)
48603041 Exon 12 Nonsense c.1342C>T p.Gln448* Pathogenic JP Friedl (2002)
48603042 Exon 12 Deletion c.1343_1365del p.Gln448fs Pathogenic JP Howe 2004
48603060 Exon 12 Deletion c.1361_1364del p.Ala454fs Pathogenic JP Pyatt (2006)
48603108 Exon 12 Insertion c.1409_1410insCCCT p.Gly471fs Pathogenic JP Sweet (2005)
48603110 Exon 12 Deletion c.1411_1435del p.Gly471fs Pathogenic JP van Hattem (2008)
48603120 Exon 12 Deletion c.1421del p.Ser474* Pathogenic JP Aretz (2007)
48603147 Intron 12 Splice Site c.1447+1G>A Pathogenic JP/HHT Schwenter (2011)
48604650 Exon 13 Missense c.1472G>T p.Gly491Val Pending classification JP Alazzouzi (2005)
48604656 Exon 13 Missense c.1478A>C p.Asp493Ala Pending classification JP Alazzouzi (2005)
48604703 Exon 13 Missense c.1525T>A p.Trp509Arg Pending classification JP Sweet (2005)
48604705 Exon 13 Nonsense c.1527G>A p.Trp509* Pathogenic JP Pintiliciuc (2008)
48604707 Exon 13 Missense c.1529G>T p.Gly510Val Pending classification JP Howe (2004)
48604722 Exon 13 Deletion c.1544del p.Arg515fs Pathogenic JP Friedl (2002)
48604725 Exon 13 Duplication c.1547_1550dup p.Ser517fs Pathogenic JP Aretz (2007)
48604725 Exon 13 Insertion c.1550_1551insAGAG p.Ser517fs Pathogenic JP Friedl (2002)
48604742 Exon 13 Deletion c.1564_1565del p.Pro522fs Pathogenic JP Woodford-Richens (2000)
48604749 Exon 13 Missense c.1571G>T p.Trp524Leu Pending classification JP Handra-Luca (2005)
48604764 Exon 13 Duplication c.1586dup p.Leu529fs Pathogenic JP van Hattem (2008)
48604766 Exon 13 Deletion c.1588del p.His530fs Pathogenic JP Sayed (2002)
48604767 Exon 13 Duplication c.1589_1590dup p.Arg531fs Pathogenic JP/HHT Gallione (2010)
48604772 Exon 13 Deletion c.1594del p.Ala532fs Pathogenic JP/HHT Gallione (2004)
48604774 Exon 13 Indel c.1596_1597delinsT p.Leu533fs Pathogenic JP/HHT Gallione (2006)
48604775 Exon 13 Deletion c.1597del p.Leu533fs Pathogenic JP/HHT Pyatt (2006)
48604775 Exon 13 Missense c.1597C>G p.Leu533Val Pending classification JP Alazzouzi (2005)
48604776 Exon 13 Missense c.1598T>G p.Leu533Arg Pending classification JP/HHT Gallione (2004)
48604776 Exon 13 Missense c.1598T>C p.Leu533Pro Pending classification JP/HHT Gallione (2010)
48604778 Exon 13 Nonsense c.1600C>T p.Gln534* Pathogenic JP/HHT Gallione (2004)
48604785 Exon 13 Duplication c.1607dup p.Asp537fs Pathogenic JP Handra-Luca (2005)
48604790 Exon 13 Deletion c.1612_1625del p.Glu538fs Pathogenic JP/HHT Gallione (2004)