LOCUS AF147787 4471 bp DNA linear HUM 28-JUN-1999
DEFINITION Homo sapiens hepatocyte nuclear factor-3 beta gene, complete cds.
ACCESSION AF147787
VERSION AF147787.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 4471)
AUTHORS Hinokio,Y., Horikawa,Y., Furuta,H., Cox,N.J., Iwasaki,N., Honda,M.,
Ogata,M., Iwamoto,Y. and Bell,G.I.
TITLE No Evidence for Diabetes-Associated Mutations in the Hepatocyte
Nuclear Factor-3 beta Gene in Japanese Patients with MODY
JOURNAL Unpublished
REFERENCE 2 (bases 1 to 4471)
AUTHORS Hinokio,Y., Horikawa,Y., Furuta,H., Iwasaki,N., Ogata,M.,
Iwamoto,Y. and Bell,G.I.
TITLE Direct Submission
JOURNAL Submitted (02-MAY-1999) University of Chicago, Howard Hughes
Medical Institute, 5841 S.Maryland Avenue MC1028, Chicago, IL
60637, USA
FEATURES Location/Qualifiers
source 1..4471
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
variation 537
/replace="g"
mRNA join(541..748,1686..1755,2793..4471)
/product="hepatocyte nuclear factor-3 beta"
exon 541..748
/number=1
variation 594
/replace="t"
variation 683
/replace="c"
exon 1686..1755
/number=2
CDS join(1687..1755,2793..4097)
/codon_start=1
/product="hepatocyte nuclear factor-3 beta"
/protein_id="AAD41081.1"
/translation="MLGAVKMEGHEPSDWSSYYAEPEGYSSVSNMNAGLGMNGMNTYM
SMSAAAMGSGSGNMSAGSMNMSSYVGAGMSPSLAGMSPGAGAMAGMGGSAGAAGVAGM
GPHLSPSLSPLGGQAAGAMGGLAPYANMNSMSPMYGQAGLSRARDPKTYRRSYTHAKP
PYSYISLITMAIQQSPNKMLTLSEIYQWIMDLFPFYRQNQQRWQNSIRHSLSFNDCFL
KVPRSPDKPGKGSFWTLHPDSGNMFENGCYLRRQKRFKCEKQLALKEAAGAAGSGKKA
AAGAQASQAQLGEAAGPASETPAGTESPHSSASPCQEHKRGGLGELKGTPAAALSPPE
PAPSPGQQQQAAAHLLGPPHHPGLPPEAHLKPEHHYAFNHPFSINNLMSSEQQHHHSH
HHHQPHKMDLKAYEQVMHYPGYGSPMPGSLAMGPVTNKTGLDASPLAADTSYYQGVYS
RPIMNSS"
exon 2793..4471
/number=3
variation 3014
/replace="t"
variation 3049
/note="S109N"
/replace="a"
variation 3560
/replace="g"
variation 3706
/note="A328V"
/replace="t"
3'UTR 4098..4471
variation 4147
/replace="t"
BASE COUNT 847 a 1451 c 1382 g 790 t
ORIGIN
1 ttccagcctc acccttactc aagcttcaat gcgaagctcc gtgtctgcca tctcgcctgt
61 cttctgccac catcgccccc aattttggac aggtgggctg gatgcccact agttcctatg
121 cattctctgt gtctgagggg gtgggtacag ggctggatcc ccaaggtcca gccaggtttt
181 cagaaccaag aaagagcctc cacatccaaa cacctgcaat atccccccac tccaaatctg
241 ggctcacagg ctaacccaga acagaagaca atttttgaac ccaagagctg ctggggaaat
301 aaaagtatac gattgctgga gtttctaatt tctattaagc agtccctctg gaagacagag
361 aggacagaga cgctcttgaa gtcaactcca tatgccccat cattgattcc tggattcttc
421 tctcctcacc cctccctccc cacctcctgc cctgtttgtt ttagttacga aatgctgtgg
481 gcacctcggt tgtgactgaa aagtaacctt gaaacacgcc ggcctgaata tcagagacaa
541 atctcagcct cccaaccgtc ggccgctgct agaggggctg cttgcgccag gcgccggccg
601 ccccactgcg ggtccctggc ggccggtgtc tgaggagtcg gagagccgag gcggccagac
661 cgtgcgcccc gcgcttctcc cgaggccgtt ccgggtctga actgtaacag ggaggggcct
721 cgcaggagca gcagcgggcg agttaaaggt gtgtacgtag tttttctaaa taggacagcg
781 ctttgcaaat tggctgtcat ggacttgctg ttttgacaga gaatgagcac tgagagcgaa
841 gaaacccggc ataaataaat ccggctttca tagggatctg ccgggcactg aggctggacg
901 cgccctccga caggcgcacc gggcgcccgg cgcgatgaga cggggcgggg gctggaggcc
961 ggagccgccc cagagggtgg tttcctccca ggtccctcct tcctcagggg actcgctgtg
1021 gacccgggag gaaagggggc tcgaccaggg atcccgcgtg cccgatcgcc cgcccagccc
1081 gctcccctgg cccgcccagg agtgcggggc gccgcggcgg tggggcggac ggcaggcgct
1141 gagggacagg tgcggagcgc cggctgcggc tacctctcac ctatgtgtga gctgattatt
1201 caaatgggct gccccgggtc tggggattgg aggcccgcnc cagcgcgccg cgctatatca
1261 ccagcctccc acgtcactgc ggcacttgtc cgctccgcgg tccacacctc ctcctcctcc
1321 tctccccact agcccccgcg ccgcgcgctt cccgccgcct cggggcagct cggcactgcc
1381 aacctcagcc gccacccggc agcccgtgag cgcggcggcg gcgggtgctc cctaccgcgg
1441 ggcgctggcc tgggcctcct ccgctcctcg ccccccccca cctcccgccc acttccaact
1501 accgcctccg gcctgcccag ggagagagag ggagtggagc ccagggagag ggagcgcgag
1561 agagggaggg aggaggggac ggtgctttgg ctgacttttt tttaaaagag ggtgggggtg
1621 gggggtgatt gctggtcgtt tgttgtggct gttaaatttt aaactgccat gcactcggct
1681 tccagtatgc tgggagcggt gaagatggaa gggcacgagc cgtccgactg gagcagctac
1741 tatgcagagc ccgaggtaag cgctcgtctt ttccaggggg aagtggagcg gcggcgctcg
1801 ctccttcccc aacctcagga ccgcttccct cgctggcacc cccccacccc gccccacaac
1861 cccagccttt ctgggcagcc gccttttccg ccctccttgg aatcaaatgg gtctcttttt
1921 tatacgacac actgttagcc ttgagataat attaactttg tgatcaaata ttgacttgcg
1981 gcgcctccaa atcctcttcg tggccgagcc acgcactatc ctaacagagt tatgtttggc
2041 agcgcgcggc tggggagggg tgggaggtcg gccggcgagg gggtggggag ctgaggagga
2101 gaagatgggt aggagttggg ggctgaagtg gaggcagagt caaagactag tggacaaaga
2161 gaaagaaagt ttttgcctgc aaagctcagc cgcgtgtggt tcaggtctcg gttctttccc
2221 tattgccccg ttcagtgcct ccagccgccc ccgcactccg cacaggcact gccttgcagt
2281 ttccctggga caagggaggg ggtccctgga gggagaccgg acagaggggg cccgggacag
2341 tcttcgctgg aggcagcccg aggcgccccg cgcgttgtcc cgcaggttgc ttgctgcgac
2401 cggaggtggc gtccggggac ttcgggcctc ggcgccagct cagtatgctg gtgggagagt
2461 ttggggagac tctggggtag gggaatgtat ttggggtgct ggcttgggag tactccatgg
2521 gacccctgtt ctagaatctg ggcgaggtgg agaagggcta ggaacgggcc acatgcccaa
2581 gcagcaatcc gctcgccacc ttcccaaggg cgatcgatca tgactctccc tgaatgaaac
2641 agactcggag tccggagact gggccatcgg ggacgaaagg gctccccgga ggcctccccg
2701 gacgcggagg cctgggcggt gggtgggagg tctgggcacc ctccagccgc ggtgctaacg
2761 ctgtcgcctc cctcccgggg ctctgtccgc agggctactc ctccgtgagc aacatgaacg
2821 ccggcctggg gatgaacggc atgaacacgt acatgagcat gtcggcggcc gccatgggca
2881 gcggctcggg caacatgagc gcgggctcca tgaacatgtc gtcgtacgtg ggcgctggca
2941 tgagcccgtc cctggcgggg atgtcccccg gcgcgggcgc catggcgggc atgggcggct
3001 cggccggggc ggccggcgtg gcgggcatgg ggccgcactt gagtcccagc ctgagcccgc
3061 tcggggggca ggcggccggg gccatgggcg gcctggcccc ctacgccaac atgaactcca
3121 tgagccccat gtacgggcag gcgggcctga gccgcgcccg cgaccccaag acctacaggc
3181 gcagctacac gcacgcaaag ccgccctact cgtacatctc gctcatcacc atggccatcc
3241 agcagagccc caacaagatg ctgacgctga gcgagatcta ccagtggatc atggacctct
3301 tccccttcta ccggcagaac cagcagcgct ggcagaactc catccgccac tcgctctcct
3361 tcaacgactg tttcctgaag gtgccccgct cgcccgacaa gcccggcaag ggctccttct
3421 ggaccctgca ccctgactcg ggcaacatgt tcgagaacgg ctgctacctg cgccgccaga
3481 agcgcttcaa gtgcgagaag cagctggcgc tgaaggaggc cgcaggcgcc gccggcagcg
3541 gcaagaaggc ggccgccgga gcccaggcct cacaggctca actcggggag gccgccgggc
3601 cggcctccga gactccggcg ggcaccgagt cgcctcactc gagcgcctcc ccgtgccagg
3661 agcacaagcg agggggcctg ggagagctga aggggacgcc ggctgcggcg ctgagccccc
3721 cagagccggc gccctctccc gggcagcagc agcaggccgc ggcccacctg ctgggcccgc
3781 cccaccaccc gggcctgccg cctgaggccc acctgaagcc ggaacaccac tacgccttca
3841 accacccgtt ctccatcaac aacctcatgt cctcggagca gcagcaccac cacagccacc
3901 accaccacca gccccacaaa atggacctca aggcctacga acaggtgatg cactaccccg
3961 gctacggttc ccccatgcct ggcagcttgg ccatgggccc ggtcacgaac aaaacgggcc
4021 tggacgcctc gcccctggcc gcagatacct cctactacca gggggtgtac tcccggccca
4081 ttatgaactc ctcttaagaa gacgacggct tcaggcccgg ctaactctgg caccccggat
4141 cgaggacaag tgagagagca agtgggggtc gagactttgg ggagacggtg ttgcagagac
4201 gcaagggaga agaaatccat aacaccccca ccccaacacc cccaagacag cagtcttctt
4261 cacccgctgc agccgttccg tcccaaacag agggccacac agatacccca cgttctatat
4321 aaggaggaaa acgggaaaga atataaagtt aaaaaaaagc ctccggtttc cactactgtg
4381 tagactcctg cttcttcaag cacctgcaga ttctgatttt tttgttgttg ttgttctcct
4441 ccattgctgt tgttgcaggg aagtcttact t
//