(last modified March 2, 1999)
Submitted to GenBank
LOCUS Dp116 5623 bp mRNA PRI 20-JAN-1998
DEFINITION Human dystrophin cDNA isoform Dp116 (peripheral nerve).
ACCESSION Dp116
KEYWORDS .
SOURCE human.
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Vertebrata; Mammalia; Eutheria;
Primates; Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 106)
AUTHORS Byers,T.J., Lidov,H.G. and Kunkel,L.M.
TITLE An alternative dystrophin transcript specific to peripheral nerve
JOURNAL Nature Genet. 4 (1), 77-81 (1993)
MEDLINE 93291881
REFERENCE 2 (bases 1 to 5623)
AUTHORS den Dunnen,J.T.
TITLE Transcripts of the human dystrophin gene
JOURNAL Unpublished
REMARK More details regarding the nomenclature used, the annotations (e.g.
proper references), RFLP's and mutations found in DMD, BMD and
XLDCM patients, can be obtained from http://www.dmd.nl/
COMMENT Constructed consensus sequence of GenBank S62617 and M18533.
FEATURES Location/Qualifiers
source 1..5623
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp21.2"
5'UTR <1..61
CDS 62..2932
/note="alternative splicing at the 3'end gives several
Dp116 isoforms."
/codon_start=1
/product="dystrophin Dp116"
/translation="MLHRKTYHVKDLQGEIEAHTDVYHNLDENSQKILRSLEGSDDAV
LLQRRLDNMNFKWSELRKKSLNIRSHLEASSDQWKRLHLSLQELLVWLQLKDDELSRQ
APIGGDFPAVQKQNDVHRAFKRELKTKEPVIMSTLETVRIFLTEQPLEGLEKLYQEPR
ELPPEERAQNVTRLLRKQAEEVNTEWEKLNLHSADWQRKIDETLERLQELQEATDELD
LKLRQAEVIKGSWQPVGDLLIDSLQDHLEKVKALRGEIAPLKENVSHVNDLARQLTTL
GIQLSPYNLSTLEDLNTRWKLLQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGPWER
AISPNKVPYYINHETQTTCWDHPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALCL
DLLSLSAACDALDQHNLKQNDQPMDILQIINCLTTIYDRLEQEHNNLVNVPLCVDMCL
NWLLNVYDTGRTGRIRVLSFKTGIISLCKAHLEDKYRYLFKQVASSTGFCDQRRLGLL
LHDSIQIPRQLGEVASFGGSNIEPSVRSCFQFANNKPEIEAALFLDWMRLEPQSMVWL
PVLHRVAAAETAKHQAKCNICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMH
YPMVEYCTPTTSGEDVRDFAKVLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVT
LINFWPVDSAPASSPQLSHDDTHSRIEHYASRLAEMENSNGSYLNDSISPNESIDDEH
LLIQHYCQSLNQDSPLSQPRSPAQILISLESEERGELERILADLEEENRNLQAEYDRL
KQQHEHKGLSPLPSPPEMMPTSPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNKQ
LESQLHRLRQLLEQPQAEAKVNGTTVSSPSTSLQRSDSSQPMLLRVVGSQTSDSMGEE
DLLSPPQDTSTGLEEVMEQLNNSFPSSRGRNTPGKPMREDTM"
misc_feature 62..91
/note="Region: dystrophin Dp116 unique N-terminus"
misc_feature <92..994
/note="Region: central rod domain"
misc_feature <92..280
/note="Region: repeat region 22"
misc_feature 281..667
/note="Region: repeat region 23"
misc_feature 668..994
/note="Region: repeat region 24"
misc_feature 914..1210
/note="Region: hinge region 4"
misc_feature 1040..1150
/note="Region: WW-domain"
misc_feature 1112..2098
/note="dystroglycan binding site"
misc_feature 1172..1774
/note="Region: Cysteine-rich domain"
misc_feature 1262..1345
/note="Region: EF-hand 1"
misc_feature 1406..1492
/note="Region: EF-hand 2"
misc_feature 1772..2929
/note="Region: Carboxy-terminal region"
misc_feature 1793..1936
/note="Region: ZZ-domain"
misc_feature 2204..2356
/note="alpha1-syntrophin binding site"
misc_feature 2357..2479
/note="beta1-syntrophin binding site"
misc_feature 2357..2479
/note="Region: beta1-syntrophin binding site"
misc_feature 2546..2653
/note="Region: (Leu)6-heptad repeat"
3'UTR 2933..5623
polyA_signal 5601..5606
polyA_site 5623
BASE COUNT 1696 a 1181 c 1171 g 1575 t
ORIGIN
1 gggttttctc aggattgcta tgcaacagga tcagtgctgt agtgcccggt tcaagctgaa
61 aatgttacac aggaagacat accatgtaaa ggacctccaa ggtgaaattg aagctcacac
121 agatgtttat cacaacctgg atgaaaacag ccaaaaaatc ctgagatccc tggaaggttc
181 cgatgatgca gtcctgttac aaagacgttt ggataacatg aacttcaagt ggagtgaact
241 tcggaaaaag tctctcaaca ttaggtccca tttggaagcc agttctgacc agtggaagcg
301 tctgcacctt tctctgcagg aacttctggt gtggctacag ctgaaagatg atgaattaag
361 ccggcaggca cctattggag gcgactttcc agcagttcag aagcagaacg atgtacatag
421 ggccttcaag agggaattga aaactaaaga acctgtaatc atgagtactc ttgagactgt
481 acgaatattt ctgacagagc agcctttgga aggactagag aaactctacc aggagcccag
541 agagctgcct cctgaggaga gagcccagaa tgtcactcgg cttctacgaa agcaggctga
601 ggaggtcaat actgagtggg aaaaattgaa cctgcactcc gctgactggc agagaaaaat
661 agatgagacc cttgaaagac tccaggaact tcaagaggcc acggatgagc tggacctcaa
721 gctgcgccaa gctgaggtga tcaagggatc ctggcagccc gtgggcgatc tcctcattga
781 ctctctccaa gatcacctcg agaaagtcaa ggcacttcga ggagaaattg cgcctctgaa
841 agagaacgtg agccacgtca atgaccttgc tcgccagctt accactttgg gcattcagct
901 ctcaccgtat aacctcagca ctctggaaga cctgaacacc agatggaagc ttctgcaggt
961 ggccgtcgag gaccgagtca ggcagctgca tgaagcccac agggactttg gtccagcatc
1021 tcagcacttt ctttccacgt ctgtccaggg tccctgggag agagccatct cgccaaacaa
1081 agtgccctac tatatcaacc acgagactca aacaacttgc tgggaccatc ccaaaatgac
1141 agagctctac cagtctttag ctgacctgaa taatgtcaga ttctcagctt ataggactgc
1201 catgaaactc cgaagactgc agaaggccct ttgcttggat ctcttgagcc tgtcagctgc
1261 atgtgatgcc ttggaccagc acaacctcaa gcaaaatgac cagcccatgg atatcctgca
1321 gattattaat tgtttgacca ctatttatga ccgcctggag caagagcaca acaatttggt
1381 caacgtccct ctctgcgtgg atatgtgtct gaactggctg ctgaatgttt atgatacggg
1441 acgaacaggg aggatccgtg tcctgtcttt taaaactggc atcatttccc tgtgtaaagc
1501 acatttggaa gacaagtaca gatacctttt caagcaagtg gcaagttcaa caggattttg
1561 tgaccagcgc aggctgggcc tccttctgca tgattctatc caaattccaa gacagttggg
1621 tgaagttgca tcctttgggg gcagtaacat tgagccaagt gtccggagct gcttccaatt
1681 tgctaataat aagccagaga tcgaagcggc cctcttccta gactggatga gactggaacc
1741 ccagtccatg gtgtggctgc ccgtcctgca cagagtggct gctgcagaaa ctgccaagca
1801 tcaggccaaa tgtaacatct gcaaagagtg tccaatcatt ggattcaggt acaggagtct
1861 aaagcacttt aattatgaca tctgccaaag ctgctttttt tctggtcgag ttgcaaaagg
1921 ccataaaatg cactatccca tggtggaata ttgcactccg actacatcag gagaagatgt
1981 tcgagacttt gccaaggtac taaaaaacaa atttcgaacc aaaaggtatt ttgcgaagca
2041 tccccgaatg ggctacctgc cagtgcagac tgtcttagag ggggacaaca tggaaactcc
2101 cgttactctg atcaacttct ggccagtaga ttctgcgcct gcctcgtccc ctcagctttc
2161 acacgatgat actcattcac gcattgaaca ttatgctagc aggctagcag aaatggaaaa
2221 cagcaatgga tcttatctaa atgatagcat ctctcctaat gagagcatag atgatgaaca
2281 tttgttaatc cagcattact gccaaagttt gaaccaggac tcccccctga gccagcctcg
2341 tagtcctgcc cagatcttga tttccttaga gagtgaggaa agaggggagc tagagagaat
2401 cctagcagat cttgaggaag aaaacaggaa tctgcaagca gaatatgacc gtctaaagca
2461 gcagcacgaa cataaaggcc tgtccccact gccgtcccct cctgaaatga tgcccacctc
2521 tccccagagt ccccgggatg ctgagctcat tgctgaggcc aagctactgc gtcaacacaa
2581 aggccgcctg gaagccagga tgcaaatcct ggaagaccac aataaacagc tggagtcaca
2641 gttacacagg ctaaggcagc tgctggagca accccaggca gaggccaaag tgaatggcac
2701 aacggtgtcc tctccttcta cctctctaca gaggtccgac agcagtcagc ctatgctgct
2761 ccgagtggtt ggcagtcaaa cttcggactc catgggtgag gaagatcttc tcagtcctcc
2821 ccaggacaca agcacagggt tagaggaggt gatggagcaa ctcaacaact ccttccctag
2881 ttcaagagga agaaataccc ctggaaagcc aatgagagag gacacaatgt aggaagtctt
2941 ttccacatgg cagatgattt gggcagagcg atggagtcct tagtatcagt catgacagat
3001 gaagaaggag cagaataaat gttttacaac tcctgattcc cgcatggttt ttataatatt
3061 catacaacaa agaggattag acagtaagag tttacaagaa ataaatctat atttttgtga
3121 agggtagtgg tattatactg tagatttcag tagtttctaa gtctgttatt gttttgttaa
3181 caatggcagg ttttacacgt ctatgcaatt gtacaaaaaa gttataagaa aactacatgt
3241 aaaatcttga tagctaaata acttgccatt tctttatatg gaacgcattt tgggttgttt
3301 aaaaatttat aacagttata aagaaagatt gtaaactaaa gtgtgcttta taaaaaaaag
3361 ttgtttataa aaacccctaa aaacaaaaca aacacacaca cacacacata cacacacaca
3421 cacaaaactt tgaggcagcg cattgttttg catccttttg gcgtgatatc catatgaaat
3481 tcatggcttt ttcttttttt gcatattaaa gataagactt cctctaccac cacaccaaat
3541 gactactaca cactgctcat ttgagaactg tcagctgagt ggggcaggct tgagttttca
3601 tttcatatat ctatatgtct ataagtatat aaatactata gttatataga taaagagata
3661 cgaatttcta tagactgact ttttccattt tttaaatgtt catgtcacat cctaatagaa
3721 agaaattact tctagtcagt catccaggct tacctgcttg gtctagaatg gatttttccc
3781 ggagccggaa gccaggagga aactacacca cactaaaaca ttgtctacag ctccagatgt
3841 ttctcatttt aaacaacttt ccactgacaa cgaaagtaaa gtaaagtatt ggattttttt
3901 aaagggaaca tgtgaatgaa tacacaggac ttattatatc agagtgagta atcggttggt
3961 tggttgattg attgattgat tgatacattc agcttcctgc tgctagcaat gccacgattt
4021 agatttaatg atgcttcagt ggaaatcaat cagaaggtat tctgaccttg tgaacatcag
4081 aaggtatttt ttaactccca agcagtagca ggacgatgat agggctggag ggctatggat
4141 tcccagccca tccctgtgaa ggagtaggcc actctttaag tgaaggattg gatgattgtt
4201 cataatacat aaagttctct gtaattacaa ctaaattatt atgccctctt ctcacagtca
4261 aaaggaactg ggtggtttgg tttttgttgc ttttttagat ttattgtccc atgtgggatg
4321 agtttttaaa tgccacaaga cataatttaa aataaataaa ctttgggaaa aggtgtaaga
4381 cagtagcccc atcacatttg tgatactgac aggtatcaac ccagaagccc atgaactgtg
4441 tttccatcct ttgcatttct ctgcgagtag ttccacacag gtttgtaagt aagtaagaaa
4501 gaaggcaaat tgattcaaat gttacaaaaa aacccttctt ggtggattag acaggttaaa
4561 tatataaaca aacaaacaaa aattgctcaa aaaagaggag aaaagctcaa gaggaaaagc
4621 taaggactgg taggaaaaag ctttactctt tcatgccatt ttatttcttt ttgattttta
4681 aatcattcat tcaatagata ccaccgtgtg acctataatt ttgcaaatct gttacctctg
4741 acatcaagtg taattagctt ttggagagtg ggctgacatc aagtgtaatt agcttttgga
4801 gagtgggttt tgtccattat taataattaa ttaattaaca tcaaacacgg cttctcatgc
4861 tatttctacc tcactttggt tttggggtgt tcctgataat tgtgcacacc tgagttcaca
4921 gcttcaccac ttgtccattg cgttattttc tttttccttt ataattcttt ctttttcctt
4981 cataattttc aaaagaaaac ccaaagctct aaggtaacaa attaccaaat tacatgaaga
5041 tttggttttt gtcttgcatt tttttccttt atgtgacgct ggaccttttc tttacccaag
5101 gatttttaaa actcagattt aaaacaaggg gttactttac atcctactaa gaagtttaag
5161 taagtaagtt tcattctaaa atcagaggta aatagagtgc ataaataatt ttgttttaat
5221 ctttttgttt ttcttttaga cacattagct ctggagtgag tctgtcataa tatttgaaca
5281 aaaattgaga gctttattgc tgcattttaa gcataattaa tttggacatt atttcgtgtt
5341 gtgttcttta taaccaccga gtattaaact gtaaatcata atgtaactga agcataaaca
5401 tcacatggca tgttttgtca ttgttttcag gtactgagtt cttacttgag tatcataata
5461 tattgtgttt taacaccaac actgtaacat ttacgaatta tttttttaaa cttcagtttt
5521 actgcatttt cacaacatat cagacttcac caaatatatg ccttactatt gtattatagt
5581 actgctttac tgtgtatctc aataaagcac gcagttatgt tac
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