Difference between revisions of "Mapping SNPs GLA"
From Bioinformatikpedia
(Created page with "<sup>by Benjamin Drexler and Fabian Grandke</sup> =Introduction= =Databases= ==HGMD== ==dbSNP== =Mutation Map= = References = <referen…") |
(→HGMD) |
||
Line 5: | Line 5: | ||
=Databases= |
=Databases= |
||
==HGMD== |
==HGMD== |
||
+ | {| class="wikitable" border="1" style="text-align:center; border-spacing:0;" |
||
+ | !Position |
||
+ | !Amino Acids |
||
+ | !Codons |
||
+ | |- |
||
+ | |1||Met->Thr||ATG-ACG |
||
+ | |- |
||
+ | |1||Met->Arg||ATG-AGG |
||
+ | |- |
||
+ | |1||Met->Ile||ATGc-ATA |
||
+ | |- |
||
+ | |14||Leu->Pro||CTT-CCT |
||
+ | |- |
||
+ | |16||Leu->Pro||CTT-CCT |
||
+ | |- |
||
+ | |18||Phe->Ser||TTC-TCC |
||
+ | |- |
||
+ | |19||Leu->Pro||CTG-CCG |
||
+ | |- |
||
+ | |20||Ala->Pro||gGCC-CCC |
||
+ | |- |
||
+ | |31||Ala->Val||GCA-GTA |
||
+ | |- |
||
+ | |32||Leu->Pro||CTG-CCG |
||
+ | |- |
||
+ | |34||Asn->Ser||AAT-AGT |
||
+ | |- |
||
+ | |34||Asn->Lys||AATg-AAG |
||
+ | |- |
||
+ | |35||Gly->Arg||tGGA-AGA |
||
+ | |- |
||
+ | |40||Pro->Leu||CCT-CTT |
||
+ | |- |
||
+ | |40||Pro->Ser||gCCT-TCT |
||
+ | |- |
||
+ | |41||Thr->Ile||ACC-ATC |
||
+ | |- |
||
+ | |42||Met->Thr||ATG-ACG |
||
+ | |- |
||
+ | |42||Met->Leu||cATG-CTG |
||
+ | |- |
||
+ | |42||Met->Val||cATG-GTG |
||
+ | |- |
||
+ | |43||Gly->Asp||GGC-GAC |
||
+ | |- |
||
+ | |43||Gly->Val||GGC-GTC |
||
+ | |- |
||
+ | |43||Gly->Arg||gGGC-CGC |
||
+ | |- |
||
+ | |44||Trp->Ter||TGG-TAG |
||
+ | |- |
||
+ | |46||His->Arg||CAC-CGC |
||
+ | |- |
||
+ | |46||His->Tyr||gCAC-TAC |
||
+ | |- |
||
+ | |47||Trp->Gly||cTGG-GGG |
||
+ | |- |
||
+ | |47||Trp->Leu||TGG-TTG |
||
+ | |- |
||
+ | |48||Glu->Lys||gGAG-AAG |
||
+ | |- |
||
+ | |49||Arg->Pro||CGC-CCC |
||
+ | |- |
||
+ | |49||Arg->Leu||CGC-CTC |
||
+ | |- |
||
+ | |49||Arg->Ser||gCGC-AGC |
||
+ | |- |
||
+ | |49||Arg->Gly||gCGC-GGC |
||
+ | |- |
||
+ | |50||Phe->Cys||TTC-TGC |
||
+ | |- |
||
+ | |51||Met->Lys||ATG-AAG |
||
+ | |- |
||
+ | |51||Met->Ile||ATGt-ATA |
||
+ | |- |
||
+ | |52||Cys->Arg||gTGC-CGC |
||
+ | |- |
||
+ | |52||Cys->Ser||TGC-TCC |
||
+ | |- |
||
+ | |52||Cys->Ter||TGCa-TGA |
||
+ | |- |
||
+ | |54||Leu->Pro||CTT-CCT |
||
+ | |- |
||
+ | |56||Cys->Gly||cTGC-GGC |
||
+ | |- |
||
+ | |56||Cys->Tyr||TGC-TAC |
||
+ | |- |
||
+ | |56||Cys->Phe||TGC-TTC |
||
+ | |- |
||
+ | |56||Cys->Ter||TGCc-TGA |
||
+ | |- |
||
+ | |59||Glu->Lys||aGAG-AAG |
||
+ | |- |
||
+ | |63||Cys->Tyr||TGC-TAC |
||
+ | |- |
||
+ | |66||Glu->Gly||GAG-GGG |
||
+ | |- |
||
+ | |66||Glu->Lys||tGAG-AAG |
||
+ | |- |
||
+ | |66||Glu->Gln||tGAG-CAG |
||
+ | |- |
||
+ | |68||Leu->Phe||gCTC-TTC |
||
+ | |- |
||
+ | |72||Met->Arg||ATG-AGG |
||
+ | |- |
||
+ | |72||Met->Ile||ATGg-ATA |
||
+ | |- |
||
+ | |72||Met->Val||gATG-GTG |
||
+ | |- |
||
+ | |73||Ala->Val||GCA-GTA |
||
+ | |- |
||
+ | |76||Met->Thr||ATG-ACG |
||
+ | |- |
||
+ | |78||Ser->Ter||TCA-TGA |
||
+ | |- |
||
+ | |79||Glu->Ter||aGAA-TAA |
||
+ | |- |
||
+ | |81||Trp->Ter||TGG-TAG |
||
+ | |- |
||
+ | |81||Trp->Ser||TGG-TCG |
||
+ | |- |
||
+ | |85||Gly->Asp||GGT-GAT |
||
+ | |- |
||
+ | |86||Tyr->Cys||TAT-TGT |
||
+ | |- |
||
+ | |86||Tyr->Ter||TATg-TAG |
||
+ | |- |
||
+ | |88||Tyr->Asp||gTAC-GAC |
||
+ | |- |
||
+ | |89||Leu->Pro||CTC-CCC |
||
+ | |- |
||
+ | |89||Leu->Arg||CTC-CGC |
||
+ | |- |
||
+ | |91||Ile->Thr||ATT-ACT |
||
+ | |- |
||
+ | |92||Asp->Asn||tGAT-AAT |
||
+ | |- |
||
+ | |92||Asp->His||tGAT-CAT |
||
+ | |- |
||
+ | |92||Asp->Tyr||tGAT-TAT |
||
+ | |- |
||
+ | |93||Asp->Gly||GAC-GGC |
||
+ | |- |
||
+ | |93||Asp->Val||GAC-GTC |
||
+ | |- |
||
+ | |93||Asp->Asn||tGAC-AAC |
||
+ | |- |
||
+ | |94||Cys->Tyr||TGT-TAT |
||
+ | |- |
||
+ | |94||Cys->Ser||TGT-TCT |
||
+ | |- |
||
+ | |95||Trp->Ter||TGG-TAG |
||
+ | |- |
||
+ | |95||Trp->Ser||TGG-TCG |
||
+ | |- |
||
+ | |97||Ala->Val||GCT-GTT |
||
+ | |- |
||
+ | |97||Ala->Pro||gGCT-CCT |
||
+ | |- |
||
+ | |99||Gln->Ter||cCAA-TAA |
||
+ | |- |
||
+ | |100||Arg->Lys||AGA-AAA |
||
+ | |- |
||
+ | |100||Arg->Thr||AGA-ACA |
||
+ | |- |
||
+ | |102||Ser->Ter||TCA-TGA |
||
+ | |- |
||
+ | |103||Glu->Gln||aGAA-CAA |
||
+ | |- |
||
+ | |106||Leu->Arg||CTT-CGT |
||
+ | |- |
||
+ | |107||Gln->Ter||tCAG-TAG |
||
+ | |- |
||
+ | |112||Arg->His||CGC-CAC |
||
+ | |- |
||
+ | |112||Arg->Ser||gCGC-AGC |
||
+ | |- |
||
+ | |112||Arg->Cys||gCGC-TGC |
||
+ | |- |
||
+ | |113||Phe->Leu||cTTT-CTT |
||
+ | |- |
||
+ | |113||Phe->Ser||TTT-TCT |
||
+ | |- |
||
+ | |118||Arg->Cys||tCGC-TGC |
||
+ | |- |
||
+ | |119||Gln->Ter||cCAG-TAG |
||
+ | |- |
||
+ | |121||Ala->Pro||aGCT-CCT |
||
+ | |- |
||
+ | |125||His->Pro||CAC-CCC |
||
+ | |- |
||
+ | |126||Ser->Gly||cAGC-GGC |
||
+ | |- |
||
+ | |127||Lys->Ter||cAAA-TAA |
||
+ | |- |
||
+ | |128||Gly->Glu||GGA-GAA |
||
+ | |- |
||
+ | |129||Leu->Pro||CTG-CCG |
||
+ | |- |
||
+ | |131||Leu->Pro||CTA-CCA |
||
+ | |- |
||
+ | |132||Gly->Arg||aGGG-AGG |
||
+ | |- |
||
+ | |134||Tyr->Ser||TAT-TCT |
||
+ | |- |
||
+ | |134||Tyr->Ter||TATg-TAG |
||
+ | |- |
||
+ | |135||Ala->Val||GCA-GTA |
||
+ | |- |
||
+ | |136||Asp->His||aGAT-CAT |
||
+ | |- |
||
+ | |138||Gly->Glu||GGA-GAA |
||
+ | |- |
||
+ | |138||Gly->Arg||tGGA-AGA |
||
+ | |- |
||
+ | |141||Thr->Ile||ACC-ATC |
||
+ | |- |
||
+ | |142||Cys->Arg||cTGC-CGC |
||
+ | |- |
||
+ | |142||Cys->Tyr||TGC-TAC |
||
+ | |- |
||
+ | |142||Cys->Ter||TGCg-TGA |
||
+ | |- |
||
+ | |142||Cys->Trp||TGCg-TGG |
||
+ | |- |
||
+ | |143||Ala->Thr||cGCA-ACA |
||
+ | |- |
||
+ | |143||Ala->Pro||cGCA-CCA |
||
+ | |- |
||
+ | |144||Gly->Val||GGC-GTC |
||
+ | |- |
||
+ | |146||Pro->Ser||cCCT-TCT |
||
+ | |- |
||
+ | |147||Gly->Arg||tGGG-AGG |
||
+ | |- |
||
+ | |148||Ser->Asn||AGT-AAT |
||
+ | |- |
||
+ | |148||Ser->Arg||AGTt-AGG |
||
+ | |- |
||
+ | |151||Tyr->Ter||TACt-TAG |
||
+ | |- |
||
+ | |152||Tyr->Ter||TACg-TAA |
||
+ | |- |
||
+ | |155||Asp->His||tGAT-CAT |
||
+ | |- |
||
+ | |156||Ala->Val||GCC-GTC |
||
+ | |- |
||
+ | |156||Ala->Thr||tGCC-ACC |
||
+ | |- |
||
+ | |157||Gln->Ter||cCAG-TAG |
||
+ | |- |
||
+ | |162||Trp->Arg||cTGG-CGG |
||
+ | |- |
||
+ | |162||Trp->Ter||TGG-TAG |
||
+ | |- |
||
+ | |162||Trp->Cys||TGGg-TGC |
||
+ | |- |
||
+ | |163||Gly->Val||GGA-GTA |
||
+ | |- |
||
+ | |165||Asp->His||aGAT-CAT |
||
+ | |- |
||
+ | |165||Asp->Val||GAT-GTT |
||
+ | |- |
||
+ | |166||Leu->Val||tCTG-GTG |
||
+ | |- |
||
+ | |167||Leu->Pro||CTA-CCA |
||
+ | |- |
||
+ | |168||Lys->Arg||AAA-AGA |
||
+ | |- |
||
+ | |169||Phe->Ser||TTT-TCT |
||
+ | |- |
||
+ | |170||Asp->Val||GAT-GTT |
||
+ | |- |
||
+ | |170||Asp->His||tGAT-CAT |
||
+ | |- |
||
+ | |171||Gly->Asp||GGT-GAT |
||
+ | |- |
||
+ | |171||Gly->Arg||tGGT-CGT |
||
+ | |- |
||
+ | |172||Cys->Tyr||TGT-TAT |
||
+ | |- |
||
+ | |172||Cys->Phe||TGT-TTT |
||
+ | |- |
||
+ | |172||Cys->Trp||TGTt-TGG |
||
+ | |- |
||
+ | |172||Cys->Arg||tTGT-CGT |
||
+ | |- |
||
+ | |172||Cys->Gly||tTGT-GGT |
||
+ | |- |
||
+ | |173||Tyr->Ter||TACt-TAA |
||
+ | |- |
||
+ | |177||Leu->Ter||TTG-TAG |
||
+ | |- |
||
+ | |183||Gly->Asp||GGT-GAT |
||
+ | |- |
||
+ | |183||Gly->Ser||tGGT-AGT |
||
+ | |- |
||
+ | |187||Met->Thr||ATG-ACG |
||
+ | |- |
||
+ | |187||Met->Val||cATG-GTG |
||
+ | |- |
||
+ | |191||Leu->Gln||CTG-CAG |
||
+ | |- |
||
+ | |191||Leu->Pro||CTG-CCG |
||
+ | |- |
||
+ | |194||Thr->Ile||ACT-ATT |
||
+ | |- |
||
+ | |199||Val->Met||tGTG-ATG |
||
+ | |- |
||
+ | |201||Ser->Tyr||TCC-TAC |
||
+ | |- |
||
+ | |201||Ser->Phe||TCC-TTC |
||
+ | |- |
||
+ | |202||Cys->Tyr||TGT-TAT |
||
+ | |- |
||
+ | |202||Cys->Trp||TGTg-TGG |
||
+ | |- |
||
+ | |204||Trp->Ter||TGG-TAG |
||
+ | |- |
||
+ | |205||Pro->Arg||CCT-CGT |
||
+ | |- |
||
+ | |205||Pro->Leu||CCT-CTT |
||
+ | |- |
||
+ | |205||Pro->Thr||gCCT-ACT |
||
+ | |- |
||
+ | |207||Tyr->Ser||TAT-TCT |
||
+ | |- |
||
+ | |215||Asn->Ser||AAT-AGT |
||
+ | |- |
||
+ | |216||Tyr->Asp||tTAT-GAT |
||
+ | |- |
||
+ | |220||Arg->Ter||cCGA-TGA |
||
+ | |- |
||
+ | |221||Gln->Ter||aCAG-TAG |
||
+ | |- |
||
+ | |222||Tyr->Ter||TACt-TAA |
||
+ | |- |
||
+ | |223||Cys->Arg||cTGC-CGC |
||
+ | |- |
||
+ | |223||Cys->Gly||cTGC-GGC |
||
+ | |- |
||
+ | |223||Cys->Tyr||TGC-TAC |
||
+ | |- |
||
+ | |224||Asn->Ser||AAT-AGT |
||
+ | |- |
||
+ | |224||Asn->Asp||cAAT-GAT |
||
+ | |- |
||
+ | |225||His->Arg||CAC-CGC |
||
+ | |- |
||
+ | |226||Trp->Arg||cTGG-CGG |
||
+ | |- |
||
+ | |226||Trp->Ter||TGG-TAG |
||
+ | |- |
||
+ | |226||Trp->Cys||TGGc-TGT |
||
+ | |- |
||
+ | |227||Arg->Gln||CGA-CAA |
||
+ | |- |
||
+ | |227||Arg->Ter||gCGA-TGA |
||
+ | |- |
||
+ | |230||Ala->Thr||tGCT-ACT |
||
+ | |- |
||
+ | |231||Asp->Val||GAC-GTC |
||
+ | |- |
||
+ | |231||Asp->Asn||tGAC-AAC |
||
+ | |- |
||
+ | |234||Asp->Glu||GATt-GAG |
||
+ | |- |
||
+ | |234||Asp->Tyr||tGAT-TAT |
||
+ | |- |
||
+ | |235||Ser->Cys||TCC-TGC |
||
+ | |- |
||
+ | |235||Ser->Phe||TCC-TTC |
||
+ | |- |
||
+ | |236||Trp->Arg||cTGG-CGG |
||
+ | |- |
||
+ | |236||Trp->Ter||TGG-TAG |
||
+ | |- |
||
+ | |236||Trp->Leu||TGG-TTG |
||
+ | |- |
||
+ | |236||Trp->Cys||TGGa-TGC |
||
+ | |- |
||
+ | |239||Ile->Thr||ATA-ACA |
||
+ | |- |
||
+ | |242||Ile->Asn||ATC-AAC |
||
+ | |- |
||
+ | |243||Leu->Phe||TTGg-TTC |
||
+ | |- |
||
+ | |244||Asp->Asn||gGAC-AAC |
||
+ | |- |
||
+ | |244||Asp->His||gGAC-CAC |
||
+ | |- |
||
+ | |245||Trp->Ter||TGG-TAG |
||
+ | |- |
||
+ | |247||Ser->Pro||aTCT-CCT |
||
+ | |- |
||
+ | |247||Ser->Cys||TCT-TGT |
||
+ | |- |
||
+ | |250||Gln->Ter||cCAG-TAG |
||
+ | |- |
||
+ | |251||Glu->Ter||gGAG-TAG |
||
+ | |- |
||
+ | |257||Ala->Pro||tGCT-CCT |
||
+ | |- |
||
+ | |258||Gly->Val||GGA-GTA |
||
+ | |- |
||
+ | |258||Gly->Arg||tGGA-CGA |
||
+ | |- |
||
+ | |259||Pro->Arg||CCA-CGA |
||
+ | |- |
||
+ | |259||Pro->Leu||CCA-CTA |
||
+ | |- |
||
+ | |260||Gly->Ala||GGG-GCG |
||
+ | |- |
||
+ | |261||Gly->Asp||GGT-GAT |
||
+ | |- |
||
+ | |262||Trp->Ter||TGG-TAG |
||
+ | |- |
||
+ | |262||Trp->Cys||TGGa-TGC |
||
+ | |- |
||
+ | |263||Asn->Ser||AAT-AGT |
||
+ | |- |
||
+ | |264||Asp->Val||GAC-GTC |
||
+ | |- |
||
+ | |264||Asp->Tyr||tGAC-TAC |
||
+ | |- |
||
+ | |265||Pro->Arg||CCA-CGA |
||
+ | |- |
||
+ | |265||Pro->Leu||CCA-CTA |
||
+ | |- |
||
+ | |266||Asp->Asn||aGAT-AAT |
||
+ | |- |
||
+ | |266||Asp->His||aGAT-CAT |
||
+ | |- |
||
+ | |266||Asp->Val||GAT-GTT |
||
+ | |- |
||
+ | |266||Asp->Glu||GATa-GAA |
||
+ | |- |
||
+ | |267||Met->Arg||ATG-AGG |
||
+ | |- |
||
+ | |267||Met->Ile||ATGg-ATA |
||
+ | |- |
||
+ | |268||Leu->Ser||TTA-TCA |
||
+ | |- |
||
+ | |269||Val->Met||aGTG-ATG |
||
+ | |- |
||
+ | |269||Val->Ala||GTG-GCG |
||
+ | |- |
||
+ | |270||Ile->Thr||ATT-ACT |
||
+ | |- |
||
+ | |271||Gly->Val||GGC-GTC |
||
+ | |- |
||
+ | |271||Gly->Ser||tGGC-AGC |
||
+ | |- |
||
+ | |271||Gly->Cys||tGGC-TGC |
||
+ | |- |
||
+ | |272||Asn->Lys||AACt-AAA |
||
+ | |- |
||
+ | |276||Ser->Asn||AGC-AAC |
||
+ | |- |
||
+ | |276||Ser->Gly||cAGC-GGC |
||
+ | |- |
||
+ | |277||Trp->Ter||TGG-TAG |
||
+ | |- |
||
+ | |279||Gln->Arg||CAG-CGG |
||
+ | |- |
||
+ | |279||Gln->His||CAGc-CAC |
||
+ | |- |
||
+ | |279||Gln->Glu||tCAG-GAG |
||
+ | |- |
||
+ | |280||Gln->His||CAAg-CAT |
||
+ | |- |
||
+ | |280||Gln->Lys||gCAA-AAA |
||
+ | |- |
||
+ | |282||Thr->Ala||aACT-GCT |
||
+ | |- |
||
+ | |282||Thr->Asn||ACT-AAT |
||
+ | |- |
||
+ | |283||Gln->Pro||CAG-CCG |
||
+ | |- |
||
+ | |284||Met->Thr||ATG-ACG |
||
+ | |- |
||
+ | |285||Ala->Asp||GCC-GAC |
||
+ | |- |
||
+ | |285||Ala->Pro||gGCC-CCC |
||
+ | |- |
||
+ | |287||Trp->Gly||cTGG-GGG |
||
+ | |- |
||
+ | |287||Trp->Ter||TGGg-TGA |
||
+ | |- |
||
+ | |287||Trp->Cys||TGGg-TGT |
||
+ | |- |
||
+ | |288||Ala->Asp||GCT-GAT |
||
+ | |- |
||
+ | |288||Ala->Pro||gGCT-CCT |
||
+ | |- |
||
+ | |289||Ile->Ser||ATC-AGC |
||
+ | |- |
||
+ | |289||Ile->Phe||tATC-TTC |
||
+ | |- |
||
+ | |290||Met->Ile||ATGg-ATA |
||
+ | |- |
||
+ | |292||Ala->Thr||tGCT-ACT |
||
+ | |- |
||
+ | |293||Pro->Thr||tCCT-ACT |
||
+ | |- |
||
+ | |293||Pro->Ala||tCCT-GCT |
||
+ | |- |
||
+ | |293||Pro->Ser||tCCT-TCT |
||
+ | |- |
||
+ | |294||Leu->Ter||TTA-TGA |
||
+ | |- |
||
+ | |296||Met->Ile||ATGt-ATA |
||
+ | |- |
||
+ | |296||Met->Val||cATG-GTG |
||
+ | |- |
||
+ | |297||Ser->Cys||TCT-TGT |
||
+ | |- |
||
+ | |297||Ser->Phe||TCT-TTT |
||
+ | |- |
||
+ | |298||Asn->Ser||AAT-AGT |
||
+ | |- |
||
+ | |298||Asn->Lys||AATg-AAG |
||
+ | |- |
||
+ | |298||Asn->His||tAAT-CAT |
||
+ | |- |
||
+ | |300||Leu->Phe||cCTC-TTC |
||
+ | |- |
||
+ | |300||Leu->His||CTC-CAC |
||
+ | |- |
||
+ | |301||Arg->Gly||cCGA-GGA |
||
+ | |- |
||
+ | |301||Arg->Ter||cCGA-TGA |
||
+ | |- |
||
+ | |301||Arg->Gln||CGA-CAA |
||
+ | |- |
||
+ | |301||Arg->Pro||CGA-CCA |
||
+ | |- |
||
+ | |303||Ile->Asn||ATC-AAC |
||
+ | |- |
||
+ | |306||Gln->Ter||tCAA-TAA |
||
+ | |- |
||
+ | |308||Lys->Asn||AAAg-AAT |
||
+ | |- |
||
+ | |310||Leu->Phe||tCTC-TTC |
||
+ | |- |
||
+ | |312||Gln->Arg||CAG-CGG |
||
+ | |- |
||
+ | |312||Gln->His||CAGg-CAT |
||
+ | |- |
||
+ | |313||Asp->Tyr||gGAT-TAT |
||
+ | |- |
||
+ | |316||Val->Glu||GTA-GAA |
||
+ | |- |
||
+ | |317||Ile->Asn||ATT-AAT |
||
+ | |- |
||
+ | |317||Ile->Thr||ATT-ACT |
||
+ | |- |
||
+ | |320||Asn->Ile||AAT-ATT |
||
+ | |- |
||
+ | |320||Asn->Lys||AATc-AAG |
||
+ | |- |
||
+ | |320||Asn->Tyr||cAAT-TAT |
||
+ | |- |
||
+ | |321||Gln->Arg||CAG-CGG |
||
+ | |- |
||
+ | |321||Gln->Leu||CAG-CTG |
||
+ | |- |
||
+ | |321||Gln->Glu||tCAG-GAG |
||
+ | |- |
||
+ | |321||Gln->Ter||tCAG-TAG |
||
+ | |- |
||
+ | |325||Gly->Asp||GGC-GAC |
||
+ | |- |
||
+ | |327||Gln->Lys||gCAA-AAA |
||
+ | |- |
||
+ | |327||Gln->Glu||gCAA-GAA |
||
+ | |- |
||
+ | |328||Gly->Arg||aGGG-AGG |
||
+ | |- |
||
+ | |328||Gly->Ala||GGG-GCG |
||
+ | |- |
||
+ | |328||Gly->Val||GGG-GTG |
||
+ | |- |
||
+ | |330||Gln->Ter||cCAG-TAG |
||
+ | |- |
||
+ | |333||Gln->Ter||aCAG-TAG |
||
+ | |- |
||
+ | |338||Glu->Lys||tGAA-AAA |
||
+ | |- |
||
+ | |338||Glu->Ter||tGAA-TAA |
||
+ | |- |
||
+ | |340||Trp->Arg||gTGG-CGG |
||
+ | |- |
||
+ | |340||Trp->Ter||TGGg-TGA |
||
+ | |- |
||
+ | |341||Glu->Asp||GAAc-GAC |
||
+ | |- |
||
+ | |341||Glu->Lys||gGAA-AAA |
||
+ | |- |
||
+ | |342||Arg->Ter||aCGA-TGA |
||
+ | |- |
||
+ | |342||Arg->Gln||CGA-CAA |
||
+ | |- |
||
+ | |344||Leu->Pro||CTC-CCC |
||
+ | |- |
||
+ | |345||Ser->Pro||cTCA-CCA |
||
+ | |- |
||
+ | |348||Ala->Pro||aGCC-CCC |
||
+ | |- |
||
+ | |349||Trp->Ter||TGG-TAG |
||
+ | |- |
||
+ | |350||Ala->Pro||gGCT-CCT |
||
+ | |- |
||
+ | |352||Ala->Asp||GCT-GAT |
||
+ | |- |
||
+ | |355||Asn->Lys||AACc-AAA |
||
+ | |- |
||
+ | |356||Arg->Trp||cCGG-TGG |
||
+ | |- |
||
+ | |357||Gln->Ter||gCAG-TAG |
||
+ | |- |
||
+ | |358||Glu->Ala||GAG-GCG |
||
+ | |- |
||
+ | |358||Glu->Gly||GAG-GGG |
||
+ | |- |
||
+ | |358||Glu->Lys||gGAG-AAG |
||
+ | |- |
||
+ | |360||Gly->Ser||tGGT-AGT |
||
+ | |- |
||
+ | |360||Gly->Cys||tGGT-TGT |
||
+ | |- |
||
+ | |361||Gly->Arg||tGGA-AGA |
||
+ | |- |
||
+ | |362||Pro->Leu||CCT-CTT |
||
+ | |- |
||
+ | |363||Arg->His||CGC-CAC |
||
+ | |- |
||
+ | |363||Arg->Cys||tCGC-TGC |
||
+ | |- |
||
+ | |365||Tyr->Ter||TATa-TAA |
||
+ | |- |
||
+ | |373||Gly->Ser||gGGT-AGT |
||
+ | |- |
||
+ | |373||Gly->Asp||GGT-GAT |
||
+ | |- |
||
+ | |377||Ala->Asp||GCC-GAC |
||
+ | |- |
||
+ | |378||Cys->Arg||cTGT-CGT |
||
+ | |- |
||
+ | |378||Cys->Tyr||TGT-TAT |
||
+ | |- |
||
+ | |382||Cys->Tyr||TGC-TAC |
||
+ | |- |
||
+ | |382||Cys->Trp||TGCt-TGG |
||
+ | |- |
||
+ | |384||Ile->Asn||ATC-AAC |
||
+ | |- |
||
+ | |385||Thr->Pro||cACA-CCA |
||
+ | |- |
||
+ | |386||Gln->Ter||aCAG-TAG |
||
+ | |- |
||
+ | |386||Gln->Pro||CAG-CCG |
||
+ | |- |
||
+ | |398||Glu->Lys||tGAA-AAA |
||
+ | |- |
||
+ | |398||Glu->Ter||tGAA-TAA |
||
+ | |- |
||
+ | |399||Trp->Ter||TGG-TAG |
||
+ | |- |
||
+ | |401||Ser->Ter||TCA-TGA |
||
+ | |- |
||
+ | |403||Leu->Ser||TTA-TCA |
||
+ | |- |
||
+ | |407||Ile->Lys||ATA-AAA |
||
+ | |- |
||
+ | |409||Pro->Thr||tCCC-ACC |
||
+ | |- |
||
+ | |409||Pro->Ala||tCCC-GCC |
||
+ | |- |
||
+ | |409||Pro->Ser||tCCC-TCC |
||
+ | |- |
||
+ | |410||Thr->Lys||ACA-AAA |
||
+ | |- |
||
+ | |410||Thr->Pro||cACA-CCA |
||
+ | |- |
||
+ | |410||Thr->Ala||cACA-GCA |
||
+ | |- |
||
+ | |411||Gly->Asp||GGC-GAC |
||
+ | |- |
||
+ | |414||Leu->Ser||TTG-TCG |
||
+ | |- |
||
+ | |415||Leu->Pro||CTT-CCT |
||
+ | |- |
||
+ | |} |
||
==dbSNP== |
==dbSNP== |
Revision as of 22:01, 20 June 2011
by Benjamin Drexler and Fabian Grandke
Introduction
Databases
HGMD
Position | Amino Acids | Codons |
---|---|---|
1 | Met->Thr | ATG-ACG |
1 | Met->Arg | ATG-AGG |
1 | Met->Ile | ATGc-ATA |
14 | Leu->Pro | CTT-CCT |
16 | Leu->Pro | CTT-CCT |
18 | Phe->Ser | TTC-TCC |
19 | Leu->Pro | CTG-CCG |
20 | Ala->Pro | gGCC-CCC |
31 | Ala->Val | GCA-GTA |
32 | Leu->Pro | CTG-CCG |
34 | Asn->Ser | AAT-AGT |
34 | Asn->Lys | AATg-AAG |
35 | Gly->Arg | tGGA-AGA |
40 | Pro->Leu | CCT-CTT |
40 | Pro->Ser | gCCT-TCT |
41 | Thr->Ile | ACC-ATC |
42 | Met->Thr | ATG-ACG |
42 | Met->Leu | cATG-CTG |
42 | Met->Val | cATG-GTG |
43 | Gly->Asp | GGC-GAC |
43 | Gly->Val | GGC-GTC |
43 | Gly->Arg | gGGC-CGC |
44 | Trp->Ter | TGG-TAG |
46 | His->Arg | CAC-CGC |
46 | His->Tyr | gCAC-TAC |
47 | Trp->Gly | cTGG-GGG |
47 | Trp->Leu | TGG-TTG |
48 | Glu->Lys | gGAG-AAG |
49 | Arg->Pro | CGC-CCC |
49 | Arg->Leu | CGC-CTC |
49 | Arg->Ser | gCGC-AGC |
49 | Arg->Gly | gCGC-GGC |
50 | Phe->Cys | TTC-TGC |
51 | Met->Lys | ATG-AAG |
51 | Met->Ile | ATGt-ATA |
52 | Cys->Arg | gTGC-CGC |
52 | Cys->Ser | TGC-TCC |
52 | Cys->Ter | TGCa-TGA |
54 | Leu->Pro | CTT-CCT |
56 | Cys->Gly | cTGC-GGC |
56 | Cys->Tyr | TGC-TAC |
56 | Cys->Phe | TGC-TTC |
56 | Cys->Ter | TGCc-TGA |
59 | Glu->Lys | aGAG-AAG |
63 | Cys->Tyr | TGC-TAC |
66 | Glu->Gly | GAG-GGG |
66 | Glu->Lys | tGAG-AAG |
66 | Glu->Gln | tGAG-CAG |
68 | Leu->Phe | gCTC-TTC |
72 | Met->Arg | ATG-AGG |
72 | Met->Ile | ATGg-ATA |
72 | Met->Val | gATG-GTG |
73 | Ala->Val | GCA-GTA |
76 | Met->Thr | ATG-ACG |
78 | Ser->Ter | TCA-TGA |
79 | Glu->Ter | aGAA-TAA |
81 | Trp->Ter | TGG-TAG |
81 | Trp->Ser | TGG-TCG |
85 | Gly->Asp | GGT-GAT |
86 | Tyr->Cys | TAT-TGT |
86 | Tyr->Ter | TATg-TAG |
88 | Tyr->Asp | gTAC-GAC |
89 | Leu->Pro | CTC-CCC |
89 | Leu->Arg | CTC-CGC |
91 | Ile->Thr | ATT-ACT |
92 | Asp->Asn | tGAT-AAT |
92 | Asp->His | tGAT-CAT |
92 | Asp->Tyr | tGAT-TAT |
93 | Asp->Gly | GAC-GGC |
93 | Asp->Val | GAC-GTC |
93 | Asp->Asn | tGAC-AAC |
94 | Cys->Tyr | TGT-TAT |
94 | Cys->Ser | TGT-TCT |
95 | Trp->Ter | TGG-TAG |
95 | Trp->Ser | TGG-TCG |
97 | Ala->Val | GCT-GTT |
97 | Ala->Pro | gGCT-CCT |
99 | Gln->Ter | cCAA-TAA |
100 | Arg->Lys | AGA-AAA |
100 | Arg->Thr | AGA-ACA |
102 | Ser->Ter | TCA-TGA |
103 | Glu->Gln | aGAA-CAA |
106 | Leu->Arg | CTT-CGT |
107 | Gln->Ter | tCAG-TAG |
112 | Arg->His | CGC-CAC |
112 | Arg->Ser | gCGC-AGC |
112 | Arg->Cys | gCGC-TGC |
113 | Phe->Leu | cTTT-CTT |
113 | Phe->Ser | TTT-TCT |
118 | Arg->Cys | tCGC-TGC |
119 | Gln->Ter | cCAG-TAG |
121 | Ala->Pro | aGCT-CCT |
125 | His->Pro | CAC-CCC |
126 | Ser->Gly | cAGC-GGC |
127 | Lys->Ter | cAAA-TAA |
128 | Gly->Glu | GGA-GAA |
129 | Leu->Pro | CTG-CCG |
131 | Leu->Pro | CTA-CCA |
132 | Gly->Arg | aGGG-AGG |
134 | Tyr->Ser | TAT-TCT |
134 | Tyr->Ter | TATg-TAG |
135 | Ala->Val | GCA-GTA |
136 | Asp->His | aGAT-CAT |
138 | Gly->Glu | GGA-GAA |
138 | Gly->Arg | tGGA-AGA |
141 | Thr->Ile | ACC-ATC |
142 | Cys->Arg | cTGC-CGC |
142 | Cys->Tyr | TGC-TAC |
142 | Cys->Ter | TGCg-TGA |
142 | Cys->Trp | TGCg-TGG |
143 | Ala->Thr | cGCA-ACA |
143 | Ala->Pro | cGCA-CCA |
144 | Gly->Val | GGC-GTC |
146 | Pro->Ser | cCCT-TCT |
147 | Gly->Arg | tGGG-AGG |
148 | Ser->Asn | AGT-AAT |
148 | Ser->Arg | AGTt-AGG |
151 | Tyr->Ter | TACt-TAG |
152 | Tyr->Ter | TACg-TAA |
155 | Asp->His | tGAT-CAT |
156 | Ala->Val | GCC-GTC |
156 | Ala->Thr | tGCC-ACC |
157 | Gln->Ter | cCAG-TAG |
162 | Trp->Arg | cTGG-CGG |
162 | Trp->Ter | TGG-TAG |
162 | Trp->Cys | TGGg-TGC |
163 | Gly->Val | GGA-GTA |
165 | Asp->His | aGAT-CAT |
165 | Asp->Val | GAT-GTT |
166 | Leu->Val | tCTG-GTG |
167 | Leu->Pro | CTA-CCA |
168 | Lys->Arg | AAA-AGA |
169 | Phe->Ser | TTT-TCT |
170 | Asp->Val | GAT-GTT |
170 | Asp->His | tGAT-CAT |
171 | Gly->Asp | GGT-GAT |
171 | Gly->Arg | tGGT-CGT |
172 | Cys->Tyr | TGT-TAT |
172 | Cys->Phe | TGT-TTT |
172 | Cys->Trp | TGTt-TGG |
172 | Cys->Arg | tTGT-CGT |
172 | Cys->Gly | tTGT-GGT |
173 | Tyr->Ter | TACt-TAA |
177 | Leu->Ter | TTG-TAG |
183 | Gly->Asp | GGT-GAT |
183 | Gly->Ser | tGGT-AGT |
187 | Met->Thr | ATG-ACG |
187 | Met->Val | cATG-GTG |
191 | Leu->Gln | CTG-CAG |
191 | Leu->Pro | CTG-CCG |
194 | Thr->Ile | ACT-ATT |
199 | Val->Met | tGTG-ATG |
201 | Ser->Tyr | TCC-TAC |
201 | Ser->Phe | TCC-TTC |
202 | Cys->Tyr | TGT-TAT |
202 | Cys->Trp | TGTg-TGG |
204 | Trp->Ter | TGG-TAG |
205 | Pro->Arg | CCT-CGT |
205 | Pro->Leu | CCT-CTT |
205 | Pro->Thr | gCCT-ACT |
207 | Tyr->Ser | TAT-TCT |
215 | Asn->Ser | AAT-AGT |
216 | Tyr->Asp | tTAT-GAT |
220 | Arg->Ter | cCGA-TGA |
221 | Gln->Ter | aCAG-TAG |
222 | Tyr->Ter | TACt-TAA |
223 | Cys->Arg | cTGC-CGC |
223 | Cys->Gly | cTGC-GGC |
223 | Cys->Tyr | TGC-TAC |
224 | Asn->Ser | AAT-AGT |
224 | Asn->Asp | cAAT-GAT |
225 | His->Arg | CAC-CGC |
226 | Trp->Arg | cTGG-CGG |
226 | Trp->Ter | TGG-TAG |
226 | Trp->Cys | TGGc-TGT |
227 | Arg->Gln | CGA-CAA |
227 | Arg->Ter | gCGA-TGA |
230 | Ala->Thr | tGCT-ACT |
231 | Asp->Val | GAC-GTC |
231 | Asp->Asn | tGAC-AAC |
234 | Asp->Glu | GATt-GAG |
234 | Asp->Tyr | tGAT-TAT |
235 | Ser->Cys | TCC-TGC |
235 | Ser->Phe | TCC-TTC |
236 | Trp->Arg | cTGG-CGG |
236 | Trp->Ter | TGG-TAG |
236 | Trp->Leu | TGG-TTG |
236 | Trp->Cys | TGGa-TGC |
239 | Ile->Thr | ATA-ACA |
242 | Ile->Asn | ATC-AAC |
243 | Leu->Phe | TTGg-TTC |
244 | Asp->Asn | gGAC-AAC |
244 | Asp->His | gGAC-CAC |
245 | Trp->Ter | TGG-TAG |
247 | Ser->Pro | aTCT-CCT |
247 | Ser->Cys | TCT-TGT |
250 | Gln->Ter | cCAG-TAG |
251 | Glu->Ter | gGAG-TAG |
257 | Ala->Pro | tGCT-CCT |
258 | Gly->Val | GGA-GTA |
258 | Gly->Arg | tGGA-CGA |
259 | Pro->Arg | CCA-CGA |
259 | Pro->Leu | CCA-CTA |
260 | Gly->Ala | GGG-GCG |
261 | Gly->Asp | GGT-GAT |
262 | Trp->Ter | TGG-TAG |
262 | Trp->Cys | TGGa-TGC |
263 | Asn->Ser | AAT-AGT |
264 | Asp->Val | GAC-GTC |
264 | Asp->Tyr | tGAC-TAC |
265 | Pro->Arg | CCA-CGA |
265 | Pro->Leu | CCA-CTA |
266 | Asp->Asn | aGAT-AAT |
266 | Asp->His | aGAT-CAT |
266 | Asp->Val | GAT-GTT |
266 | Asp->Glu | GATa-GAA |
267 | Met->Arg | ATG-AGG |
267 | Met->Ile | ATGg-ATA |
268 | Leu->Ser | TTA-TCA |
269 | Val->Met | aGTG-ATG |
269 | Val->Ala | GTG-GCG |
270 | Ile->Thr | ATT-ACT |
271 | Gly->Val | GGC-GTC |
271 | Gly->Ser | tGGC-AGC |
271 | Gly->Cys | tGGC-TGC |
272 | Asn->Lys | AACt-AAA |
276 | Ser->Asn | AGC-AAC |
276 | Ser->Gly | cAGC-GGC |
277 | Trp->Ter | TGG-TAG |
279 | Gln->Arg | CAG-CGG |
279 | Gln->His | CAGc-CAC |
279 | Gln->Glu | tCAG-GAG |
280 | Gln->His | CAAg-CAT |
280 | Gln->Lys | gCAA-AAA |
282 | Thr->Ala | aACT-GCT |
282 | Thr->Asn | ACT-AAT |
283 | Gln->Pro | CAG-CCG |
284 | Met->Thr | ATG-ACG |
285 | Ala->Asp | GCC-GAC |
285 | Ala->Pro | gGCC-CCC |
287 | Trp->Gly | cTGG-GGG |
287 | Trp->Ter | TGGg-TGA |
287 | Trp->Cys | TGGg-TGT |
288 | Ala->Asp | GCT-GAT |
288 | Ala->Pro | gGCT-CCT |
289 | Ile->Ser | ATC-AGC |
289 | Ile->Phe | tATC-TTC |
290 | Met->Ile | ATGg-ATA |
292 | Ala->Thr | tGCT-ACT |
293 | Pro->Thr | tCCT-ACT |
293 | Pro->Ala | tCCT-GCT |
293 | Pro->Ser | tCCT-TCT |
294 | Leu->Ter | TTA-TGA |
296 | Met->Ile | ATGt-ATA |
296 | Met->Val | cATG-GTG |
297 | Ser->Cys | TCT-TGT |
297 | Ser->Phe | TCT-TTT |
298 | Asn->Ser | AAT-AGT |
298 | Asn->Lys | AATg-AAG |
298 | Asn->His | tAAT-CAT |
300 | Leu->Phe | cCTC-TTC |
300 | Leu->His | CTC-CAC |
301 | Arg->Gly | cCGA-GGA |
301 | Arg->Ter | cCGA-TGA |
301 | Arg->Gln | CGA-CAA |
301 | Arg->Pro | CGA-CCA |
303 | Ile->Asn | ATC-AAC |
306 | Gln->Ter | tCAA-TAA |
308 | Lys->Asn | AAAg-AAT |
310 | Leu->Phe | tCTC-TTC |
312 | Gln->Arg | CAG-CGG |
312 | Gln->His | CAGg-CAT |
313 | Asp->Tyr | gGAT-TAT |
316 | Val->Glu | GTA-GAA |
317 | Ile->Asn | ATT-AAT |
317 | Ile->Thr | ATT-ACT |
320 | Asn->Ile | AAT-ATT |
320 | Asn->Lys | AATc-AAG |
320 | Asn->Tyr | cAAT-TAT |
321 | Gln->Arg | CAG-CGG |
321 | Gln->Leu | CAG-CTG |
321 | Gln->Glu | tCAG-GAG |
321 | Gln->Ter | tCAG-TAG |
325 | Gly->Asp | GGC-GAC |
327 | Gln->Lys | gCAA-AAA |
327 | Gln->Glu | gCAA-GAA |
328 | Gly->Arg | aGGG-AGG |
328 | Gly->Ala | GGG-GCG |
328 | Gly->Val | GGG-GTG |
330 | Gln->Ter | cCAG-TAG |
333 | Gln->Ter | aCAG-TAG |
338 | Glu->Lys | tGAA-AAA |
338 | Glu->Ter | tGAA-TAA |
340 | Trp->Arg | gTGG-CGG |
340 | Trp->Ter | TGGg-TGA |
341 | Glu->Asp | GAAc-GAC |
341 | Glu->Lys | gGAA-AAA |
342 | Arg->Ter | aCGA-TGA |
342 | Arg->Gln | CGA-CAA |
344 | Leu->Pro | CTC-CCC |
345 | Ser->Pro | cTCA-CCA |
348 | Ala->Pro | aGCC-CCC |
349 | Trp->Ter | TGG-TAG |
350 | Ala->Pro | gGCT-CCT |
352 | Ala->Asp | GCT-GAT |
355 | Asn->Lys | AACc-AAA |
356 | Arg->Trp | cCGG-TGG |
357 | Gln->Ter | gCAG-TAG |
358 | Glu->Ala | GAG-GCG |
358 | Glu->Gly | GAG-GGG |
358 | Glu->Lys | gGAG-AAG |
360 | Gly->Ser | tGGT-AGT |
360 | Gly->Cys | tGGT-TGT |
361 | Gly->Arg | tGGA-AGA |
362 | Pro->Leu | CCT-CTT |
363 | Arg->His | CGC-CAC |
363 | Arg->Cys | tCGC-TGC |
365 | Tyr->Ter | TATa-TAA |
373 | Gly->Ser | gGGT-AGT |
373 | Gly->Asp | GGT-GAT |
377 | Ala->Asp | GCC-GAC |
378 | Cys->Arg | cTGT-CGT |
378 | Cys->Tyr | TGT-TAT |
382 | Cys->Tyr | TGC-TAC |
382 | Cys->Trp | TGCt-TGG |
384 | Ile->Asn | ATC-AAC |
385 | Thr->Pro | cACA-CCA |
386 | Gln->Ter | aCAG-TAG |
386 | Gln->Pro | CAG-CCG |
398 | Glu->Lys | tGAA-AAA |
398 | Glu->Ter | tGAA-TAA |
399 | Trp->Ter | TGG-TAG |
401 | Ser->Ter | TCA-TGA |
403 | Leu->Ser | TTA-TCA |
407 | Ile->Lys | ATA-AAA |
409 | Pro->Thr | tCCC-ACC |
409 | Pro->Ala | tCCC-GCC |
409 | Pro->Ser | tCCC-TCC |
410 | Thr->Lys | ACA-AAA |
410 | Thr->Pro | cACA-CCA |
410 | Thr->Ala | cACA-GCA |
411 | Gly->Asp | GGC-GAC |
414 | Leu->Ser | TTG-TCG |
415 | Leu->Pro | CTT-CCT |
dbSNP
Mutation Map
References
<references />