Difference between revisions of "Hemochromatosis SNPdbe SNP TABLE"
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| + | |+ style="caption-side: bottom; text-align: left" | <font size=1>'''Table 1''': List of all (unique) SNPs for HFE from SNPdbe. Query terms used were Q30201, NP_000401, and HFE. Only results for the human organism were selected. All the positions are adjusted to fit the Q30201 sequence. For a SNP to be "disease causing" the wild type had to have a residue conservation of over 40 or it had to be already listed as "disease hemochromatosis". |
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| − | |+ style="caption-side: bottom; text-align: left" | <font size=1>'''TODO''': description. |
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Latest revision as of 12:48, 10 June 2012
<figtable id="snpdbe_snps">
| dbSNP ID | Sequence | Type | Amino acid change | Position | Effect | Experimental evidence |
|---|---|---|---|---|---|---|
| rs149342416 | NP_000401 | Non-synonymous | Arg-Ser | 6 | Disease causing | freq |
| rs143662783 | NP_000401 | Non-synonymous | Thr-Ile | 17 | Disease causing | freq |
| rs148161858 | NP_000401 | Non-synonymous | Arg-His | 23 | No effect | cluster,freq,1000Genome |
| N/A | Q30201 | Non-synonymous | Arg-Leu | 26 | No effect | Not validated |
| rs2242956 | NP_000401 | Non-synonymous | Met-Thr | 35 | No effect | cluster |
| N/A | Q30201 | Non-synonymous | Gly-Asp | 43 | Disease causing | Not validated |
| rs28934889 | NP_000401 | Non-synonymous | Val-Met | 53 | Disease causing | cluster,freq,1000Genome |
| rs28934890 | NP_000401 | Non-synonymous | Val-Met | 59 | No effect | cluster |
| rs1799945 | NP_000401 | Non-synonymous | His-Asp | 63 | Disease causing | cluster,freq,1000Genome |
| rs1800730 | NP_000401 | Non-synonymous | Ser-Cys | 65 | Disease causing | cluster,freq,1000Genome |
| N/A | Q30201 | Non-synonymous | Arg-Cys | 66 | Disease causing | Not validated |
| N/A | B990874 | Non-synonymous | Arg-Glu | 66 | No effect | Not validated |
| rs139523708 | NP_000401 | Non-synonymous | Arg-His | 67 | No effect | Not validated |
| rs28934597 | NP_000401 | Non-synonymous | Gly-Arg | 93 | Disease causing | cluster |
| N/A | B990874 | Non-synonymous | Val-Ala | 100 | No effect | Not validated |
| N/A | A001949 | Non-synonymous | Trp-Ala | 103 | No effect | Not validated |
| rs28934596 | NP_000401 | Non-synonymous | Ile-Thr | 105 | Disease causing | cluster |
| N/A | NP_000401 | Non-synonymous | Met-Thr | 106 | No effect | Not validated |
| rs28934595 | NP_000401 | Non-synonymous | Gln-His | 127 | Disease causing | cluster |
| rs149662565 | NP_000401 | Non-synonymous | Pro-Thr | 160 | No effect | Not validated |
| rs145475682 | NP_000401 | Non-synonymous | Ala-Ser | 162 | No effect | freq |
| N/A | B990874 | Non-synonymous | Trp-Ala | 163 | No effect | Not validated |
| rs144170531 | NP_000401 | Non-synonymous | Lys-Glu | 166 | No effect | freq |
| rs146519482 | NP_000401 | Non-synonymous | Glu-Gln | 168 | No effect | Not validated |
| N/A | Q30201 | Non-synonymous | Ala-Val | 176 | Disease causing | Not validated |
| N/A | NP_000401 | Non-synonymous | Leu-Pro | 183 | No effect | Not validated |
| N/A | B990874 | Non-synonymous | Pro-Val | 188 | No effect | Not validated |
| rs4986950 | NP_000401 | Non-synonymous | Thr-Ile | 217 | No effect | cluster,freq |
| N/A | Q30201 | Non-synonymous | Arg-Gly | 224 | Disease causing | Not validated |
| rs144797937 | NP_000401 | Non-synonymous | Arg-Trp | 224 | No effect | freq |
| rs62625346 | NP_000401 | Non-synonymous | Arg-Gln | 224 | No effect | cluster,freq |
| N/A | Q30201 | Non-synonymous | Tyr-His | 230 | No effect | Not validated |
| rs140515012 | NP_000401 | Non-synonymous | Pro-Ala | 245 | No effect | Not validated |
| N/A | Q30201 | Non-synonymous | Ala-Thr | 248 | No effect | Not validated |
| rs150402693 | NP_000401 | Non-synonymous | Phe-Leu | 251 | No effect | Not validated |
| rs138176635 | NP_000401 | Non-synonymous | Glu-Gly | 252 | No effect | Not validated |
| N/A | Q30201 | Non-synonymous | Val-Ala | 256 | No effect | Not validated |
| rs143846467 | NP_000401 | Non-synonymous | Asn-Ser | 259 | Disease causing | Not validated |
| N/A | Q30201 | Non-synonymous | Gly-Glu | 275 | No effect | Not validated |
| rs140080192 | NP_000401 | Non-synonymous | Glu-Lys | 277 | No effect | cluster,freq,1000Genome |
| rs1800562 | NP_000401 | Non-synonymous | Cys-Tyr | 282 | Disease causing | cluster,freq,1000Genome |
| rs111033563 | NP_000401 | Non-synonymous | Gln-Pro | 283 | Disease causing | cluster |
| rs143175221 | NP_000401 | Non-synonymous | Val-Ala | 295 | Disease causing | freq |
| N/A | Q30201 | Non-synonymous | Ser-Arg | 311 | No effect | Not validated |
| rs147519426 | NP_000401 | Non-synonymous | Val-Gly | 315 | Disease causing | freq |
| rs141229562 | NP_000401 | Non-synonymous | Val-Ile | 318 | No effect | Not validated |
| rs150716212 | NP_000401 | Non-synonymous | Ile-Thr | 322 | Disease causing | Not validated |
| rs138993448 | NP_000401 | Non-synonymous | Ile-Thr | 327 | No effect | Not validated |
| rs111033558 | NP_000401 | Non-synonymous | Arg-Met | 330 | Disease causing | cluster |
| N/A | Q30201 | Non-synonymous | Met-Val | 339 | No effect | Not validated |
| rs146508927 | NP_000401 | Non-synonymous | Arg-His | 347 | No effect | freq |
</figtable>
