Difference between revisions of "Hemochromatosis HGMD SNP TABLE"
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10401000&dopt=Abstract de Villiers (1999) Hum Mol Genet 8, 1517] |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10401000&dopt=Abstract de Villiers (1999) Hum Mol Genet 8, 1517] |
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| − | |+ style="caption-side: bottom; text-align: left" | <font size=1>''' |
+ | |+ style="caption-side: bottom; text-align: left" | <font size=1>'''Table 1''': List of all missense/nonsense SNPs for HFE from the non-professional version of HGMD. |
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Latest revision as of 12:24, 10 June 2012
<figtable id="hgmd_snps">
| ID | Type | Codon change | Amino acid change | Position | Phenotype | Reference |
|---|---|---|---|---|---|---|
| CM032270 | Non-synonymous | AGGc-AGC | Arg-Ser | 6 | Haemochromatosis | Wigg (2003) Gut 52, 433 |
| CM994469 | Non-synonymous | cGTG-ATG | Val-Met | 53 | Haemochromatosis | de Villiers (1999) Hum Mol Genet 8, 1517 |
| CM994470 | Non-synonymous | cGTG-ATG | Val-Met | 59 | Haemochromatosis | de Villiers (1999) Hum Mol Genet 8, 1517 |
| HM971246 | Synonymous | CATg-CAC | His-His | 63 | Haemochromatosis ? | de Villiers (1998) Hum Genet 102 127 |
| CM960827 | Non-synonymous | tCAT-GAT | His-Asp | 63 | Haemochromatosis, association with | Feder (1996) Nat Genet 13, 399 |
| CM990718 | Non-synonymous | gAGT-TGT | Ser-Cys | 65 | Haemochromatosis, association with | Mura (1999) Blood 93, 2502 |
| CM033969 | Non-synonymous | tCGC-TGC | Arg-Cys | 66 | Altered iron status | Biasiotto (2003) Clin Chem 49, 1981 |
| CM020721 | Nonsense | cCGA-TGA | Arg-Term | 71 | Haemochromatosis | Beutler (2002) Clin Genet 61, 40 |
| CM990719 | Non-synonymous | aGGG-CGG | Gly-Arg | 93 | Haemochromatosis | Barton (1999) Blood Cells Mol Dis 25, 147 |
| CM990720 | Non-synonymous | ATT-ACT | Ile-Thr | 105 | Haemochromatosis | Barton (1999) Blood Cells Mol Dis 25, 147 |
| CM990721 | Non-synonymous | CAAg-CAC | Gln-His | 127 | Haemochromatosis | de Villiers (1999) Hum Mol Genet 8, 1517 |
| CM004810 | Non-synonymous | gGAG-CAG | Glu-Gln | 168 | Haemochromatosis | Oberkanins (2000) Genet Test 4, 121 |
| CM004106 | Nonsense | gGAG-TAG | Glu-Term | 168 | Haemochromatosis | Piperno (2000) Gastroenterology 119, 441 |
| CM004107 | Nonsense | TGG-TAG | Trp-Term | 169 | Haemochromatosis | Piperno (2000) Gastroenterology 119, 441 |
| CM015326 | Non-synonymous | GCC-GTC | Ala-Val | 176 | Haemochromatosis ? | Imanishi (2001) Intern Med 40, 479 |
| CM081301 | Non-synonymous | CTG-CCG | Leu-Pro | 183 | Haemochromatosis | Swinkels (2008) Blood Cells Mol Dis 40, 334 |
| CM034097 | Non-synonymous | CGG-CAG | Arg-Gln | 224 | Altered iron status | Biasiotto (2003) Clin Chem 49, 1981 |
| CM024530 | Non-synonymous | tGTA-TTA | Val-Leu | 272 | Haemochromatosis | Jones (2002) Tissue Antigens 60, 481 |
| CM994771 | Non-synonymous | aGAG-AAG | Glu-Lys | 277 | Diabetes ? | Bradbury (1999) Hum Mutat 15, 120 |
| CM960828 | Non-synonymous | TGC-TAC | Cys-Tyr | 282 | Haemochromatosis, association with | Feder (1996) Nat Genet 13, 399 |
| CM004391 | Non-synonymous | TGC-TCC | Cys-Ser | 282 | Haemochromatosis | Rosmorduc (2000) Gastroenterology 119, 1075 |
| CM032271 | Non-synonymous | CAG-CCG | Gln-Pro | 283 | Haemochromatosis | Le Gac (2003) Blood Cells Mol Dis 30, 231 |
| HM030028 | Non-synonymous | GTG-GCG | Val-Ala | 295 | Haemochromatosis | Bento (2004) Hum Genet 114 405 |
| CM990722 | Non-synonymous | AGG-ATG | Arg-Met | 330 | Haemochromatosis | de Villiers (1999) Hum Mol Genet 8, 1517 |
</figtable>
