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Links: - Wat is DNA - Overzicht van de mutaties/exons - Codes mutatie basenparen - Internationaal klinisch laboratoria; waar wordt FMF onderzocht? - GeneTest (genetica informatie van Universiteit Washington) Inleiding Gene Therapy (download .pdf formaat) / (bekijk het online) |
GAAGCCAGAC AGCTGGCTCG AGCCTCTCCT GCTCAGCACC ATGGCTAAGA 10 -12C>G
CCCCTAGTGA CCATCTGCTG TCCACCCTGG AGGAGCTGGT GCCCTATGAC 60 L9L
TTCGAGAAGT TCAAGTTCAA GCTGCAGAAC ACCAGTGTGC AGAAGGAGCA 110
CTCCAGGATC CCCCGGAGCC AGATCCAGAG AGCCAGGCCG GTGAAGATGG 160 R42W
CCACTCTGCT GGTCACCTAC TATGGGGAAG AGTACGCCGT GCAGCTCACC 210 Y65Y
CTGCAGGTCC TGCGGGCCAT CAACCAGCGC CTGCTGGCCG AGGAGCTCCA 260
CAGGGCAGCC ATTCAGGAAT ATTCCACACA AGAAAACGGC ACAGATGATT 310 A89T N99N D102D D103D
CCGCAGCGTC CAGCTCCCTG GGGGAGAACA AGCCCAGGAG CCTGAAGACT 360 S108R L110P L110L G111G 334_335insG
CCAGACCACC CCGAGGGGAA CGAGGGGAAC GGCCCTCGGC CGTACGGGGG 410 P124P E125E 390_391insGAGGGGAAC
CGGAGCTGCC AGCCTGCGGT GCAGCCAGCC CGAGGCCGGG AGGGGGCTGT 460 G138G S141I R143P E148Q E148V R151S
CGAGGAAGCC CCTGAGCAAA CGCAGAGAGA AGGCCTCGGA GGGCCTGGAC 510 E163A A165A E167D
GCGCAGGGCA AGCCTCGGAC CCGGAGCCCG GCCCTGCCGG GCGGGAGAAG 560 P175H T177I S179I P180R P180P
CCCCGGCCCC TGCAGGGCGC TAGAGGGGGG CCAGGCCGAG GTCCGGCTGC 610 G196W R202Q
GCAGAAACGC CAGCTCCGCG GGGAGGCTGC AGGGGCTGGC GGGGGGCGCC 660 606_621dup G219G
CCGGGGCAGA AGGAGTGCAG GCCCTTCGAA GTGTACCTGC CCTCGGGAAA 710 P221P E225D E230K G236V
GATGCGACCT AGAAGCCTTG AGGTCACCAT TTCTACAGGG GAGAAGGCGC 760 S242S S242R E251K 761_764dup
CCGCAAATCC AGAAATTCTC CTGACTCTAG AGGAAAAGAC AGCTGCGAAT 810 I259V T267I A268V
CTGGACTCGG CAACAGAACC CCGGGCAAGG CCCACTCCGG ATGGAGGGGC 860 R278P P283R P283L
ATCTGCGGAC CTGAAGGAAG GCCCTGGAAA TCCAGAACAT TCGGTCACCG 910 A289V E299G G304R
GAAGGCCACC AGACACGGCT GCGAGTCCCC GCTGCCACGC CCAGGAAGGA 960 T309M R314R E319K
GACCCAGTTG ACGGTACCTG TGTGCGTGAT TCCTGCAGCT TCCCCGAGGC 1010 R329H
AGTTTCTGGG CACCCCCAGG CCTCAGGCAG CCGCTCACCT GGCTGCCCCC 1060 S339F C352C R354W
GGTGCCAGGA CTCCCATGAA AGGAAGAGCC CGGGAAGCCT AAGCCCCCAG 1110 S363S P369S
CCCCTGCCAC AGTGTAAGCG CCACCTGAAG CAGGTCCAGC TGCTCTTCTG 1160 Q383K
TGAGGATCAC GATGAGCCCA TCTGCCTCAT CTGCAGTCTG AGTCAGGAGC 1210 P393P
ACCAAGGCCA CCGGGTGCGC CCCATTGAGG AGGTCGCCCT GGAACACAAG 1260 R408Q
AAGAAAATTC AGAAGCAGCT GGAGCATCTG AAGAAGCTGA GAAAATCAGG 1310 I423V
GGAGGAGCAG CGATCCTATG GGGAGGAGAA GGCAGTGAGC TTTCTGAAAC 1360 Q440E
AAACTGAAGC GCTGAAGCAG CGGGTGCAGA GGAAGCTGGA GCAGGTGTAC 1410 A457V V469L
TACTTCCTGG AGCAGCAAGA GCATTTCTTT GTGGCCTCAC TGGAGGACGT 1460 E474K E474E Q476Q H478Y F479L V487M
GGGCCAGATG GTTGGGCAGA TCAGGAAGGC ATATGACACC CGCGTATCCC 1510 Q489Q R501G R501R
AGGACATCGC CCTGCTCGAT GCGCTGATTG GGGAACTGGA GGCCAAGGAG 1560 I506V I506I D510D G514E
TGCCAGTCAG AATGGGAACT TCTGCAGGAC ATTGGAGACA TCTTGCACAG 1610
GGCTAAGACA GTGCCTGTCC CTGAAAAGTG GACCACTCCT CAAGAGATAA 1660
AACAAAAGAT CCAACTCCTC CACCAGAAGT CAGAGTTTGT GGAGAAGAGC 1710 L559F
ACAAAGTACT TCTCAGAAAC CCTGCGTTCA GAAATGGAAA TGTTCAATGT 1760 T577S M582L
TCCGGAGCTG ATTGGCGCTC AGGCACATGC TGTTAATGTG ATTCTGGATG 1810 P588P I591T G592G A595V
CAGAAACCGC TTACCCCAAC CTCATCTTCT CTGATGATCT GAAGAGTGTT 1860 P609P
AGACTTGGAA ACAAGTGGGA GAGGCTGCCT GATGGCCCGC AAAGATTTGA 1910 G632S
CAGCTGTATC ATTGTTCTGG GCTCTCCGAG TTTCCTCTCT GGCCGCCGTT 1960 I640M I641F P646L P646P L649P R652R R653H
ACTGGGAGGT GGAGGTTGGA GACAAGACAG CATGGATCCT GGGAGCCTGC 2010 E656A D661N
AAGACATCCA TAAGCAGGAA AGGGAACATG ACTCTGTCGC CAGAGAATGG 2060 S675N G678E M680L M680IGC M680IGA T681I S683S
CTACTGGGTG GTGATAATGA TGAAGGAAAA TGAGTACCAG GCGTCCAGCG 2110 Y688C Y688X I692DEL M694V M694L M694DEL M694I K695R K695M A701A S702C S703S V704I
TTCCCCCGAC CCGCCTGCTA ATAAAGGAGC CTCCCAAGCG TGTGGGCATC 2160 P705S P706P L709R R717S I720M
TTCGTGGACT ACAGAGTTGG AAGCATCTCC TTTTACAATG TGACAGCCAG 2210 F721F V722V D723D V726A
ATCCCACATC TATACATTCG CCAGCTGCTC TTTCTCTGGG CCCCTTCAAC 2260 F743L F743F A744S S749C Q753Q
CTATCTTCAG CCCTGGGACA CGTGATGGAG GGAAGAACAC AGCTCCTCTG 2310 I755V P758S R761H
ACTATCTGTC CAGTGGGTGG TCAGGGGCCT GACTGAATGC CCAACACTGC *14 I772V G779G P780T *9C>T *12T>C
ATCTCTCTTC CTGCTTCTGG CCTTGTATCT TGCATTCACA CTCAATAGTC *64
ACGGAATGCC GACTAGGTGC TAGCTGCTAT GGGAAATGCA AAAATAACAA *114
AATAGTTACT GTGCCCACGG AGCCTACCCG ATTATAGCAG AGGTAAGTTA *164
GGAACGAACA TGTTAGTCAA TCCGGGTGAA GACATGTACT GATGACACAC *214
CATGGATTTC AGAGGAGGAA GTACGGAGTC GTTGCATAAT CCGCCCCTGG *264
TGGGTGGCAC TCTCAGGTGC TCCTGAACAG AAGATTTGGC CCTCATTTTC *314
CCTCAGAACC CCACGGCAAG GATATATGTC CCCTTGTTCT CTCTGCTTCT *364
GTCTTGAGGA TATGGGAAGC CTAGAGAAAC GCAAGCAGAC TGGATTGGGA *414
TAGAAGTATT TGTGTACCTG GATTAATGAA CTATGATTTT TTTTTTTTTT *464
TTTTGAGACC AAATCTTGCT CTGTGGCCCA GGCTGGAGTG CAGTGGCACG *514
ATCTCAGCTC ACTGCAACCT CCACCTCCCA GGTTCAAGCG ATTCTCCTGC *564
CTCAGCCTCC TGAGCAGCTG GGATTACAGG TGCGTGCCAC CACACCAGGC *614
TGGTTTTCTT GTATTTTTAG TAGAGACGGG GGTTTCACCA TGTTAGCCAG *664
GCTGGTCTCG AACTCCTGAC CTCAGGTGAT CCACCCGCCT CAGCCTCCCA *714
AAGTGCTGGG ATTACAGGCA TGAGCCACTG TGCCCGGCCT ATGATTCTTT *764
TTTTTTTTTT TTTTTGAGAC AAAGTTTTGC TCTTGTCACC CAGGCTGGAG *814
TGCAGTGGTG CAATCTTGGC TCGCAACCTC CGCCTCCCAG GTTCAAGAGA *864
TTCTCCTGCC TCAGCCTCCG AAGTAGCTGG GATTACAGGC GCCCGCCACC *914
ATGCCCGGCT AATTTTTTGC ATTTTTAGTA GACATGAGGT TTCATCATGT *964
TGGCCAGGCC GGTCTCAAAC TCCTGACCTC AGGTGATGCA CCCACCTCAG *1014
CCTCCCAAAG TGCAGGGATT ACAGGCATGA GCCACCATGC CGGGCCATGA *1064
TTCTTAAGAG AATTGACTGG GCCTCATGAA TAAAAAAATT AGAAAATCT
Infevers:
an online database for autoinflammatory mutations. Copyright.
Available at
http://fmf.igh.cnrs.fr/ISSAID/infevers/