Difference between revisions of "Fabry:Mapping point mutations/HGMD"

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<figtable id="tab:hgmd_miss_nonsense_mutations">
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<caption>The public missense/nonsense mutations of the GLA gene associated with Fabry Disease as listed by [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=GLA HGMD]</caption>
 
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</figtable>

Latest revision as of 09:14, 10 June 2012

<figtable id="tab:hgmd_miss_nonsense_mutations"> The public missense/nonsense mutations of the GLA gene associated with Fabry Disease as listed by HGMD

Accession Number Codon change Amino acid change Codon number Reference
CM972793 ATG-ACG Met-Thr 1 Eng (1997) Mol Med 3, 174
CM023782 ATG-AGG Met-Arg 1 Shabbeer (2002) Mol Genet Metab 76, 23
CM960756 ATGc-ATA Met-Ile 1 Blanch (1996) Hum Mutat 8, 38
CM031693 CTT-CCT Leu-Pro 14 Tse (2003) Nephrol Dial Transplant 18, 182
CM053272 CTT-CCT Leu-Pro 16 Garzuly (2005) Brain 128, 2078
CM080394 TTC-TCC Phe-Ser 18 Auray-Blais (2008) Mol Genet Metab 93, 331
CM044894 CTG-CCG Leu-Pro 19 Teraguchi (2004) Jpn Heart J 45, 685
CM950584 gGCC-CCC Ala-Pro 20 Nakao (1995) N Engl J Med 333, 288
CM972763 GCA-GTA Ala-Val 31 Eng (1997) Mol Med 3, 174
CM950585 CTG-CCG Leu-Pro 32 Madsen (1995) Hum Mutat 5, 277
CM930324 AAT-AGT Asn-Ser 34 Eng (1993) Am J Hum Genet 53, 1186
CM066841 AATg-AAG Asn-Lys 34 Shabbeer (2006) Hum Genomics 2, 297
CM940841 tGGA-AGA Gly-Arg 35 Davies (1994) Hum Mol Genet 3, 667
CM085979 TTG-TCG Leu-Ser 36 Erdos (2008) Mol Genet Metab 95, 224
CM077753 TTGg-TTT Leu-Phe 36 Pereira (2007) Braz J Med Biol Res 40, 1599
CM003742 CCT-CTT Pro-Leu 40 Ashton-Prolla (2000) J Investig Med 48, 227
CM900109 gCCT-TCT Pro-Ser 40 Koide (1990) FEBS Lett 259, 353
CM066842 ACC-ATC Thr-Ile 41 Shabbeer (2006) Hum Genomics 2, 297
CM023783 ATG-ACG Met-Thr 42 Shabbeer (2002) Mol Genet Metab 76, 23
CM042713 cATG-CTG Met-Leu 42 Rosenthal (2004) Am J Kidney Dis 44, e85
CM960757 cATG-GTG Met-Val 42 Davies (1996) Eur J Hum Genet 4, 219
HM971923 GGC-GAC Gly-Asp 43 Iga (2001) Hum Genet 109 126
CM023784 GGC-GTC Gly-Val 43 Shabbeer (2002) Mol Genet Metab 76, 23
CM024286 gGGC-CGC Gly-Arg 43 Germain (2002) Mol Med 8, 306
CM900110 TGG-TAG Trp-Term 44 Sakuraba (1990) Am J Hum Genet 47, 784
CM057990 TGGc-TGT Trp-Cys 44 Wang (2005) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22, 489
CM972764 CAC-CGC His-Arg 46 Eng (1997) Mol Med 3, 174
CM012952 gCAC-TAC His-Tyr 46 Blaydon (2001) Hum Mutat 18, 459
CM012953 cTGG-GGG Trp-Gly 47 Blaydon (2001) Hum Mutat 18, 459
HM971745 TGG-TTG Trp-Leu 47 Cooper (2000) Hum Genet 107 535
CM032247 gGAG-AAG Glu-Lys 48 Rodriguez-Mari (2003) Hum Mutat 22, 258
CM012954 CGC-CCC Arg-Pro 49 Blaydon (2001) Hum Mutat 18, 459
CM940842 CGC-CTC Arg-Leu 49 Davies (1994) Hum Mol Genet 3, 667
CM960758 gCGC-AGC Arg-Ser 49 Davies (1996) Eur J Hum Genet 4, 219
CM024287 gCGC-GGC Arg-Gly 49 Germain (2002) Mol Med 8, 306
CM023785 TTC-TGC Phe-Cys 50 Shabbeer (2002) Mol Genet Metab 76, 23
CM012368 ATG-AAG Met-Lys 51 Ashley (2001) J Hum Genet 46, 192
CM061786 ATGt-ATA Met-Ile 51 Spada (2006) Am J Hum Genet 79, 31
CM960759 gTGC-CGC Cys-Arg 52 Blanch (1996) Hum Mutat 8, 38
CM940843 TGC-TCC Cys-Ser 52 Eng (1994) Hum Mol Genet 3, 1795
CM993652 TGCa-TGA Cys-Term 52 Topaloglu (1999) Mol Med 5, 806
CM080388 CTT-CCT Leu-Pro 54 Auray-Blais (2008) Mol Genet Metab 93, 331
CM930325 cTGC-GGC Cys-Gly 56 Eng (1993) Am J Hum Genet 53, 1186
CM960760 TGC-TAC Cys-Tyr 56 Davies (1996) Eur J Hum Genet 4, 219
CM940844 TGC-TTC Cys-Phe 56 Eng (1994) Hum Mol Genet 3, 1795
CM051062 TGCc-TGA Cys-Term 56 Shabbeer (2005) Hum Mutat 25, 299
CM940845 aGAG-AAG Glu-Lys 59 Eng (1994) Hum Mol Genet 3, 1795
CM051519 TGC-TAC Cys-Tyr 63 Schafer (2005) Hum Mutat 25, 412
CM061787 GAG-GGG Glu-Gly 66 Spada (2006) Am J Hum Genet 79, 31
CM051520 tGAG-AAG Glu-Lys 66 Schafer (2005) Hum Mutat 25, 412
CM920310 tGAG-CAG Glu-Gln 66 Ishii (1992) Hum Genet 89, 29
CM023786 gCTC-TTC Leu-Phe 68 Shabbeer (2002) Mol Genet Metab 76, 23
CM004857 ATG-AGG Met-Arg 72 Slee (2000) Ned Tijdschr Geneeskd 144, 2412
CM024288 ATGg-ATA Met-Ile 72 Germain (2002) Mol Med 8, 306
CM980938 gATG-GTG Met-Val 72 Okumiya (1998) Hum Mutat S1, S213
CM061788 GCA-GTA Ala-Val 73 Spada (2006) Am J Hum Genet 79, 31
CM080383 ATG-ACG Met-Thr 76 Shimotori (2008) Hum Mutat 29, 331
CM980939 TCA-TGA Ser-Term 78 Guffon (1998) Hum Mutat S1, S288
CM972903 aGAA-TAA Glu-Term 79 Takata (1997) Brain Dev 19, 111
CM940846 TGG-TAG Trp-Term 81 Eng (1994) Hum Mol Genet 3, 1795
CM032248 TGG-TCG Trp-Ser 81 Rodriguez-Mari (2003) Hum Mutat 22, 258
CM950586 GGT-GAT Gly-Asp 85 Madsen (1995) Hum Mutat 5, 277
CM972765 TAT-TGT Tyr-Cys 86 Eng (1997) Mol Med 3, 174
CM002607 TATg-TAG Tyr-Term 86 Lee (2000) Clin Genet 58, 228
HM971741 gTAC-GAC Tyr-Asp 88 Cooper (2000) Hum Genet 107 535
CM972766 CTC-CCC Leu-Pro 89 Eng (1997) Mol Med 3, 174
CM940847 CTC-CGC Leu-Arg 89 Eng (1994) Hum Mol Genet 3, 1795
CM972767 ATT-ACT Ile-Thr 91 Eng (1997) Mol Med 3, 174
CM012369 tGAT-AAT Asp-Asn 92 Ashley (2001) J Hum Genet 46, 192
CM960761 tGAT-CAT Asp-His 92 Davies (1996) Eur J Hum Genet 4, 219
CM972794 tGAT-TAT Asp-Tyr 92 Eng (1997) Mol Med 3, 174
CM960762 GAC-GGC Asp-Gly 93 Davies (1996) Eur J Hum Genet 4, 219
CM066855 GAC-GTC Asp-Val 93 Shabbeer (2006) Hum Genomics 2, 297
CM051063 tGAC-AAC Asp-Asn 93 Shabbeer (2005) Hum Mutat 25, 299
CM972768 TGT-TAT Cys-Tyr 94 Eng (1997) Mol Med 3, 174
CM012955 TGT-TCT Cys-Ser 94 Blaydon (2001) Hum Mutat 18, 459
CM032249 TGG-TAG Trp-Term 95 Rodriguez-Mari (2003) Hum Mutat 22, 258
CM003743 TGG-TCG Trp-Ser 95 Ashton-Prolla (2000) J Investig Med 48, 227
CM972769 GCT-GTT Ala-Val 97 Eng (1997) Mol Med 3, 174
CM023734 gGCT-CCT Ala-Pro 97 Kimura (2002) Br J Dermatol 147, 545
CM940848 cCAA-TAA Gln-Term 99 Eng (1994) Hum Mol Genet 3, 1795
CM940849 AGA-AAA Arg-Lys 100 Eng (1994) Hum Mol Genet 3, 1795
CM972795 AGA-ACA Arg-Thr 100 Eng (1997) Mol Med 3, 174
CM080391 TCA-TGA Ser-Term 102 Shimotori (2008) Hum Mutat 29, 331
CM051521 aGAA-CAA Glu-Gln 103 Schafer (2005) Hum Mutat 25, 412
CM066854 CTT-CGT Leu-Arg 106 Wattanasirichaigoon (2006) J Med Assoc Thai 89, 1528
CM960763 tCAG-TAG Gln-Term 107 Davies (1996) Eur J Hum Genet 4, 219
CM940850 CGC-CAC Arg-His 112 Eng (1994) Hum Mol Genet 3, 1795
CM051064 gCGC-AGC Arg-Ser 112 Shabbeer (2005) Hum Mutat 25, 299
CM920311 gCGC-TGC Arg-Cys 112 Ishii (1992) Hum Genet 89, 29
CM972770 cTTT-CTT Phe-Leu 113 Eng (1997) Mol Med 3, 174
CM012956 TTT-TCT Phe-Ser 113 Blaydon (2001) Hum Mutat 18, 459
CM061789 tCGC-TGC Arg-Cys 118 Spada (2006) Am J Hum Genet 79, 31
CM960764 cCAG-TAG Gln-Term 119 Davies (1996) Eur J Hum Genet 4, 219
CM044636 aGCT-CCT Ala-Pro 121 Lorenz (2003) Wien Klin Wochenschr 115, 235
CM080384 CAC-CCC His-Pro 125 Auray-Blais (2008) Mol Genet Metab 93, 331
CM025441 cAGC-GGC Ser-Gly 126 Branton (2002) Medicine (Baltimore) 81, 122
CM066848 cAAA-TAA Lys-Term 127 Shabbeer (2006) Hum Genomics 2, 297
CM960765 GGA-GAA Gly-Glu 128 Blanch (1996) Hum Mutat 8, 38
CM013727 CTG-CCG Leu-Pro 129 Whybra (2001) J Inherit Metab Dis 24, 715
CM940851 CTA-CCA Leu-Pro 131 Eng (1994) Hum Mol Genet 3, 1795
CM023787 aGGG-AGG Gly-Arg 132 Shabbeer (2002) Mol Genet Metab 76, 23
CM972771 TAT-TCT Tyr-Ser 134 Eng (1997) Mol Med 3, 174
CM003744 TATg-TAG Tyr-Term 134 Ashton-Prolla (2000) J Investig Med 48, 227
CM051065 GCA-GTA Ala-Val 135 Shabbeer (2005) Hum Mutat 25, 299
CM012370 aGAT-CAT Asp-His 136 Ashley (2001) J Hum Genet 46, 192
CM024289 GGA-GAA Gly-Glu 138 Germain (2002) Mol Med 8, 306
CM972772 tGGA-AGA Gly-Arg 138 Eng (1997) Mol Med 3, 174
CM023788 ACC-ATC Thr-Ile 141 Shabbeer (2002) Mol Genet Metab 76, 23
CM993653 cTGC-CGC Cys-Arg 142 Topaloglu (1999) Mol Med 5, 806
CM950587 TGC-TAC Cys-Tyr 142 Okumiya (1995) Hum Genet 95, 557
CM993654 TGCg-TGA Cys-Term 142 Topaloglu (1999) Mol Med 5, 806
CM051522 TGCg-TGG Cys-Trp 142 Schafer (2005) Hum Mutat 25, 412
CM972773 cGCA-ACA Ala-Thr 143 Eng (1997) Mol Med 3, 174
CM940852 cGCA-CCA Ala-Pro 143 Eng (1994) Hum Mol Genet 3, 1795
CM940853 GGC-GTC Gly-Val 144 Eng (1994) Hum Mol Genet 3, 1795
CM940854 cCCT-TCT Pro-Ser 146 Ploos van Amstel (1994) Hum Mol Genet 3, 503
CM051523 tGGG-AGG Gly-Arg 147 Schafer (2005) Hum Mutat 25, 412
CM003745 AGT-AAT Ser-Asn 148 Ashton-Prolla (2000) J Investig Med 48, 227
CM972774 AGTt-AGG Ser-Arg 148 Eng (1997) Mol Med 3, 174
CM051066 TACt-TAG Tyr-Term 151 Shabbeer (2005) Hum Mutat 25, 299
CM023789 TACg-TAA Tyr-Term 152 Shabbeer (2002) Mol Genet Metab 76, 23
CM053274 tGAT-CAT Asp-His 155 Dobrovolny (2005) J Mol Med 83, 647
CM950588 GCC-GTC Ala-Val 156 Okumiya (1995) Hum Genet 95, 557
CM940855 tGCC-ACC Ala-Thr 156 Eng (1994) Hum Mutat 3, 103
CM940856 cCAG-TAG Gln-Term 157 Eng (1994) Hum Mol Genet 3, 1795
CM930326 cTGG-CGG Trp-Arg 162 Eng (1993) Am J Hum Genet 53, 1186
CM993451 TGG-TAG Trp-Term 162 Rosenberg (1999) Hum Mutat 15, 207
CM960766 TGGg-TGC Trp-Cys 162 Germain (1996) Hum Genet 98, 719
CM972775 GGA-GTA Gly-Val 163 Eng (1997) Mol Med 3, 174
CM076218 aGAT-CAT Asp-His 165 Rakoczi (2007) Orv Hetil 148, 1087
CM940857 GAT-GTT Asp-Val 165 Davies (1994) Hum Mol Genet 3, 667
CM950589 tCTG-GTG Leu-Val 166 Okumiya (1995) Hum Genet 95, 557
CM033383 CTA-CCA Leu-Pro 167 Morrone (2003) J Med Genet 40, e103
CM023790 AAA-AGA Lys-Arg 168 Shabbeer (2002) Mol Genet Metab 76, 23
HM971743 TTT-TCT Phe-Ser 169 Cooper (2000) Hum Genet 107 535
CM972776 GAT-GTT Asp-Val 170 Eng (1997) Mol Med 3, 174
CM032250 tGAT-CAT Asp-His 170 Rodriguez-Mari (2003) Hum Mutat 22, 258
CM051067 GGT-GAT Gly-Asp 171 Shabbeer (2005) Hum Mutat 25, 299
CM053276 tGGT-CGT Gly-Arg 171 Dobrovolny (2005) J Mol Med 83, 647
CM083703 tGGT-TGT Gly-Cys 171 Nagasaki (2008) J Dermatol Sci 52, 61
CM940858 TGT-TAT Cys-Tyr 172 Eng (1994) Hum Mol Genet 3, 1795
CM012371 TGT-TTT Cys-Phe 172 Ashley (2001) J Hum Genet 46, 192
CM051524 TGTt-TGG Cys-Trp 172 Schafer (2005) Hum Mutat 25, 412
CM003746 tTGT-CGT Cys-Arg 172 Ashton-Prolla (2000) J Investig Med 48, 227
CM033384 tTGT-GGT Cys-Gly 172 Yasuda (2003) Hum Mutat 22, 486
CM066859 TACt-TAA Tyr-Term 173 Shabbeer (2006) Hum Genomics 2, 297
CM051068 TTG-TAG Leu-Term 177 Shabbeer (2005) Hum Mutat 25, 299
CM993655 GGT-GAT Gly-Asp 183 Topaloglu (1999) Mol Med 5, 806
CM023791 tGGT-AGT Gly-Ser 183 Shabbeer (2002) Mol Genet Metab 76, 23
CM066845 ATG-ACG Met-Thr 187 Shabbeer (2006) Hum Genomics 2, 297
CM003747 cATG-GTG Met-Val 187 Ashton-Prolla (2000) J Investig Med 48, 227
CM012372 CTG-CAG Leu-Gln 191 Ashley (2001) J Hum Genet 46, 192
HM971742 CTG-CCG Leu-Pro 191 Cooper (2000) Hum Genet 107 535
CM051525 ACT-ATT Thr-Ile 194 Schafer (2005) Hum Mutat 25, 412
CM023792 tGTG-ATG Val-Met 199 Shabbeer (2002) Mol Genet Metab 76, 23
CM066861 TCC-TAC Ser-Tyr 201 Shabbeer (2006) Hum Genomics 2, 297
CM051069 TCC-TTC Ser-Phe 201 Shabbeer (2005) Hum Mutat 25, 299
CM972777 TGT-TAT Cys-Tyr 202 Eng (1997) Mol Med 3, 174
CM940859 TGTg-TGG Cys-Trp 202 Ploos van Amstel (1994) Hum Mol Genet 3, 503
CM003748 TGG-TAG Trp-Term 204 Ashton-Prolla (2000) J Investig Med 48, 227
CM023793 CCT-CGT Pro-Arg 205 Shabbeer (2002) Mol Genet Metab 76, 23
CM051526 CCT-CTT Pro-Leu 205 Schafer (2005) Hum Mutat 25, 412
CM960767 gCCT-ACT Pro-Thr 205 Blanch (1996) Hum Mutat 8, 38
CM023794 TAT-TCT Tyr-Ser 207 Shabbeer (2002) Mol Genet Metab 76, 23
CM930327 AAT-AGT Asn-Ser 215 Davies (1993) Hum Mol Genet 2, 1051
CM972778 tTAT-GAT Tyr-Asp 216 Eng (1997) Mol Med 3, 174
CM940860 cCGA-TGA Arg-Term 220 Meaney (1994) Hum Mol Genet 3, 1019
CM023795 aCAG-TAG Gln-Term 221 Shabbeer (2002) Mol Genet Metab 76, 23
CM030675 TACt-TAA Tyr-Term 222 Yang (2003) Clin Genet 63, 205
CM023796 cTGC-CGC Cys-Arg 223 Shabbeer (2002) Mol Genet Metab 76, 23
CM990694 cTGC-GGC Cys-Gly 223 Germain (1999) Biochem Biophys Res Commun 257, 708
CM023797 TGC-TAC Cys-Tyr 223 Shabbeer (2002) Mol Genet Metab 76, 23
CM003749 AAT-AGT Asn-Ser 224 Ashton-Prolla (2000) J Investig Med 48, 227
CM980940 cAAT-GAT Asn-Asp 224 Guffon (1998) Hum Mutat S1, S288
CM056592 CAC-CGC His-Arg 225 Politei (2005) Rev Neurol 41, 506
CM003750 cTGG-CGG Trp-Arg 226 Ashton-Prolla (2000) J Investig Med 48, 227
CM940861 TGG-TAG Trp-Term 226 Davies (1994) Hum Mol Genet 3, 667
CM032251 TGGc-TGT Trp-Cys 226 Rodriguez-Mari (2003) Hum Mutat 22, 258
CM930328 CGA-CAA Arg-Gln 227 Eng (1993) Am J Hum Genet 53, 1186
CM930329 gCGA-TGA Arg-Term 227 Davies (1993) Hum Mol Genet 2, 1051
CM003751 tGCT-ACT Ala-Thr 230 Ashton-Prolla (2000) J Investig Med 48, 227
CM080389 GAC-GTC Asp-Val 231 Shimotori (2008) Hum Mutat 29, 331
CM960768 tGAC-AAC Asp-Asn 231 Redonnet-Vernhet (1996) J Med Genet 33, 682
CM051070 GATt-GAG Asp-Glu 234 Shabbeer (2005) Hum Mutat 25, 299
CM023798 tGAT-TAT Asp-Tyr 234 Shabbeer (2002) Mol Genet Metab 76, 23
CM993656 TCC-TGC Ser-Cys 235 Topaloglu (1999) Mol Med 5, 806
CM080392 TCC-TTC Ser-Phe 235 Shimotori (2008) Hum Mutat 29, 331
CM066853 cTGG-CGG Trp-Arg 236 Shabbeer (2006) Hum Genomics 2, 297
CM024290 TGG-TAG Trp-Term 236 Germain (2002) Mol Med 8, 306
CM993657 TGG-TTG Trp-Leu 236 Topaloglu (1999) Mol Med 5, 806
CM960769 TGGa-TGC Trp-Cys 236 Davies (1996) Eur J Hum Genet 4, 219
CM077750 AGT-AAT Ser-Asn 238 Monserrat (2007) J Am Coll Cardiol 50, 2399
CM044637 ATA-ACA Ile-Thr 239 Kotanko (2004) J Am Soc Nephrol 15, 1323
CM972904 ATC-AAC Ile-Asn 242 Takata (1997) Brain Dev 19, 111
CM024291 TTGg-TTC Leu-Phe 243 Germain (2002) Mol Med 8, 306
CM940862 gGAC-AAC Asp-Asn 244 Eng (1994) Hum Mol Genet 3, 1795
CM993658 gGAC-CAC Asp-His 244 Topaloglu (1999) Mol Med 5, 806
CM024292 TGG-TAG Trp-Term 245 Germain (2002) Mol Med 8, 306
CM012373 aTCT-CCT Ser-Pro 247 Ashley (2001) J Hum Genet 46, 192
CM024293 TCT-TGT Ser-Cys 247 Germain (2002) Mol Med 8, 306
CM083702 CAG-CCG Gln-Pro 250 Nagasaki (2008) J Dermatol Sci 52, 61
CM012374 cCAG-TAG Gln-Term 250 Ashley (2001) J Hum Genet 46, 192
CM016083 gGAG-TAG Glu-Term 251 Altarescu (2001) Clin Genet 60, 46
HM971746 tGCT-CCT Ala-Pro 257 Cooper (2000) Hum Genet 107 535
CM080390 GGA-GTA Gly-Val 258 Shimotori (2008) Hum Mutat 29, 331
CM012957 tGGA-CGA Gly-Arg 258 Blaydon (2001) Hum Mutat 18, 459
CM012375 CCA-CGA Pro-Arg 259 Ashley (2001) J Hum Genet 46, 192
CM993659 CCA-CTA Pro-Leu 259 Topaloglu (1999) Mol Med 5, 806
CM952030 GGG-GCG Gly-Ala 260 Okumiya (1995) Biochem Biophys Res Commun 214, 1219
CM972905 GGT-GAT Gly-Asp 261 Takata (1997) Brain Dev 19, 111
CM066863 TGG-TAG Trp-Term 262 Shabbeer (2006) Hum Genomics 2, 297
CM051527 TGGa-TGC Trp-Cys 262 Schafer (2005) Hum Mutat 25, 412
CM972779 AAT-AGT Asn-Ser 263 Eng (1997) Mol Med 3, 174
CM930330 GAC-GTC Asp-Val 264 Eng (1993) Am J Hum Genet 53, 1186
CM051071 tGAC-TAC Asp-Tyr 264 Shabbeer (2005) Hum Mutat 25, 299
CM960770 CCA-CGA Pro-Arg 265 Germain (1996) Hum Genet 98, 719
CM051528 CCA-CTA Pro-Leu 265 Schafer (2005) Hum Mutat 25, 412
CM002608 aGAT-AAT Asp-Asn 266 Lee (2000) Clin Genet 58, 228
CM003752 aGAT-CAT Asp-His 266 Ashton-Prolla (2000) J Investig Med 48, 227
CM085978 aGAT-TAT Asp-Tyr 266 Erdos (2008) Mol Genet Metab 95, 224
CM930331 GAT-GTT Asp-Val 266 Eng (1993) Am J Hum Genet 53, 1186
CM024294 GATa-GAA Asp-Glu 266 Germain (2002) Mol Med 8, 306
CM066846 ATG-AGG Met-Arg 267 Shabbeer (2006) Hum Genomics 2, 297
CM993660 ATGg-ATA Met-Ile 267 Topaloglu (1999) Mol Med 5, 806
CM051529 TTA-TCA Leu-Ser 268 Schafer (2005) Hum Mutat 25, 412
CM066844 aGTG-ATG Val-Met 269 Shabbeer (2006) Hum Genomics 2, 297
CM930332 GTG-GCG Val-Ala 269 Davies (1993) Hum Mol Genet 2, 1051
CM051530 ATT-ACT Ile-Thr 270 Schafer (2005) Hum Mutat 25, 412
CM066858 GGC-GTC Gly-Val 271 Shabbeer (2006) Hum Genomics 2, 297
CM066864 tGGC-AGC Gly-Ser 271 Shabbeer (2006) Hum Genomics 2, 297
CM023799 tGGC-TGC Gly-Cys 271 Shabbeer (2002) Mol Genet Metab 76, 23
CM045902 AAC-AGC Asn-Ser 272 Verovnik (2004) Eur J Hum Genet 12, 678
CM940863 AACt-AAA Asn-Lys 272 Eng (1994) Hum Mol Genet 3, 1795
CM051531 AGC-AAC Ser-Asn 276 Schafer (2005) Hum Mutat 25, 412
CM051072 cAGC-GGC Ser-Gly 276 Shabbeer (2005) Hum Mutat 25, 299
CM993661 TGG-TAG Trp-Term 277 Topaloglu (1999) Mol Med 5, 806
CM032252 CAG-CGG Gln-Arg 279 Rodriguez-Mari (2003) Hum Mutat 22, 258
CM012958 CAGc-CAC Gln-His 279 Blaydon (2001) Hum Mutat 18, 459
CM940864 tCAG-GAG Gln-Glu 279 Ishii (1992) Hum Genet 89, 29
CM012959 CAAg-CAT Gln-His 280 Blaydon (2001) Hum Mutat 18, 459
CM053273 gCAA-AAA Gln-Lys 280 Dobrovolny (2005) J Mol Med 83, 647
CM080382 aACT-GCT Thr-Ala 282 Shimotori (2008) Hum Mutat 29, 331
CM012376 ACT-AAT Thr-Asn 282 Ashley (2001) J Hum Genet 46, 192
CM066849 CAG-CCG Gln-Pro 283 Shabbeer (2006) Hum Genomics 2, 297
CM960771 ATG-ACG Met-Thr 284 Blanch (1996) Hum Mutat 8, 38
CM066857 GCC-GAC Ala-Asp 285 Shabbeer (2006) Hum Genomics 2, 297
CM051073 gGCC-CCC Ala-Pro 285 Shabbeer (2005) Hum Mutat 25, 299
CM960772 cTGG-GGG Trp-Gly 287 Davies (1996) Eur J Hum Genet 4, 219
CM930333 TGGg-TGA Trp-Term 287 Davies (1993) Hum Mol Genet 2, 1051
CM003753 TGGg-TGT Trp-Cys 287 Ashton-Prolla (2000) J Investig Med 48, 227
CM940865 GCT-GAT Ala-Asp 288 Eng (1994) Hum Mol Genet 3, 1795
CM023800 gGCT-CCT Ala-Pro 288 Shabbeer (2002) Mol Genet Metab 76, 23
CM076219 ATC-AGC Ile-Ser 289 Rakoczi (2007) Orv Hetil 148, 1087
CM993662 tATC-TTC Ile-Phe 289 Topaloglu (1999) Mol Med 5, 806
CM066847 ATGg-ATA Met-Ile 290 Shabbeer (2006) Hum Genomics 2, 297
CM077575 gGCT-ACT Ala-Thr 291 Zhang (2007) J Nephrol 20, 716
HM0683 tGCT-ACT Ala-Thr 292 Spanu (2007) Hum Genet 121 295
CM057991 tGCT-CCT Ala-Pro 292 Wang (2005) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22, 489
CM066862 tCCT-ACT Pro-Thr 293 Shabbeer (2006) Hum Genomics 2, 297
CM023801 tCCT-GCT Pro-Ala 293 Shabbeer (2002) Mol Genet Metab 76, 23
HM971747 tCCT-TCT Pro-Ser 293 Cooper (2000) Hum Genet 107 535
CM012960 TTA-TGA Leu-Term 294 Blaydon (2001) Hum Mutat 18, 459
CM950590 ATGt-ATA Met-Ile 296 Nakao (1995) N Engl J Med 333, 288
CM910180 cATG-GTG Met-Val 296 von Scheidt (1991) N Engl J Med 324, 395
CM024295 TCT-TGT Ser-Cys 297 Germain (2002) Mol Med 8, 306
CM930334 TCT-TTT Ser-Phe 297 Eng (1993) Am J Hum Genet 53, 1186
CM972780 AAT-AGT Asn-Ser 298 Eng (1997) Mol Med 3, 174
CM960773 AATg-AAG Asn-Lys 298 Blanch (1996) Hum Mutat 8, 38
CM960774 tAAT-CAT Asn-His 298 Davies (1996) Eur J Hum Genet 4, 219
CM051074 cCTC-TTC Leu-Phe 300 Shabbeer (2005) Hum Mutat 25, 299
CM051532 CTC-CAC Leu-His 300 Schafer (2005) Hum Mutat 25, 412
HM972098 cCGA-GGA Arg-Gly 301 Lai (2001) Hum Genet 109 469
CM940866 cCGA-TGA Arg-Term 301 Eng (1994) Hum Mol Genet 3, 1795
CM900111 CGA-CAA Arg-Gln 301 Sakuraba (1990) Am J Hum Genet 47, 784
CM012377 CGA-CCA Arg-Pro 301 Ashley (2001) J Hum Genet 46, 192
CM023802 ATC-AAC Ile-Asn 303 Shabbeer (2002) Mol Genet Metab 76, 23
CM066860 tCAA-TAA Gln-Term 306 Shabbeer (2006) Hum Genomics 2, 297
CM080381 AAAg-AAT Lys-Asn 308 Shimotori (2008) Hum Mutat 29, 331
HM040056 tCTC-TTC Leu-Phe 310 Calado (2004) Hum Genet 115 347
CM080386 CAG-CGG Gln-Arg 312 Shimotori (2008) Hum Mutat 29, 331
CM066852 CAGg-CAT Gln-His 312 Shabbeer (2006) Hum Genomics 2, 297
CM930335 gGAT-TAT Asp-Tyr 313 Eng (1993) Am J Hum Genet 53, 1186
CM940867 GTA-GAA Val-Glu 316 Davies (1994) Hum Mol Genet 3, 667
CM051533 ATT-AAT Ile-Asn 317 Schafer (2005) Hum Mutat 25, 412
CM023803 ATT-ACT Ile-Thr 317 Shabbeer (2002) Mol Genet Metab 76, 23
CM051534 AAT-ATT Asn-Ile 320 Schafer (2005) Hum Mutat 25, 412
CM952031 AATc-AAG Asn-Lys 320 Okumiya (1995) Biochem Biophys Res Commun 214, 1219
CM003754 cAAT-TAT Asn-Tyr 320 Ashton-Prolla (2000) J Investig Med 48, 227
CM066851 CAG-CGG Gln-Arg 321 Shabbeer (2006) Hum Genomics 2, 297
CM080387 CAG-CTG Gln-Leu 321 Auray-Blais (2008) Mol Genet Metab 93, 331
CM993663 tCAG-GAG Gln-Glu 321 Topaloglu (1999) Mol Med 5, 806
CM051535 tCAG-TAG Gln-Term 321 Schafer (2005) Hum Mutat 25, 412
CM051536 GGC-GAC Gly-Asp 325 Schafer (2005) Hum Mutat 25, 412
CM930336 gCAA-AAA Gln-Lys 327 Davies (1993) Hum Mol Genet 2, 1051
CM051537 gCAA-GAA Gln-Glu 327 Schafer (2005) Hum Mutat 25, 412
CM920312 aGGG-AGG Gly-Arg 328 Ishii (1992) Hum Genet 89, 29
CM930337 GGG-GCG Gly-Ala 328 Eng (1993) Am J Hum Genet 53, 1186
CM051075 GGG-GTG Gly-Val 328 Shabbeer (2005) Hum Mutat 25, 299
CM051538 cCAG-TAG Gln-Term 330 Dobrovolny (2005) Am J Med Genet 134A, 84
CM034522 aCAG-TAG Gln-Term 333 Lorenz (2003) Wien Klin Wochenschr 115, 235
CM051076 tGAA-AAA Glu-Lys 338 Shabbeer (2005) Hum Mutat 25, 299
CM051077 tGAA-TAA Glu-Term 338 Shabbeer (2005) Hum Mutat 25, 299
CM960775 gTGG-CGG Trp-Arg 340 Davies (1996) Eur J Hum Genet 4, 219
CM930338 TGGg-TGA Trp-Term 340 Eng (1993) Am J Hum Genet 53, 1186
CM023804 GAAc-GAC Glu-Asp 341 Shabbeer (2002) Mol Genet Metab 76, 23
CM990695 gGAA-AAA Glu-Lys 341 Beyer (1999) Clin Chim Acta 280, 81
CM930339 aCGA-TGA Arg-Term 342 Davies (1993) Hum Mol Genet 2, 1051
CM940868 CGA-CAA Arg-Gln 342 Ploos van Amstel (1994) Hum Mol Genet 3, 503
CM051539 CTC-CCC Leu-Pro 344 Schafer (2005) Hum Mutat 25, 412
CM051540 cTCA-CCA Ser-Pro 345 Schafer (2005) Hum Mutat 25, 412
CM066843 aGCC-CCC Ala-Pro 348 Shabbeer (2006) Hum Genomics 2, 297
CM012378 TGG-TAG Trp-Term 349 Ashley (2001) J Hum Genet 46, 192
CM051541 gGCT-CCT Ala-Pro 350 Schafer (2005) Hum Mutat 25, 412
CM033385 GCT-GAT Ala-Asp 352 Morrone (2003) J Med Genet 40, e103
CM024296 AACc-AAA Asn-Lys 355 Germain (2002) Mol Med 8, 306
CM890057 cCGG-TGG Arg-Trp 356 Bernstein (1989) J Clin Invest 83, 1390
HM971748 gCAG-TAG Gln-Term 357 Cooper (2000) Hum Genet 107 535
CM066856 GAG-GCG Glu-Ala 358 Shabbeer (2006) Hum Genomics 2, 297
CM024297 GAG-GGG Glu-Gly 358 Germain (2002) Mol Med 8, 306
CM980941 gGAG-AAG Glu-Lys 358 Miyazaki (1998) Hum Mutat S1, S139
CM053275 tGGT-AGT Gly-Ser 360 Dobrovolny (2005) J Mol Med 83, 647
HM070030 tGGT-TGT Gly-Cys 360 Lin (2007) Hum Genet 122 212
CM930340 tGGA-AGA Gly-Arg 361 Davies (1993) Hum Mol Genet 2, 1051
CM023805 CCT-CTT Pro-Leu 362 Shabbeer (2002) Mol Genet Metab 76, 23
HM971744 CGC-CAC Arg-His 363 Cooper (2000) Hum Genet 107 535
CM023806 tCGC-TGC Arg-Cys 363 Shabbeer (2002) Mol Genet Metab 76, 23
CM960776 TATa-TAA Tyr-Term 365 Miyamura (1996) J Clin Invest 98, 1809
CM952032 gGGT-AGT Gly-Ser 373 Okumiya (1995) Biochem Biophys Res Commun 214, 1219
CM012768 GGT-GAT Gly-Asp 373 Germain (2001) Hum Mutat 17, 353
CM012961 GCC-GAC Ala-Asp 377 Blaydon (2001) Hum Mutat 18, 459
CM025428 cTGT-CGT Cys-Arg 378 Garman (2002) Mol Genet Metab 77, 3
CM993664 TGT-TAT Cys-Tyr 378 Topaloglu (1999) Mol Med 5, 806
CM032253 TGC-TAC Cys-Tyr 382 Rodriguez-Mari (2003) Hum Mutat 22, 258
CM025198 TGCt-TGG Cys-Trp 382 Galanos (2002) Intern Med J 32, 575
CM023807 ATC-AAC Ile-Asn 384 Shabbeer (2002) Mol Genet Metab 76, 23
CM023808 cACA-CCA Thr-Pro 385 Shabbeer (2002) Mol Genet Metab 76, 23
CM972781 aCAG-TAG Gln-Term 386 Eng (1997) Mol Med 3, 174
CM066850 CAG-CCG Gln-Pro 386 Shabbeer (2006) Hum Genomics 2, 297
CM023809 tGAA-AAA Glu-Lys 398 Shabbeer (2002) Mol Genet Metab 76, 23
CM930341 tGAA-TAA Glu-Term 398 Eng (1993) Am J Hum Genet 53, 1186
CM972782 TGG-TAG Trp-Term 399 Eng (1997) Mol Med 3, 174
CM023810 TCA-TGA Ser-Term 401 Shabbeer (2002) Mol Genet Metab 76, 23
CM080393 TTA-TCA Leu-Ser 403 Shimotori (2008) Hum Mutat 29, 331
CM032254 ATA-AAA Ile-Lys 407 Rodriguez-Mari (2003) Hum Mutat 22, 258
CM012963 tCCC-ACC Pro-Thr 409 Blaydon (2001) Hum Mutat 18, 459
CM012962 tCCC-GCC Pro-Ala 409 Blaydon (2001) Hum Mutat 18, 459
CM024298 tCCC-TCC Pro-Ser 409 Germain (2002) Mol Med 8, 306
CM012379 ACA-AAA Thr-Lys 410 Ashley (2001) J Hum Genet 46, 192
CM080385 cACA-CCA Thr-Pro 410 Shimotori (2008) Hum Mutat 29, 331
CM030676 cACA-GCA Thr-Ala 410 Yang (2003) Clin Genet 63, 205
CM031191 GGC-GAC Gly-Asp 411 Guffon (2003) J Med Genet 40, e38
CM032255 TTG-TCG Leu-Ser 414 Rodriguez-Mari (2003) Hum Mutat 22, 258
HM060562 CTT-CCT Leu-Pro 415 Serebrinsky (2006) Hum Genet 119 361

</figtable>

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