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The mutations reported from Protein S are listed below: Click on the highlighted residues for further information on mutation. MRVLGGRCGALLACLLLVLPVSEANFLSKQQASQVLVRKRRANSLLEETKQGNLERECIE ELCNKEEAREVFENDPETDYFYPKYLVCLRSFQTGLFTAARQSTNAYPDLRSCVNAIPDQ CSPLPCNEDGYMSCKDGKASFTCTCKPGWQGEKCEFDINECKDPSNINGGCSQICDNTPG SYHCSCKNGFVMLSNKKDCKDVDECSLKPSICGTAVCKNIPGDFECECPEGYRYNLKSKS CEDIDECSENMCAQLCVNYPGGYTCYCDGKKGFKLAQDQKSCEVVSVCLPLNLDTKYELL YLAEQFAGVVLYLKFRLPEISRFSAEFDFRTYDSEGVILYAESIDHSAWLLIALRGGKIE VQLKNEHTSKITTGGDVINNGLWNMVSVEELEHSISIKIAKEAVMDINKPGPLFKPENGL LETKVYFAGFPRKVESELIKPINPRLDGCIRSWNLMKQGASGIKEIIQEKQNKHCLVTVE KGSYYPGSGIAQFHIDYNNVSSAEGWHVNVTLNIRPSTGTGVMLALVSGNNTVPFAVSLV DSTSEKSQDILLSVENTVIYRIQALSLCSDQQSHLEFRVNRNNLELSTPLKIETISHEDL QRQLAVLDKAMKAKVATYLGGLPDVPFSATPVNAFYNGCMEVNINGVQLDLDEAISKHND IRAHSCPSVWKKTKNS Missense Position* Wild type Mutant Domain PMID 50 Lys Glu Gla 8943854 65 Val Glu Gla 11858485 67 Glu Ala Gla 17157360, 7803790 68 Ala Asp Gla   72 Phe Cys Gla 7803790 78 Thr Met Gla 7803790 79 Asp Tyr Gla 20181378 87 Val Leu Gla 9651142 87 Val Phe Gla 18322254 90 Arg Cys   11858485 95 Gly Arg   11927129 95 Gly Glu   8943854 108 Pro Leu   8765219 111 Arg Ser   8765219 129 Asp Asn EGF-like 1 21492322 144 Thr Asn EGF-like 1 11019964, 7803790 149 Trp Cys EGF-like 1 11776305 154 Cys Phe EGF-like 1   157 Asp Gly EGF-like 2; calcium-bindi 8765219 161 Cys Gly EGF-like 2; calcium-bindi 8765219 186 Cys Tyr EGF-like 2; calcium-bindi 8943854 188 Asn Lys EGF-like 2; calcium-bindi   196 Lys Glu EGF-like 2; calcium-bindi 15238143, 15140145, 8378895, 8298131 228 Cys Ser EGF-like 3; calcium-bindi   233 Arg Lys EGF-like 3; calcium-bindi 18322254 241 Cys Ser EGF-like 3; calcium-bindi 8943854 243 Asp Asn EGF-like 4; calcium-bindi 11372770 245 Asp Gly EGF-like 4; calcium-bindi 7803790 247 Cys Gly EGF-like 4; calcium-bindi 10706858 249 Glu Lys EGF-like 4; calcium-bindi 8943854 258 Asn Ser EGF-like 4; calcium-bindi 7545463, 7902733 261 Gly Glu EGF-like 4; calcium-bindi 7545463 265 Cys Arg EGF-like 4; calcium-bindi 7803790 265 Cys Trp EGF-like 4; calcium-bindi 7803790 300 Leu Pro Laminin G-like 1 8701404 302 Leu Trp Laminin G-like 1 7482398 307 Ala Cys Laminin G-like 1 9031443 316 Arg Cys Laminin G-like 1 16961607 324 Ser Pro Laminin G-like 1 8943854 333 Asp Asn Laminin G-like 1   336 Gly Ser Laminin G-like 1 9651142 336 Gly Val Laminin G-like 1 7780139, 9192759 339 Leu Pro Laminin G-like 1 11372770 351 Leu Pro Laminin G-like 1 7579449 355 Arg Cys Laminin G-like 1 21764702 355 Arg His Laminin G-like 1 15238143, 16961607 364 Lys Glu Laminin G-like 1 8765219 376 Asp Asn Laminin G-like 1 7803790 381 Gly Asp Laminin G-like 1 8943854 381 Gly Val Laminin G-like 1 7482398 383 Trp Arg Laminin G-like 1 16868938, 11776305 390 Glu Lys Laminin G-like 1 11776305 413 Leu Lys Laminin G-like 1   416 Pro Gln Laminin G-like 1 16961607 446 Leu Pro Laminin G-like 1 8765219, 9690481 449 Cys Ser Laminin G-like 1 8943854 472 Asn Lys Laminin G-like 1   475 Cys Arg Laminin G-like 1 8765219 482 Gly Cys   10447256, 10607700 485 Tyr Cys Laminin G-like 2 10447256, 10607700 490 Ile Leu Laminin G-like 2   496 Asp Tyr Laminin G-like 2 16961607 501 Ser Ala Laminin G-like 2 8765219 508 Val Gly Laminin G-like 2 7482398 510 Val Met Laminin G-like 2 8765219 515 Arg Cys Laminin G-like 2 8765219, 8639833 525 Ala Pro Laminin G-like 2 8765219, 8822580 526 Leu Ser Laminin G-like 2 11776305 532 Thr Ala Laminin G-like 2 8765219 552 Leu Ser Laminin G-like 2 7579449 561 Arg Gly Laminin G-like 2 10447256, 10607700 568 Cys Tyr Laminin G-like 2 8765219 575 Leu Arg Laminin G-like 2 8765219 577 Phe Leu Laminin G-like 2 10790208 580 Asn Ser Laminin G-like 2 10063989 584 Leu Gln Laminin G-like 2 7579449 588 Thr Ala Laminin G-like 2   611 Met Thr Laminin G-like 2 7545463, 8611698 616 Ala Pro Laminin G-like 2 7579449 622 Leu Arg Laminin G-like 2 10706858 630 Thr Ile Laminin G-like 2 20181378, 11927129 636 Tyr Cys Laminin G-like 2 20829681, 20510102, 19923982, 20860169, 639 Cys Phe Laminin G-like 2 9031443 640 Met Thr Laminin G-like 2 18322254, 10790208 644 Ile Ser Laminin G-like 2 8977443 664 His Pro Laminin G-like 2 11858485 665 Ser Leu Laminin G-like 2 8781426 666 Cys Arg Laminin G-like 2 8701404 667 Pro Leu   20181378, 10607700, 10790208 674 Lys Gln   7579449 674 Lys Ile     Insertion Mutation Codon Exon/Intron Domain PMID  insT  25  Exon 7    7482398  insT  565  Exon 7    7482398  insC  578      7482398  insT    Exon 7    8701404  insT  265  Exon 7    9031443  insA  146147      8972044, 1967377  insT  186  Exon 7    8701404  insTC  539  Exon 7    10063989  146-147insA        8972044  265insT        9031443  912_913insA    exon 8    20137144 Deletion Mutation Codon Exon/Intron Domain PMID  delT  261      7482398  delG  267      7482398  633delAA        7579449  635delT    Exon 6    8943854  7nt del    Exon 2    8701404  4nt del    Exon 3    8701404  1418delA        10790208  1877delT        10790208  delACdelAAAG4-bp  632-633      11776305  34delG        11858485  331-334delTG  22-22  Exon 2    10447256  delA  43  Exon 3    7974339  TA(delCTTA)  44      8765219  C(delC)  67      8765219  CC(delT)  82      10790208  GA(delT)  122      8943854  927G(delG)  220      7545463  T(delT)  261      7482398  GG(delG)  267      7482398  AA(delA)  383      10790208  del(A)  448,449      8865520  1418delA        10790208  1877delT        10790208  TT(delT)  536      10790208  delAC  547      7545463  633(delA)        7579449  13nts delTAAAATAGCTAAA    Exon 11    18485091  delTG  187,188  Exon 2    18322254  1272delA    Exon 11    18322254  1731delT    Exon 14    18322254  I203-D204 deletion      EGF4  16409468  5-bp delCTCTG887        15238143  3 bp deletion 68-72 bp    Exon 2    15147381  1908delAC    Exon 14    7545463 Nonsense Mutation* Codon Exon/Intron Domain PMID  Glu60X      Gla  10790208, 18322254  Cys63X      Gla  7803790  Ser103X    Exon 4    8822579  Gly137X      EGF1  10790208  Trp149X      EGF1  10447256  Glu227X      EGF3  8701404  Tyr234X      EGF3  8765219  Cys247X      EGF4  15238143  Glu249X      EGF4  15238143  Gln279X      EGF4  10447256, 11372770, 18841302, 18322254  Ser334X      Laminin 1  10447256, 18322254  Trp383X      Laminin 1  8765219  Lys409X    Exon 11  Laminin 1  8943854,  Lys415X    Exon 11  Laminin 1  18485091  Lys433X        11372770  Arg451X    Exon 12  Laminin 1  7579449, 10613647, 8865520, 10063989, 18322254  Gly489X    Exon 12  Laminin 2  7545463  Trp506X      Laminin 2  10790208, 18322254  Gln563X      Laminin 2  8765219, 8639833  Tyr636X    Exon 15  Laminin 2  8943854 Polymorphism Mutation* Codon Exon/Intron Domain PMID  Ser501Pro      Laminin 2  15175796  Ser542Pro      Laminin 2  18479427  Pro667Pro        7803790, 17157360 Splice site Mutation Codon Exon/Intron Domain PMID  IVSE,+5,G->A        7803790  exon 10+5 A>G        15238143  260-1G>A        20022358  258-259AG>GT    Exon 3    18322254  -7C>G    Exon 1    18322254  IVSg-2A/T      EGF4  16409468 * The positions are based on the protein sequence inclusive of the signal peptide if present.

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