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Mutazioni identificate/Described mutations

ucleotide Change Location Codon# Aminoacid Change HGMD# § Phenotype Reference
c.31del Ex 1 -14 Ter CD054361 FLD Arter Thromb Vasc Biol 25:1972,2005
c.35C>T Ex 1 -13 Thr>Met CM053947 Unclassified Arter Thromb Vasc Biol 25:1972,2005
c.54ins30bp Ex 1   Dupl. aa -6>4 CN952379 FLD Hum Mol Genet 4:143,1995
c.86A>T Ex 1 5 Asn>Ile CM960923 FLD Int J Clin Lab Res 26:250,1996
c.101insC Ex 1 10 Pro10fsTer17 CI910573 FLD Arter Thromb Vasc Biol 15:460,1995
c.101C>A Ex 1 10 Pro>Gln CM960924 FED Arter Thromb Vasc Biol 16:294,1996
c.101C>T Ex 1 10 Pro>Leu CM920399 FED Biochem Biophys Res Comm 182:583,1992
c.110C>T Ex 1 13 Thr>Met CM983876 FLD J Lipid Res 39:1870,1998
g.131-157del Ex 1 19 Ser19fsTer26 CG054527 FLD Arter Thromb Vasc Biol 25:1972,2005
c.141-145del Ex 1 23 Arg23fsTer76 CD044146 FLD Nephrol Dial Transpl 19:1622,2004
c.154G>A Ex 2 28
 Val>Met CM074913 FLD Nephrol Dial Transpl 22:2048,2007
c.160G>A Ex 2 30 Gly>Ser CM960925 FLD Hum Mutat 8:79,1996
c.167T>C Ex 2 32 Leu>Pro CM973683
 FLD J Lipid Res 40:59,1999
c.169G>C Ex 2 33 Gly>Arg CM950746 FLD Hum Mol Genet 4:143,1995
c.177del Ex 2 35 His35fsTer61
FLD Atherosclerosis 207:452,2009
c.209T>A Ex 2 46 Val>Glu CM053949 FED Arter Thromb Vasc Biol 25:1972,2005
c.230A>GEx 253
Lys>Arg
UnclassifiedCalabresi L, unpublished
c.254G>AEx 261
Trp>TerCM045659
UnclassifiedScience 305:869,2004
c.283G>C Ex 2 71 Gly>Arg CM066907
 Unclassified Atherosclerosis 187:101,2006
c.285-286del Ex 2 71 Gly71fsTer77 CD984654
 Unclassified Clin Chem Lab Med 36:443,1998
c.295T>C Ex 2 75 Trp>Arg CM074914
 FLD Nephrol Dial Transpl 22:2379,2007
c.321C>A Ex 3 83 Tyr>Ter CM930462 FLD J Clin Invest 91:677,1993
c.340G>A Ex 3 90 Val>Met   Unclassified Science 305:869,2004
c.343T>C Ex 3 91 Ser>Pro   FLD Arter Thromb Vasc Biol 25:1972,2005
c.349G>A Ex 3 93 Ala>Thr CM930463 FLD J Clin Invest 91:677,1993
c.367C>T Ex 3 99 Arg>Cys CM043856 FED Arter Thromb Vasc Biol 17:1382,1997
c.382G>A Ex 3 104 Gly>Ser CM045660
 Unclassified Science 305:869,2004
g.2147C>A IVS3       Unclassified Atherosclerosis 163:49,2002
c.440C>T Ex 4 123 Thr>Ile CM910250 FED Proc Natl Acad Sci 88:4855,1991
c.463A>G Ex 4 131 Asn>Asp CM950747 FED J Clin Invest 96:2783,1995
c.485C>T Ex 4 135 Arg>Trp CM930464 FLD J Clin Invest 91:677,1993
c.486G>A Ex 4 135 Arg>Gln CM960926 FED Arter Thromb Vasc Biol 16:294,1996
c.488-489del Ex 4 139 Thr138fsTer144 CD992520 FLD Atherosclerosis 146:141,1999
c.490C>T Ex 4 140 Arg>Cys CM043857 FLD Arter Thromb Vasc Biol 25:1972,2005
c.491G>A Ex 4 140 Arg>His CM950748 FLD Hum Genet 96:105,1995
c.493insGGC Ex 4 141 ins Gly CI910574 FLD Lancet 338:778,1991
c.493G>A Ex 4 141 Ala>Thr   FED Arter Thromb Vasc Biol 25:1972,2005
c.503A>G Ex 4 144 Tyr>Cys CM962678 FED J Lipid Res 37:35,1996
c.511C>T Ex 4 147 Arg>Trp CM900150 FLD Hum Genet 85:195,1990
g.2327T>C IVS4     CS961608 FED J Clin Invest 98:358,1996
c.538T>A Ex 5 156 Tyr>Asn CM930465 FLD J Lipid Res 34:49,1993
c.544C>T Ex 5 158 Arg>Cys CM930466 FLD J Clin Invest 91:677,1993
c.576del Ex 5 168 Met167fsTer239 CD951764 FLD J Lipid Res 36:931,1995
c.585T>G Ex 5 171 Tyr>Ter CM973684
 FLD Atherosclerosis 131:85,1997
c.604insA Ex 5 178 Leu177fsTer214 CI076962
 FLD Clin Chem Lab Med 45:483,2007
c.605T>C Ex 5 178 Ile>Thr CM023637 Unclassified Atherosclerosis 163:49,2002
c.614G>A Ex 5 181 Ser>Asn CM044018 FLD Nephrol Dial Transpl 19:1622;2004
c.619G>A Ex 5 183 Gly>Ser CM973682
 FLD Curr Opin Lipidol 2:110,1991
c.633insG Ex 5 187 Leu187fsTer228   FLD Atherosclerosis 206:346,2009
c.694T>A Ex 5 208 Ser>Thr CM071830
 Unclassified Atherosclerosis 149:219,2000
c.698T>C Ex 5 209 Leu>Pro CM930467 FLD J Clin Invest 91:677,1993
c.703G>A Ex 5
 211
 Ala>Thr
 CM074916
 FLD Nephrol Dial Transpl 22:2048,2007
c.726G>C Ex 5 218 Lys>Asn CM053945 FLD Arter Thromb Vasc Biol 25:1972,2005
c.756C>A Ex 6 228 Asn>Lys CM910252 FLD Lancet 338:778,1991
c.760G>C Ex 6 230 Gly>Arg CM981176 FLD Arter Thromb Vasc Biol 18:591,1998
c.794-801del Ex 6 241 Lys240fsTer257
FLD
 Atherosclerosis 206:346,2009
c.802C>T Ex 6 244 Arg>Cys CM074915
 FLD Nephrol Dial Transpl 22:2379,2007
c.803G>A Ex 6 244 Arg>His CM053948 FED Arter Thromb Vasc Biol 25:1972,2005;
c.821C>G Ex 6 250 Pro>Arg CM043858 FLD J Atheroscler Thromb 11:131,2004
c.827T>A Ex 6 252 Met>Lys CM920400 FLD FEBS Lett 309:307,1992
c.837-838del Ex 6 255 Pro254fsTer260 CD014270 Unclassified Atherosclerosis 156:127,2001
c.862del Ex 6 264 His263fsTer385 CD952176 FLD J Lipid Res 36:2329,1995
c.892A>G Ex 6 274 Thr>Ala CM012147 FED Nephron 88:268,2001
c.893C>T Ex 6 274 Thr>Ile CM053946 FLD Arter Thromb Vasc Biol 25:1972,2005
c.899G>AEx 6276Arg>His UnclassifiedCalabresi L, unpublished
c.901G>A Ex 6 277 Asp>Asn   Unclassified Science 305:869,2004
c.951G>A Ex 6 293 Met>Ile CM910253 FED Lancet 338:778,1991
c.970-972del Ex 6 300 del Leu CD931018 FED J Clin Invest 92:479,1993
c.991C>T Ex 6 307 Pro>Ser CM983877 FLD J Lipid Res 39:1870,1998
c.997G>A Ex 6 309 Val>Met CM053950 FLD Arter Thromb Vasc Biol 25:1972,2005
c.1007A>GEx 6312Tyr>Cys FEDCalabresi L, unpublished
c.1021G>AEx 6317
Val>Met UnclassifiedCalabresi L, unpublished
c.1034C>T Ex 6 321 Thr>Met CM930468 FLD J Clin Invest 91:677,1993
c.1081G>AEx 6337Cys>Tyr
FLDAtherosclerosis 216:161,2011
c.1102G>A Ex 6 344 Gly>Ser CM952170 FLD J Lipid Res 36:2329,1995
c.1103G>T Ex 6 344 Gly>Val CM045658
 Unclassified Science 305:869,2004
c.1112C>T Ex 6 347 Thr>Met CM920401 FED J Clin Invest 89:499,1992
c.1115-117delEx 6348
del Val UnclassifiedCalabresi L, unpublished
c.1132G>AEx 6354
Glu>Lys FEDCalabresi L, unpublished
c.1187T>G Ex 6 372 Leu>Arg CM068001
 FLD Arter Thromb Vasc Biol 25:1972,2005
c.1198insG Ex 6 376 Ile375fsTer416 CI931094 FLD J Clin Invest 91:677,1993
c.1216T>G Ex 6 382 Phe>Val CM034238 FLD Atherosclerosis 170:105,2003
c.1234G>AEx 6388
Glu>Lys UnclassifiedCalabresi L, unpublished
c.1244A>G Ex 6 391 Asn>Ser CM973681
 FED J Clin Invest 93:321,1994
c.1267C>TEx 6399Arg>CysCM950749FLDArter Thromb Vasc Biol 15:460,1995
c.1289C>T Ex 6 406
 Pro>Leu
Unclassified Calabresi L, unpublished
 
§ Human Gene Mutation Database
Updated 07 July 2011