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The mutations reported from Factor XIII are listed below: Factor XIII has two chains - Alpha and Beta Alpha chain Click on the highlighted residues for further information on mutation. MSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQEFLNVTSVHLFKERWDT NKVDHHTDKYENNKLIVRRGQSFYVQIDFSRPYDPRRDLFRVEYVIGRYPQENKGTYIPV PIVSELQSGKWGAKIVMREDRSVRLSIQSSPKCIVGKFRMYVAVWTPYGVLRTSRNPETD TYILFNPWCEDDAVYLDNEKEREEYVLNDIGVIFYGEVNDIKTRSWSYGQFEDGILDTCL YVMDRAQMDLSGRGNPIKVSRVGSAMVNAKDDEGVLVGSWDNIYAYGVPPSAWTGSVDIL LEYRSSENPVRYGQCWVFAGVFNTFLRCLGIPARIVTNYFSAHDNDANLQMDIFLEEDGN VNSKLTKDSVWNYHCWNEAWMTRPDLPVGFGGWQAVDSTPQENSDGMYRCGPASVQAIKH GHVCFQFDAPFVFAEVNSDLIYITAKKDGTHVVENVDATHIGKLIVTKQIGGDGMMDITD TYKFQEGQEEERLALETALMYGAKKPLNTEGVMKSRSNVDMDFEVENAVLGKDFKLSITF RNNSHNRYTITAYLSANITFYTGVPKAEFKKETFDVTLEPLSFKKEAVLIQAGEYMGQLL EQASLHFFVTARINETRDVLAKQKSTVLTIPEIIIKVRGTQVVGSDMTVTVQFTNPLKET LRNVWVHLDGPGVTRPMKKMFREIRPNSTVQWEEVCRPWVSGHRKLIASMSSDSLRHVYG ELDVQIQRRPSM Missense Position* Wild type Mutant Domain PMID 61 Asn Lys   7727776, 8130686, 8555083 65 His Tyr   17549292 78 Arg Cys   14604285, 19642362, 14720426, 16543965, 17880458 78 Arg His   17549292, 14695539 103 Glu Lys   11826242 160 Met Arg   16543965 168 Tyr Cys   20179089 187 Pro Leu   18028394 211 Gly Arg   15456491, 16479194 216 Gly Arg   16543965 236 Leu Arg   12801297 243 Met Thr   8025280, 9241733, 8547636 253 Arg Ile   8547636, 9241733 258 Lys Glu   17549292 261 Arg Cys   16543965, 17549292, 14695539, 9609521, 10805274 261 Arg His   18028394, 10027709, 16525586, 14695539 261 Arg Leu   15456491, 16479194 264 Ser Phe   16525586 284 Tyr Cys   11380452, 11695887, 10805274 289 Pro Arg   20179087 290 Pro Arg   20179087 296 Ser Arg   16330458, 11826242, 11057855, 17549292 317 Val Phe   16128900, 11167856 319 Ala Val   15456491, 16479194 327 Arg Gln   11167856, 8547636, 9241733 355 Leu Pro   15456491, 11168522 376 Trp Cys   16543965 379 Ala Pro   17880458, 17549292 383 Arg Ser   14695539 395 Ala Val   713045 399 Thr Asn   15456491, 16479194 409 Arg Gln   8555083, 9414279 414 Ser Leu   10606883, 16525586 414 Ser Trp   14604285, 14720426 415 Val Phe   16525586, 8865519, 9266932, 10027709 421 Gly Ser   17880458, 11073170, 17549292 499 Leu Pro   8547636, 9241733 502 Gly Arg   7727776, 8130686, 18600098 541 Arg Gln   20179090 542 Asn Lys   9827915, 12100162 563 Gly Arg   9531593, 10805274 593 Gly Ser   20179088 605 Leu Pro   17549292 612 Arg His   20829681, 20510102, 19923982, 20860169, 661 Leu Pro   9241732 668 Leu Pro   8547093 669 Asp Gly   20829681, 20510102, 19923982, 20860169, 682 Arg His   8555083, 1353995 704 Arg Gln   17549292 704 Arg Trp   19438481, 16409483 709 Ser Asn   18028394 717 His Arg   16543965, 16409483 Insertion Mutation Codon Exon/Intron Domain PMID  389insG    Exon 4    10606883  400insC    Exon 9    12100162  869insC        20301226, 19937244  1286insC    Exon 9    9712293  insC    Exon 9    15456491  insC  400  Exon 9    12100162 Deletion Mutation Codon Exon/Intron Domain PMID  delCAAA  466-469      12100162  3-bp deletion    Exon 14    12801297  598delaa  191  Exon 5    14604285  1652-1661del10-bp    Exon 12    15456491  127067del33    Exon 10    18246815  4-bp delAATT    Exon 11    9531593  2002-2003delCT    Exon 14    18028394  1392-1395delAATT        18028394  499-512del        17880458  1030-1033delAAT        9657747  delT Phe8        8547636  del(AG) within the AGAG repeat at nts 210 to 213.        1644910  602-605delAAAG    exon 5    21512576  Int1(+12)C>A        21512576 Nonsense Mutation* Codon Exon/Intron Domain PMID  Tyr69X    Exon 3    16525586  Arg171X    Exon 4    7918041  Arg174X    Exon 4    19642362  Arg326X        18028394, 16330458  Gly390X        20179087  Arg661X        17880458  Arg661X        17880458  Trp664X        20179087  Trp691X        16330458  Gly391X        20179087  Trp665X        20179087 Polymorphism Mutation* Codon Exon/Intron Domain PMID  Val34Leu        9763561, 10801785, 17107352, 17516146  Gly185Thr        18004208  Tyr204Phe        9920838  Pro564Leu      Sushi  9920838  Val650Ile        9920838  Glu651Gln        9920838  Gly593Ser    exon 13    20179087  Tyr205Cys    exon 4    20179087  Arg541Gln    exon 12    20179087  Val35Leu        20211923, 20822334  Arg409Gln    exon10    19937244 Splice site Mutation Codon Exon/Intron Domain PMID  IVS5-1G>A    Intron 5    17549292, 17880458  2045-1G>A    Intron 14    16525586  319G>T    Exon 3    16330458  IVS11[+1]G>T    Exon 10, Exon 11    15456491  892_895dupG        16525586  1642_1644dupA        16525586 Beta chain Click on the highlighted residues for further information on mutation. MRLKNLTFIIILIISGELYAEEKPCGFPHVENGRIAQYYYTFKSFYFPMSIDKKLSFFCL AGYTTESGRQEEQTTCTTEGWSPEPRCFKKCTKPDLSNGYISDVKLLYKIQENMRYGCAS GYKTTGGKDEEVVQCLSDGWSSQPTCRKEHETCLAPELYNGNYSTTQKTFKVKDKVQYEC ATGYYTAGGKKTEEVECLTYGWSLTPKCTKLKCSSLRLIENGYFHPVKQTYEEGDVVQFF CHENYYLSGSDLIQCYNFGWYPESPVCEGRRNRCPPPPLPINSKIQTHSTTYRHGEIVHI ECELNFEIHGSAEIRCEDGKWTEPPKCIEGQEKVACEEPPFIENGAANLHSKIYYNGDKV TYACKSGYLLHGSNEITCNRGKWTLPPECVENNENCKHPPVVMNGAVADGILASYATGSS VEYRCNEYYLLRGSKISRCEQGKWSSPPVCLEPCTVNVDYMNRNNIEMKWKYEGKVLHGD LIDFVCKQGYDLSPLTPLSELSVQCNRGEVKYPLCTRKESKGMCTSPPLIKHGVIISSTV DTYENGSSVEYRCFDHHFLEGSREAYCLDGMWTTPPLCLEPCTLSFTEMEKNNLLLKWDF DNRPHILHGEYIEFICRGDTYPAELYITGSILRMQCDRGQLKYPRCIPRQSTLSYQEPLR T Missense Position* Wild type Mutant Domain PMID 5 Cys Arg   20331752 81 Ile Asn Sushi 1 20331752 116 Leu Phe Sushi 2 20331752 217 Val Ile Sushi 4 20331752 316 Cys Phe Sushi 5 20331752 401 Val Glu Sushi 7 20331752 428 Pro Ser Sushi 7 20331752 450 Cys Phe Sushi 7 7883947, 11313256 Insertion Mutation Codon Exon/Intron Domain PMID  insAAC    Exon 3    11313256  1959insT        20331752  1155_1158dupACTT        20331752 Deletion Mutation Codon Exon/Intron Domain PMID  delG    Exon 9    11313256  471-473delATT        20331752  IVS2-1G>C        20331752  IVS3-1G>C        20331752 Polymorphism Mutation* Codon Exon/Intron Domain PMID  His95Arg        16241947 Splice site Mutation Codon Exon/Intron Domain PMID  IVS1-2delA    Intron A / Exon 2    11313256 * The positions are based on the protein sequence inclusive of the signal peptide if present.

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