Lab Journal - Task 7 (PAH)
From Bioinformatikpedia
Mutation Map
In the table below all 100 SNPs that can be viewed in the mutation map are listed. The second column represent the nucleotide position, the third, which nucleotide is exchanged in which one, the fourth gives the amino acid substitution with codon position and the last column shows the database from which the SNP was taken. We take 50 SNPs of HGMD and 50 SNPs of OMIM and dbSNP. All OMIM SNPs also are found in dbSNP. We only included a few more from dbSNP alone, for which the effect of the SNP is untested in most cases. Except for those few SNPs all others cause PKU according to the databases.
| SNP ID | Pos. (bp) | Nucleotides | Amino acids | Database |
|---|---|---|---|---|
| rs62514891 | 1 | A>G | Met1Val | OMIM/dbSNP |
| CM000541 | 2 | T>G | Met1Arg | HGMD |
| rs62514893 | 3 | G>A | Met1Ile | OMIM/dbSNP |
| CM010947 | 46 | T>C | Ser16Pro | HGMD |
| CM000542 | 59 | A>T | Gln20Leu | HGMD |
| HM972014 | 65 | C>A | Thr22Lys | HGMD |
| rs62642926 | 117 | C>G | Phe39Leu | OMIM/dbSNP |
| CM961063 | 119 | C>T | Ser40Leu | HGMD |
| rs74603784 | 136 | G>A | Gly46Ser | OMIM/dbSNP |
| CM993577 | 140 | C>A | Ala47Glu | HGMD |
| rs5030841 | 143 | T>C | Leu48Ser | OMIM/dbSNP |
| CM981427 | 158 | G>A | Arg53His | HGMD |
| CM024619 | 181 | A>G | Asn61Asp | HGMD |
| rs75193786 | 194 | T>C | Ile65Thr | OMIM/dbSNP |
| CM981429 | 208 | T>C | Ser70Pro | HGMD |
| CM961066 | 250 | G>T | Asp84Tyr | HGMD |
| CM981431 | 281 | T>G | Ile94Ser | HGMD |
| CM992944 | 299 | A>G | His100Arg | HGMD |
| CM045080 | 307 | G>A | Gly103Ser | HGMD |
| CM010951 | 329 | C>T | Ser110Leu | HGMD |
| rs76296470 | 331 | C>T | Arg111Ter | OMIM/dbSNP |
| CM971124 | 365 | C>A | Pro122Gln | HGMD |
| rs199475681 | 368 | G>T | Arg123Ile | dbSNP |
| CM010952 | 385 | G>T | Asp129Tyr | HGMD |
| CM981432 | 395 | C>T | Ala132Val | HGMD |
| CM961070 | 434 | A>T | Asp145Val | HGMD |
| rs80297647 | 442 | G>A | Gly148Ser | dbSNP,untested |
| CM056668 | 470 | G>T | Arg157Ile | HGMD |
| rs5030843 | 473 | G>A | Arg158Gln | OMIM/dbSNP |
| rs199475626 | 493 | G>C | Ala165Pro | dbSNP,untested |
| CM992371 | 506 | G>A | Arg169His | HGMD |
| CM011946 | 508 | C>G | His170Asp | HGMD |
| rs192592111 | 516 | G>T | Gln172His | dbSNP,untested |
| CM981435 | 561 | G>C | Trp187Cys | HGMD |
| CM950887 | 581 | T>C | Leu194Pro | HGMD |
| CM981438 | 608 | G>A | Cys203Tyr | HGMD |
| rs62514927 | 611 | A>G | Tyr204Cys | OMIM/dbSNP |
| CM010961 | 648 | C>G | Tyr216Term | HGMD |
| rs62514934 | 662 | A>G | Glu221Gly | OMIM/dbSNP |
| CM971131 | 673 | C>A | Pro225Thr | HGMD |
| rs62517178 | 715 | G>A | Gly239Ser | dbSNP,untested |
| CM034744 | 716 | G>A | Gly239Asp | HGMD |
| rs5030846 | 727 | C>T | Arg243Ter | OMIM/dbSNP |
| rs62508588 | 728 | G>A | Arg243Gln | OMIM/dbSNP |
| rs118203923 | 731 | C>T | Pro244Leu | OMIM/dbSNP |
| CM920550 | 731 | C>T | Pro244Leu | HGMD |
| rs5030847 | 754 | C>T | Arg252Trp | OMIM/dbSNP |
| CM920553 | 763 | T>G | Leu255Val | HGMD |
| rs62642930 | 764 | T>C | Leu255Ser | OMIM/dbSNP |
| rs118203921 | 776 | C>T | Ala259Val | OMIM/dbSNP |
| CM910286 | 776 | C>T | Ala259Val | HGMD |
| rs5030850 | 781 | C>T | Arg261Ter | OMIM/dbSNP |
| rs5030849 | 782 | G>A | Arg261Gln | OMIM/dbSNP |
| CM981442 | 794 | G>A | Cys265Tyr | HGMD |
| rs62508752 | 796 | A>C | Thr266Ala | dbSNP,untested |
| CM081725 | 813 | T>G | His271Gln | HGMD |
| rs62514952 | 814 | G>T | Gly272Ter | OMIM/dbSNP |
| rs62514953 | 818 | C>T | Ser273Phe | OMIM/dbSNP |
| CM034745 | 827 | T>G | Met276Arg | HGMD |
| rs78655458 | 829 | T>G | Tyr277Asp | OMIM/dbSNP |
| rs62508698 | 838 | G>A | Glu280Lys | OMIM/dbSNP |
| CM992948 | 841 | C>T | Pro281Ser | HGMD |
| rs5030851 | 842 | C>T | Pro281Leu | OMIM/dbSNP |
| rs62507327 | 864 | G>C | Leu288Phe | dbSNP,untested |
| CM055475 | 869 | A>G | His290Arg | HGMD |
| rs62642933 | 896 | T>G | Phe299Cys | OMIM/dbSNP |
| CM015134 | 922 | C>T | Leu308Phe | HGMD |
| rs62642936 | 932 | T>C | Leu311Pro | OMIM/dbSNP |
| CM024623 | 940 | C>T | Pro314Ser | HGMD |
| rs62514959 | 977 | G>A | Trp326Ter | OMIM/dbSNP |
| CM990999 | 981 | T>G | Phe327Leu | HGMD |
| CM961082 | 992 | T>G | Phe331Cys | HGMD |
| CM043317 | 1007 | A>G | Gln336Arg | HGMD |
| CM010981 | 1022 | A>C | Lys341Thr | HGMD |
| rs62508651 | 1027 | T>G | Tyr343Asp | dbSNP,untested |
| CM000550 | 1031 | G>T | Gly344Val | HGMD |
| rs62508646 | 1045 | T>C | Ser349Pro | OMIM/dbSNP |
| CM981453 | 1048 | T>A | Ser350Thr | HGMD |
| rs62516095 | 1068 | C>G | Tyr356Ter | OMIM/dbSNP |
| CM101146 | 1071 | C>A | Cys357Term | HGMD |
| rs5030854 | 1076 | C>G | Ser359Ter | OMIM/dbSNP |
| CM068054 | 1089 | G>T | Lys363Asn | HGMD |
| CM010984 | 1130 | A>G | Tyr377Cys | HGMD |
| CM950896 | 1157 | A>G | Tyr386Cys | HGMD |
| rs62516101 | 1162 | G>A | Val388Met | OMIM/dbSNP |
| rs5030856 | 1169 | A>G | Glu390Gly | OMIM/dbSNP |
| rs199475695 | 1175 | T>C | Phe392Ser | dbSNP,untested |
| CM043319 | 1184 | C>A | Ala395Asp | HGMD |
| CM030921 | 1204 | T>C | Phe402Leu | HGMD |
| rs62644473 | 1220 | C>T | Pro407Leu | OMIM/dbSNP |
| rs5030858 | 1222 | C>T | Arg408Trp | dbSNP,PKU |
| rs5030859 | 1223 | G>A | Arg408Gln | OMIM/dbSNP |
| rs62644467 | 1237 | C>T | Arg413Cys | dbSNP,untested |
| rs79931499 | 1238 | G>C | Arg413Pro | OMIM/dbSNP |
| CM101145 | 1242 | C>A | Tyr414Term | HGMD |
| CM090791 | 1247 | C>A | Pro416Gln | HGMD |
| CM920565 | 1252 | A>C | Thr418Pro | HGMD |
| rs199475696 | 1262 | T>C | Ile421Thr | dbSNP,untested |
| CM993961 | 1271 | T>C | Leu424Ser | HGMD |
| CM010986 | 1289 | T>C | Leu430Pro | HGMD |
| CM961086 | 1340 | C>A | Ala447Asp | HGMD |
