Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 17:12:57 * variant associated with disease as a risk factor rather than a causal factor. Note: Sequences are numbered according to latest reference sequence information. Discrepancies may exist with some publications. Chromosome 17q12-q21 Chromosome Strand - Chromosome GI 51511734 Chromosome RefSeq ID NC_000017.9 37022605 : AGTTAGGAGG GCCCCGCCTT CCCCAGCTGC ATATAAAGGT CTCTGGGGTT : 37022556 -139 : AGTTAGGAGG GCCCCGCCTT CCCCAGCTGC ATATAAAGGT CTCTGGGGTT : -90 37022555 : GGAGGCAGCC ACAGCACGCT CTCAGCCTTC CTGAGCACCT TTCCTTCTTT : 37022506 -89 : GGAGGCAGCC ACAGCACGCT CTCAGCCTTC CTGAGCACCT TTCCTTCTTT : -40 37022505 : CAGCCAACTG CTCACTCGCT CACCTCCCTC CTTGGCACCA TGACCACCTG : 37022456 -39 : CAGCCAACTG CTCACTCGCT CACCTCCCTC CTTGGCACCA TGACCACCTG : 11 1 : M T T C : 4 37022455 : CAGCCGCCAG TTCACCTCCT CCAGCTCCAT GAAGGGCTCC TGCGGCATCG : 37022406 12 : CAGCCGCCAG TTCACCTCCT CCAGCTCCAT GAAGGGCTCC TGCGGCATCG : 61 5 : S R Q F T S S S S M K G S C G I : 20 37022405 : GAGGCGGCAT CGGGGGCGGC TCCAGCCGCA TCTCCTCCGT CCTGGCCGGA : 37022356 62 : GAGGCGGCAT CGGGGGCGGC TCCAGCCGCA TCTCCTCCGT CCTGGCCGGA : 111 21 : G G G I G G G S S R I S S V L A G : 37 37022355 : GGGTCCTGCC GTGCCCCCAG CACCTACGGG GGCGGCCTGT CTGTCTCCTC : 37022306 112 : GGGTCCTGCC GTGCCCCCAG CACCTACGGG GGCGGCCTGT CTGTCTCCTC : 161 38 : G S C R A P S T Y G G G L S V S S : 54 37022305 : TCGCTTCTCC TCTGGGGGAG CCTGCGGGCT GGGGGGCGGC TATGGCGGTG : 37022256 162 : TCGCTTCTCC TCTGGGGGAG CCTGCGGGCT GGGGGGCGGC TATGGCGGTG : 211 55 : R F S S G G A C G L G G G Y G G : 70 37022255 : GCTTCAGCAG CAGCAGCAGC TTTGGTAGTG GCTTCGGGGG AGGATATGGT : 37022206 212 : GCTTCAGCAG CAGCAGCAGC TTTGGTAGTG GCTTCGGGGG AGGATATGGT : 261 71 : G F S S S S S F G S G F G G G Y G : 87 VARIANTS : ddd : VARIANTS 37022205 : GGTGGCCTTG GTGCTGGCTT CGGTGGTGGC TTGGGTGCTG GCTTTGGTGG : 37022156 262 : GGTGGCCTTG GTGCTGGCTT CGGTGGTGGC TTGGGTGCTG GCTTTGGTGG : 311 88 : G G L G A G F G G G L G A G F G G : 104 VARIANTS : d : VARIANTS VARIANTS : ddddddddd : VARIANTS 37022155 : TGGTTTTGCT GGTGGTGATG GGCTTCTGGT GGGCAGTGAG AAGGTGACCA : 37022106 312 : TGGTTTTGCT GGTGGTGATG GGCTTCTGGT GGGCAGTGAG AAGGTGACCA : 361 105 : G F A G G D G L L V G S E K V T : 120 VARIANTS : ddddddddd : VARIANTS VARIANTS : A : VARIANTS VARIANTS : C : VARIANTS VARIANTS : C C G GG TC A ddd C : VARIANTS 37022105 : TGCAGAACCT CAATGACCGC CTGGCCTCCT ACCTGGACAA GGTGCGTGCT : 37022056 362 : TGCAGAACCT CAATGACCGC CTGGCCTCCT ACCTGGACAA GGTGCGTGCT : 411 121 : M Q N L N D R L A S Y L D K V R A : 137 VARIANTS : T P R S C Q d P : VARIANTS VARIANTS : P D P : VARIANTS VARIANTS : H : VARIANTS 37022055 : CTGGAGGAGG CCAACGCCGA CCTGGAAGTG AAGATCCGTG ACTGGTACCA : 37022006 412 : CTGGAGGAGG CCAACGCCGA CCTGGAAGTG AAGATCCGTG ACTGGTACCA : 461 138 : L E E A N A D L E V K I R D W Y Q : 154 37022005 : GAGGCAGCGG CCCAGTGAGA TCAAAGACTA CAGTCCCTAC TTCAAGACCA : 37021956 462 : GAGGCAGCGG CCCAGTGAGA TCAAAGACTA CAGTCCCTAC TTCAAGACCA : 511 155 : R Q R P S E I K D Y S P Y F K T : 170 37021955 : TCGAGGACCT GAGGAACAAG GTGGGTGACT TTGGTGTATG GAGCACTGAG : 37021906 512 : TCGAGGACCT GAGGAACAAG : 531 171 : I E D L R N K : 177 37021905 : AGAGGCTGGG GCTACAGTGG CCCTTGGGAT ACCTCTTTTT AGCAATTACA : 37021856 37021855 : CTTTACAAAC AGGGAGACTG GGCACCTTTG GGGAGTGGCC AGGATCACCC : 37021806 37021805 : AGGGAAGTGG TAGCAGAGGG TCCCTTTTCA GTATCTCTGT GCCCGGACTG : 37021756 37021755 : GGGCTGTTAC CCTAAATCTC TTATTTCCTT CAAGGGTTCA GCTGCAAGTT : 37021706 37021705 : CAGCTTCCCT GCCTTGGGCC CAGGAAGGGG GTGATCGGGA TGGAGTGCAT : 37021656 37021655 : CCCTACGTAG CCTGAGCTGG TGGAGAAGGC ATGCCAGCCC TGCCAGCCAG : 37021606 37021605 : AAGACTTCCA GATTTGGGGC GGTTCCTTTT GCCCCTTTCT GCCTTTCATG : 37021556 37021555 : CTCAAGTAGT AAGGTCCTTG GCTGACCAGG GCTCCTGTCC TCCATCCCCA : 37021506 37021505 : CTCCAGATCA TTGCGGCCAC CATTGAGAAT GCGCAGCCCA TTTTGCAGAT : 37021456 532 : ATCA TTGCGGCCAC CATTGAGAAT GCGCAGCCCA TTTTGCAGAT : 575 178 : I I A A T I E N A Q P I L Q I : 192 37021455 : TGACAATGCC AGGCTGGCAG CCGATGACTT CAGGACCAAG TGAGCAGCCA : 37021406 576 : TGACAATGCC AGGCTGGCAG CCGATGACTT CAGGACCAA : 614 193 : D N A R L A A D D F R T K : 205 37021405 : GCATGGTGGG CTGGGGGCAG AGGGCAAGGG ACAAAGAGTG GGGCGGTCCA : 37021356 37021355 : CCCAGCAGGG CCAGCAGACC CCGAGCCTCA GAATCCTCAG GGCTGCAGCC : 37021306 37021305 : TGAGGACCTG ACCTCTGTCC TGCCAGGTAT GAGCATGAAC TGGCCCTGCG : 37021256 615 : GTAT GAGCATGAAC TGGCCCTGCG : 638 206 : Y E H E L A L R : 213 37021255 : GCAGACTGTG GAGGCCGACG TCAATGGCCT GCGCCGGGTG TTGGATGAGC : 37021206 639 : GCAGACTGTG GAGGCCGACG TCAATGGCCT GCGCCGGGTG TTGGATGAGC : 688 214 : Q T V E A D V N G L R R V L D E : 229 37021205 : TGACCCTGGC CAGGACTGAC CTGGAGATGC AGATCGAAGG CCTGAAGGAG : 37021156 689 : TGACCCTGGC CAGGACTGAC CTGGAGATGC AGATCGAAGG CCTGAAGGAG : 738 230 : L T L A R T D L E M Q I E G L K E : 246 37021155 : GAGCTGGCCT ACCTGAGGAA GAACCACGAG GAGGTACGGT CGCTGCTGGC : 37021106 739 : GAGCTGGCCT ACCTGAGGAA GAACCACGAG GAG : 771 247 : E L A Y L R K N H E E : 257 37021105 : TTCCGGGGTG GGAGGCTGGT TTGGTGGGGT TGCCAGATGC ACCCAGGGCC : 37021056 37021055 : AGGAGAGAAG TCTGCTGAAC TGACCGCCTC CTGCCATCCC TTCCCAGGAG : 37021006 772 : GAG : 774 258 : E : 258 37021005 : ATGCTTGCTC TGAGAGGTCA GACCGGCGGA GATGTGAACG TGGAGATGGA : 37020956 775 : ATGCTTGCTC TGAGAGGTCA GACCGGCGGA GATGTGAACG TGGAGATGGA : 824 259 : M L A L R G Q T G G D V N V E M D : 275 37020955 : TGCTGCACCT GGCGTGGACC TGAGCCGCAT CCTGAATGAG ATGCGTGACC : 37020906 825 : TGCTGCACCT GGCGTGGACC TGAGCCGCAT CCTGAATGAG ATGCGTGACC : 874 276 : A A P G V D L S R I L N E M R D : 291 37020905 : AGTACGAGCA GATGGCAGAG AAAAACCGCA GAGACGCTGA GACCTGGTTC : 37020856 875 : AGTACGAGCA GATGGCAGAG AAAAACCGCA GAGACGCTGA GACCTGGTTC : 924 292 : Q Y E Q M A E K N R R D A E T W F : 308 37020855 : CTGAGCAAGG TGGGGCTCGG GCCCGCAGTG AGCCTGCAGC ACTTCCCAGC : 37020806 925 : CTGAGCAAG : 933 309 : L S K : 311 37020805 : TGGGGGCTTT GGGAGAGCCT CACCTTTCAC TCTGCTTTCC TGCCTCAGAC : 37020756 934 : AC : 935 312 : T : 312 37020755 : CGAGGAGCTG AACAAAGAAG TGGCCTCCAA CAGCGAACTG GTACAGAGCA : 37020706 936 : CGAGGAGCTG AACAAAGAAG TGGCCTCCAA CAGCGAACTG GTACAGAGCA : 985 313 : E E L N K E V A S N S E L V Q S : 328 37020705 : GCCGCAGTGA GGTGACGGAG CTCCGGAGGG TGCTCCAGGG CCTGGAGATT : 37020656 986 : GCCGCAGTGA GGTGACGGAG CTCCGGAGGG TGCTCCAGGG CCTGGAGATT : 1035 329 : S R S E V T E L R R V L Q G L E I : 345 37020655 : GAGCTGCAGT CCCAGCTCAG CATGGTATGA AGGACCCAGC ACAGCAGCAG : 37020606 1036 : GAGCTGCAGT CCCAGCTCAG CATG : 1059 346 : E L Q S Q L S M : 353 37020605 : CCCCCAAGTC ACCAGTAATG GCCACCACCC CCTCAAAAAG CCACAGTCTA : 37020556 37020555 : GTTCCACCTT TCTTTTCTCA GGATGGGACC AGGGGACTCA TGGGACCGTT : 37020506 37020505 : ATATAGATAG AGAAACTAAG CCCTAGAATA GTGGGCTAGC TTTTCTCCAT : 37020456 37020455 : ATTGTCTGGC CCATCAGTAC CCCAACTGGG ATCAAAATCC AGGCATCTCT : 37020406 37020405 : CAAAAAACAT GCCCAGAGAC CTGGAGGAAC AGGAGTGACC ACCTCCATGG : 37020356 VARIANTS : T : VARIANTS 37020355 : ACTCTTTTTC TCTCTCTCAC TTGCAGAAAG CATCCCTGGA GAACAGCCTG : 37020306 1060 : AAAG CATCCCTGGA GAACAGCCTG : 1083 354 : K A S L E N S L : 361 VARIANTS : N : VARIANTS 37020305 : GAGGAGACCA AAGGCCGCTA CTGCATGCAG CTGTCCCAGA TCCAGGGACT : 37020256 1084 : GAGGAGACCA AAGGCCGCTA CTGCATGCAG CTGTCCCAGA TCCAGGGACT : 1133 362 : E E T K G R Y C M Q L S Q I Q G L : 378 37020255 : GATTGGCAGT GTGGAGGAGC AGCTGGCCCA GCTACGCTGT GAGATGGAGC : 37020206 1134 : GATTGGCAGT GTGGAGGAGC AGCTGGCCCA GCTACGCTGT GAGATGGAGC : 1183 379 : I G S V E E Q L A Q L R C E M E : 394 37020205 : AGCAGAGCCA GGAGTACCAG ATCTTGCTGG ATGTGAAGAC GCGGCTGGAG : 37020156 1184 : AGCAGAGCCA GGAGTACCAG ATCTTGCTGG ATGTGAAGAC GCGGCTGGAG : 1233 395 : Q Q S Q E Y Q I L L D V K T R L E : 411 VARIANTS : dddddddddd dddddddddd ddd d : VARIANTS 37020155 : CAGGAGATTG CCACCTACCG CCGCCTGCTG GAGGGCGAGG ATGCCCAGTG : 37020106 1234 : CAGGAGATTG CCACCTACCG CCGCCTGCTG GAGGGCGAGG ATGCCCA : 1280 412 : Q E I A T Y R R L L E G E D A H : 427 VARIANTS : dddddddddd dddddddddd dd Q : VARIANTS 37020105 : AGTCCCAGGC CCCTCAGTTC TGCCTCCCAG ACCCTTTAGC CCCCCTGCTG : 37020056 37020055 : CTCTCAGCAC AACTGACTGC CCTGCTTTTT CTCTCCCACA GCCTTTCCTC : 37020006 1281 : CCTTTCCTC : 1289 428 : L S S : 430 37020005 : CCAGCAAGCA TCTGGCCAAT CCTATTCTTC CCGCGAGGGT AAGGCTTCTG : 37019956 1290 : CCAGCAAGCA TCTGGCCAAT CCTATTCTTC CCGCGAGG : 1327 431 : Q Q A S G Q S Y S S R E : 442 37019955 : AGGCTCCCCG GCACTGCAGC CCCTCTGCCT GTTTCCATGG AGTGGGGGCT : 37019906 37019905 : GGGCCCTTCT CCTCAGAGCT CCCAGCCCTC CCTTCTCCCT GCCCTGGAGT : 37019856 37019855 : CAGCTTAGCT CTCAGACCCC TTCTCACCTC CTCTTCTCTC TCCCACAGTC : 37019806 1328 : TC : 1329 443 : V : 443 37019805 : TTCACCTCCT CCTCGTCCTC TTCGAGCCGT CAGACCCGGC CCATCCTCAA : 37019756 1330 : TTCACCTCCT CCTCGTCCTC TTCGAGCCGT CAGACCCGGC CCATCCTCAA : 1379 444 : F T S S S S S S S R Q T R P I L K : 460 37019755 : GGAGCAGAGC TCATCCAGCT TCAGCCAGGG CCAGAGCTCC TAGAACTGAG : 37019706 1380 : GGAGCAGAGC TCATCCAGCT TCAGCCAGGG CCAGAGCTCC TAGAACTGAG : *7 461 : E Q S S S S F S Q G Q S S : 473 37019705 : CTGCCTCTAC CACAGCCTCC TGCCCACCAG CTGGCCTCAC CTCCTGAAGG : 37019656 *8 : CTGCCTCTAC CACAGCCTCC TGCCCACCAG CTGGCCTCAC CTCCTGAAGG : *57 37019655 : CCCGGGTCAG GACCCTGCTC TCCTGGCGCA GTTCCCAGCT ATCTCCCCTG : 37019606 *58 : CCCGGGTCAG GACCCTGCTC TCCTGGCGCA GTTCCCAGCT ATCTCCCCTG : *107 37019605 : CTCCTCTGCT GGTGGTGGGC TAATAAAGCT GACTTTCTGG TTGATGCAAA : 37019556 *108 : CTCCTCTGCT GGTGGTGGGC TAATAAAGCT GACTTTCTGG TTGATGCAAA : *157 37019556 : -- : 37019556 *158 : AA : *159 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 17:12:57 RefSeq ID NM_005557.3 GI 163659905 Length 1720 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -139 AGTTAGGAGG GCCCCGCCTT CCCCAGCTGC ATATAAAGGT CTCTGGGGTT -90 -89 GGAGGCAGCC ACAGCACGCT CTCAGCCTTC CTGAGCACCT TTCCTTCTTT -40 -39 CAGCCAACTG CTCACTCGCT CACCTCCCTC CTTGGCACCA TGACCACCTG 11 12 CAGCCGCCAG TTCACCTCCT CCAGCTCCAT GAAGGGCTCC TGCGGCATCG 61 62 GAGGCGGCAT CGGGGGCGGC TCCAGCCGCA TCTCCTCCGT CCTGGCCGGA 111 112 GGGTCCTGCC GTGCCCCCAG CACCTACGGG GGCGGCCTGT CTGTCTCCTC 161 162 TCGCTTCTCC TCTGGGGGAG CCTGCGGGCT GGGGGGCGGC TATGGCGGTG 211 212 GCTTCAGCAG CAGCAGCAGC TTTGGTAGTG GCTTCGGGGG AGGATATGGT 261 262 GGTGGCCTTG GTGCTGGCTT CGGTGGTGGC TTGGGTGCTG GCTTTGGTGG 311 312 TGGTTTTGCT GGTGGTGATG GGCTTCTGGT GGGCAGTGAG AAGGTGACCA 361 362 TGCAGAACCT CAATGACCGC CTGGCCTCCT ACCTGGACAA GGTGCGTGCT 411 412 CTGGAGGAGG CCAACGCCGA CCTGGAAGTG AAGATCCGTG ACTGGTACCA 461 462 GAGGCAGCGG CCCAGTGAGA TCAAAGACTA CAGTCCCTAC TTCAAGACCA 511 512 TCGAGGACCT GAGGAACAAG ATCATTGCGG CCACCATTGA GAATGCGCAG 561 562 CCCATTTTGC AGATTGACAA TGCCAGGCTG GCAGCCGATG ACTTCAGGAC 611 612 CAAGTATGAG CATGAACTGG CCCTGCGGCA GACTGTGGAG GCCGACGTCA 661 662 ATGGCCTGCG CCGGGTGTTG GATGAGCTGA CCCTGGCCAG GACTGACCTG 711 712 GAGATGCAGA TCGAAGGCCT GAAGGAGGAG CTGGCCTACC TGAGGAAGAA 761 762 CCACGAGGAG GAGATGCTTG CTCTGAGAGG TCAGACCGGC GGAGATGTGA 811 812 ACGTGGAGAT GGATGCTGCA CCTGGCGTGG ACCTGAGCCG CATCCTGAAT 861 862 GAGATGCGTG ACCAGTACGA GCAGATGGCA GAGAAAAACC GCAGAGACGC 911 912 TGAGACCTGG TTCCTGAGCA AGACCGAGGA GCTGAACAAA GAAGTGGCCT 961 962 CCAACAGCGA ACTGGTACAG AGCAGCCGCA GTGAGGTGAC GGAGCTCCGG 1011 1012 AGGGTGCTCC AGGGCCTGGA GATTGAGCTG CAGTCCCAGC TCAGCATGAA 1061 1062 AGCATCCCTG GAGAACAGCC TGGAGGAGAC CAAAGGCCGC TACTGCATGC 1111 1112 AGCTGTCCCA GATCCAGGGA CTGATTGGCA GTGTGGAGGA GCAGCTGGCC 1161 1162 CAGCTACGCT GTGAGATGGA GCAGCAGAGC CAGGAGTACC AGATCTTGCT 1211 1212 GGATGTGAAG ACGCGGCTGG AGCAGGAGAT TGCCACCTAC CGCCGCCTGC 1261 1262 TGGAGGGCGA GGATGCCCAC CTTTCCTCCC AGCAAGCATC TGGCCAATCC 1311 1312 TATTCTTCCC GCGAGGTCTT CACCTCCTCC TCGTCCTCTT CGAGCCGTCA 1361 1362 GACCCGGCCC ATCCTCAAGG AGCAGAGCTC ATCCAGCTTC AGCCAGGGCC 1411 1412 AGAGCTCCTA GAACTGAGCT GCCTCTACCA CAGCCTCCTG CCCACCAGCT *39 *40 GGCCTCACCT CCTGAAGGCC CGGGTCAGGA CCCTGCTCTC CTGGCGCAGT *89 *90 TCCCAGCTAT CTCCCCTGCT CCTCTGCTGG TGGTGGGCTA ATAAAGCTGA *139 *140 CTTTCTGGTT GATGCAAAAA Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 17:12:57 RefSeq ID NP_005548.2 GI 24430192 Isoelectric Point 4.6909 Molecular Weight 51267.7 Daltons Length 473 amino acids Download File | Text Sequence 1 MTTCSRQFTS SSSMKGSCGI GGGIGGGSSR ISSVLAGGSC RAPSTYGGGL 50 51 SVSSRFSSGG ACGLGGGYGG GFSSSSSFGS GFGGGYGGGL GAGFGGGLGA 100 101 GFGGGFAGGD GLLVGSEKVT MQNLNDRLAS YLDKVRALEE ANADLEVKIR 150 151 DWYQRQRPSE IKDYSPYFKT IEDLRNKIIA ATIENAQPIL QIDNARLAAD 200 201 DFRTKYEHEL ALRQTVEADV NGLRRVLDEL TLARTDLEMQ IEGLKEELAY 250 251 LRKNHEEEML ALRGQTGGDV NVEMDAAPGV DLSRILNEMR DQYEQMAEKN 300 301 RRDAETWFLS KTEELNKEVA SNSELVQSSR SEVTELRRVL QGLEIELQSQ 350 351 LSMKASLENS LEETKGRYCM QLSQIQGLIG SVEEQLAQLR CEMEQQSQEY 400 401 QILLDVKTRL EQEIATYRRL LEGEDAHLSS QQASGQSYSS REVFTSSSSS 450 451 SSRQTRPILK EQSSSSFSQG QSS Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 117 1A 118 152 L1 153 163 1B 164 264 L12 265 280 2A 281 299 L2 300 307 2B 308 428 Tail 429 473 Back to top

MONOCLONAL ANTIBODIES

Information last updated on 2008-01-11 15:18:05 Clone Name Species Reported Specificity Epitope Reference AE1 mouse K10, K14, K15, K16, K19 within 1B domain Woodcock-Mitchell et al, 1982, Dhouailly et al, 1989, Böttger et al, 1995 KA4 mouse K14, K15, K16, K19 within 1B domain Nagle et al, 1985, Böttger et al, 1995 Ks 8.12 mouse K13, K16 - Huszar et al, 1986 LL025 mouse K16 - Leigh et al, 1995 LMM3 mouse K16 - Gardner et al, 1986, Mühlhauser et al, 1995 PKK2 mouse K7, K16, K17, K19 - Holthöfer et al, 1984, Juhl et al, 1989 SK 2-27 mouse K14, K16, K17 - Cintorino et al, 1988 Back to top

RELATED SEQUENCES AND MULTIPLE SEQUENCE ALIGNMENT

The following table shows the orthologous sequences in other organisms as indicated by NCBI HomoloGene ID 21145. Information last updated on 2007-08-17 12:31:33 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Rattus norvegicus 303530 NM_001008752.1 NP_001008752.1 Rodents Mus musculus 16666 NM_008470.1 NP_032496.1 Rodents Canis familiaris 490978 XM_548101.2 XP_548101.2 Mammals Vertebrate ClustalW multiple sequence alignments Multiple sequence alignments were created using ClustalW for vertebrate sequences and the results available for viewing, download and visualization. Please use the analysis tools to include other sequences. Type of ClustalW alignment Download in FASTA format View file in FASTA format Nucleotide file view Protein file view Back to top

ASSOCIATED DISEASES
Information last updated on 2009-10-16 14:09:25 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Epidermolytic palmoplantar keratoderma EPPK #144200 Pachyonychia congenita type 1 PC-1 #167200 Palmoplantar keratoderma, nonepidermolytic (focal) FNEPPK #600962 Back to top

SEQUENCE VARIANTS

Note that a single record in the following table may represent multiple people with that particular variant who are in the same family. Click here to download an Excel spreadsheet of this data. Click here to open table in a new window (for ease of viewing and printing). Information last updated on 2009-10-16 14:09:25 * variant associated with disease as a risk factor rather than a causal factor. Note: Sequences are numbered according to latest reference sequence information. Discrepancies may exist with some publications. ID DNA Sequence Variant DNA Sequence Variant Type Protein Sequence Variant Protein Sequence Variant Type Domain Associated Disease Reference 12040 c.1052_1059+16del24 Deletion p.? Unknown - FNEPPK, PC-1 Liao et al, 2007 13673 c.395T>C Substitution p.Leu132Pro Substitution - PC-1 Gruber et al, 2009 9349 c.309_320del12 Deletion p.Gly104_Ala107del Deletion Head EPPK Terrinoni et al, 2000 9609 c.362T>C Substitution p.Met121Thr Substitution 1A PC-1 Terrinoni et al, 2001 9606 c.365A>C Substitution p.Gln122Pro Substitution 1A PC-1 Smith et al, 1999 9607 c.371T>G Substitution p.Leu124Arg Substitution 1A PC-1 Smith et al, 2000 9106 c.371T>C Substitution p.Leu124Pro Substitution 1A PC-1 Smith et al, 2005 9107 c.371T>A Substitution p.Leu124His Substitution 1A PC-1 Smith et al, 2005 9108 c.373A>G Substitution p.Asn125Asp Substitution 1A PC-1 Smith et al, 2005 9346 c.374A>G Substitution p.Asn125Ser Substitution 1A FNEPPK Shamsher et al, 1995 9109 c.374A>G Substitution p.Asn125Ser Substitution 1A FNEPPK Smith et al, 2005 9111 c.374A>G Substitution p.Asn125Ser Substitution 1A PC-1 Smith et al, 2005 12024 c.374A>G Substitution p.Asn125Ser Substitution 1A FNEPPK, PC-1 Liao et al, 2007 12025 c.374A>G Substitution p.Asn125Ser Substitution 1A FNEPPK, PC-1 Liao et al, 2007 12026 c.374A>G Substitution p.Asn125Ser Substitution 1A FNEPPK, PC-1 Liao et al, 2007 9345 c.379C>T Substitution p.Arg127Cys Substitution 1A FNEPPK Shamsher et al, 1995 9110 c.379C>T Substitution p.Arg127Cys Substitution 1A FNEPPK Smith et al, 2005 9605 c.380G>C Substitution p.Arg127Pro Substitution 1A PC-1 Smith et al, 1999 12031 c.380G>C Substitution p.Arg127Pro Substitution 1A PC-1 Liao et al, 2007 12604 c.380G>C Substitution p.Arg127Pro Substitution 1A PC-1 Wu et al, 2008 9610 c.383T>A Substitution p.Leu128Gln Substitution 1A PC-1 Terrinoni et al, 2001 12033 c.383T>A Substitution p.Leu128Gln Substitution 1A PC-1 Liao et al, 2007 9347 c.389_391delCCT Deletion p.Ser130del Deletion 1A PC-1 Smith et al, 1999 9344 c.395T>C Substitution p.Leu132Pro Substitution 1A PC-1 McLean et al, 1995 9112 c.395T>C Substitution p.Leu132Pro Substitution 1A PC-1 Smith et al, 2005 11510 c.395T>C Substitution p.Leu132Pro Substitution 1A PC-1 Smith et al, 2005 9608 c.1062A>T Substitution p.Lys354Asn Substitution 2B PC-1 Connors et al, 2001 9348 c.[1244_1266del23]+[1270delG] Deletion p.[Ala415_Glu422del]+[Glu424Gln] Deletion, Substitution 2B FNEPPK Smith et al, 2000 Back to top