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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
50LysGluGla8943854
65ValGluGla11858485
67GluAlaGla17157360, 7803790
68AlaAspGla 
72PheCysGla7803790
78ThrMetGla7803790
79AspTyrGla20181378
87ValLeuGla9651142
87ValPheGla18322254
90ArgCys 11858485
95GlyArg 11927129
95GlyGlu 8943854
108ProLeu 8765219
111ArgSer 8765219
129AspAsnEGF-like 121492322
144ThrAsnEGF-like 111019964, 7803790
149TrpCysEGF-like 111776305
154CysPheEGF-like 1 
157AspGlyEGF-like 2; calcium-bindi8765219
161CysGlyEGF-like 2; calcium-bindi8765219
186CysTyrEGF-like 2; calcium-bindi8943854
188AsnLysEGF-like 2; calcium-bindi 
196LysGluEGF-like 2; calcium-bindi15238143, 15140145, 8378895, 8298131
228CysSerEGF-like 3; calcium-bindi 
233ArgLysEGF-like 3; calcium-bindi18322254
241CysSerEGF-like 3; calcium-bindi8943854
243AspAsnEGF-like 4; calcium-bindi11372770
245AspGlyEGF-like 4; calcium-bindi7803790
247CysGlyEGF-like 4; calcium-bindi10706858
249GluLysEGF-like 4; calcium-bindi8943854
258AsnSerEGF-like 4; calcium-bindi7545463, 7902733
261GlyGluEGF-like 4; calcium-bindi7545463
265CysArgEGF-like 4; calcium-bindi7803790
265CysTrpEGF-like 4; calcium-bindi7803790
300LeuProLaminin G-like 18701404
302LeuTrpLaminin G-like 17482398
307AlaCysLaminin G-like 19031443
316ArgCysLaminin G-like 116961607
324SerProLaminin G-like 18943854
333AspAsnLaminin G-like 1 
336GlySerLaminin G-like 19651142
336GlyValLaminin G-like 17780139, 9192759
339LeuProLaminin G-like 111372770
351LeuProLaminin G-like 17579449
355ArgCysLaminin G-like 121764702
355ArgHisLaminin G-like 115238143, 16961607
364LysGluLaminin G-like 18765219
376AspAsnLaminin G-like 17803790
381GlyAspLaminin G-like 18943854
381GlyValLaminin G-like 17482398
383TrpArgLaminin G-like 116868938, 11776305
390GluLysLaminin G-like 111776305
413LeuLysLaminin G-like 1 
416ProGlnLaminin G-like 116961607
446LeuProLaminin G-like 18765219, 9690481
449CysSerLaminin G-like 18943854
472AsnLysLaminin G-like 1 
475CysArgLaminin G-like 18765219
482GlyCys 10447256, 10607700
485TyrCysLaminin G-like 210447256, 10607700
490IleLeuLaminin G-like 2 
496AspTyrLaminin G-like 216961607
501SerAlaLaminin G-like 28765219
508ValGlyLaminin G-like 27482398
510ValMetLaminin G-like 28765219
515ArgCysLaminin G-like 28765219, 8639833
525AlaProLaminin G-like 28765219, 8822580
526LeuSerLaminin G-like 211776305
532ThrAlaLaminin G-like 28765219
552LeuSerLaminin G-like 27579449
561ArgGlyLaminin G-like 210447256, 10607700
568CysTyrLaminin G-like 28765219
575LeuArgLaminin G-like 28765219
577PheLeuLaminin G-like 210790208
580AsnSerLaminin G-like 210063989
584LeuGlnLaminin G-like 27579449
588ThrAlaLaminin G-like 2 
611MetThrLaminin G-like 27545463, 8611698
616AlaProLaminin G-like 27579449
622LeuArgLaminin G-like 210706858
630ThrIleLaminin G-like 220181378, 11927129
636TyrCysLaminin G-like 220829681, 20510102, 19923982, 20860169,
639CysPheLaminin G-like 29031443
640MetThrLaminin G-like 218322254, 10790208
644IleSerLaminin G-like 28977443
664HisProLaminin G-like 211858485
665SerLeuLaminin G-like 28781426
666CysArgLaminin G-like 28701404
667ProLeu 20181378, 10607700, 10790208
674LysGln 7579449
674LysIle  

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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