From: GenBank-Updates@net.bio.net
Newsgroups: bionet.molbio.genbank.updates
Subject: Human mRNA for NF1 protein isoform (neurofibromin isoform),
Date: 12 Jan 93 05:46:41 GMT
Distribution: bionet
Checksum: 27150 7

LOCUS       HUMNF1ISO    2265 bp ss-mRNA            PRI       12-JAN-1993
DEFINITION  Human mRNA for NF1 protein isoform (neurofibromin isoform),
            complete cds.
ACCESSION   D12625
KEYWORDS    NF1 protein isoform; nuerofibromatosis type 1.
SOURCE      Homo sapiens placenta cDNA to mRNA, clone pHN-3.
  ORGANISM  Homo sapiens
            Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
            Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE   1  (sites)
  AUTHORS   Xu,G., O'Connell,P., Viskochil,D., Robertson,M., Culver,M.,
            Dunn,D., Stevens,J., Gesteland,R., White,R. and Weiss,R.
  TITLE     The Neurofibromatosis type 1 gene encodes a protein related to GAP
  JOURNAL   Cell 62, 599-608 (1990)
  STANDARD  full automatic
REFERENCE   2  (sites)
  AUTHORS   Marchuk,D., Saulino,A., Tavakkol,R., Swaroop,M., Wallace,M.,
            Andersen,L., Mitchell,A., Gutmann,D., Boguski,M.S. and Collins,F.
  TITLE     cDNA cloning of the type 1 Neurofibromatosis gene: Complete
            sequence of the NF1 gene product
  JOURNAL   Genomics 11, 931-940 (1991)
  STANDARD  full automatic
REFERENCE   3  (bases 1 to 2265)
  AUTHORS   Suzuki,H., Takahashi,K., Kubota,Y. and Shibahara,S.
  TITLE     Molecular cloning of a cDNA coding for neurofibromatosis type 1
            protein isoform lacking the domain related to ras GTPase-activating
            protein
  JOURNAL   Biochem. Biophys. Res. Commun. 187, 984-990 (1992)
  STANDARD  full automatic
COMMENT     Submitted (13-JUL-1992) to DDBJ by: Shigeki Shibahara Dept. of
            Applied Physiology and Molecular Biology Tohoku University School
            of Medicine 2-1 Seiryomachi, Aoba Sendai, Miyagi 980 Japan Phone:
            022-274-1111 x2221 Fax:    022-272-7273.
FEATURES             Location/Qualifiers
     variation       1085
                     /note="replace (1085,'g') in reference [1] and [2]"
     variation       1772
                     /note="replace (1772,'c') in reference [1] and [2]"
     variation       1871
                     /note="replace (1871,'a') in reference [1] and [2]; amino
                     acid substitution (M to I)"
     polyA_signal    2244..2249
     polyA_site      2265
     CDS             384..2039
                     /gene="NF1"
                     /note="lacking a domain related to ras GTPase-activating
                     protein"
                     /product="NF1 protein isoform"
                     /codon_start=1
                     /translation="MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLI
                     NISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTM
                     RLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTR
                     LQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEK
                     AFWNWVENYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLIL
                     CPEIIQDISKDVVDENNMNKKLFLDSLRKALAGHGGSRQLTESAAIACVKLCKASTYI
                     NWEDNSVIFLLVQSMVVDLKNLLFNPSKPFSRGSQPADVDLMIDCLVSCFRISPHNNQ
                     HFKICLAQNSPSTFHYVLVNSLHRIITNSALDWWPKIDAVYCHSVELRNMFGETLHKA
                     VQGCGAHPAIRMAPSLTFKEKVTSLKFKEKPTDLETRSYKYLLLSMVKLIHADPKLLL
                     CNPRKQGPETQGSTAELITGLVQLVPQSHMPEIAQEAMEVRGK"
BASE COUNT      636 a    545 c    487 g    597 t
ORIGIN      
        1 aatctctagc tcgctcgcgc tccctctccc cgggccgtgg aaaggatccc acttccggtg
       61 gggtgtcatg gcggcgtctc ggactgtgat ggctgtgggg agacggcgct agtggggaga
      121 gcgaccaaga ggccccctcc cctccccggg tccccttccc ctatccccct ccccccagcc
      181 tccttgccaa cgcccccttt ccctctcccc ctcccgctcg gcgctgaccc cccatcccca
      241 cccccgtggg aacactggga gcctgcactc cacagaccct ctccttgcct cttccctcac
      301 ctcagcctcc gctccccgcc ctcttcccgg cccagggcgc cggcccaccc ttccctccgc
      361 cgccccccgg ccgcggggag gacatggccg cgcacaggcc ggtggaatgg gtccaggccg
      421 tggtcagccg cttcgacgag cagcttccaa taaaaacagg acagcagaac acacatacca
      481 aagtcagtac tgagcacaac aaggaatgtc taatcaatat ttccaaatac aagttttctt
      541 tggttataag cggcctcact actattttaa agaatgttaa caatatgaga atatttggag
      601 aagctgctga aaaaaattta tatctctctc agttgattat attggataca ctggaaaaat
      661 gtcttgctgg gcaaccaaag gacacaatga gattagatga aacgatgctg gtcaaacagt
      721 tgctgccaga aatctgccat tttcttcaca cctgtcgtga aggaaaccag catgcagctg
      781 aacttcggaa ttctgcctct ggggttttat tttctctcag ctgcaacaac ttcaatgcag
      841 tctttagtcg catttctacc aggttacagg aattaactgt ttgttcagaa gacaatgttg
      901 atgttcatga tatagaattg ttacagtata tcaatgtgga ttgtgcaaaa ttaaaacgac
      961 tcctgaagga aacagcattt aaatttaaag ccctaaagaa ggttgcgcag ttagcagtta
     1021 taaatagcct ggaaaaggca ttttggaact gggtagaaaa ttatccagat gaatttacaa
     1081 aactatacca gatcccacag actgatatgg ctgaatgtgc agaaaagcta tttgacttgg
     1141 tggatggttt tgctgaaagc accaaacgta aagcagcagt ttggccacta caaatcattc
     1201 tccttatctt gtgtccagaa ataatccagg atatatccaa agacgtggtt gatgaaaaca
     1261 acatgaataa gaagttattt ctggacagtc tacgaaaagc tcttgctggc catggaggaa
     1321 gtaggcagct gacagaaagt gctgcaattg cctgtgtcaa actgtgtaaa gcaagtactt
     1381 acatcaattg ggaagataac tctgtcattt tcctacttgt tcagtccatg gtggttgatc
     1441 ttaagaacct gctttttaat ccaagtaagc cattctcaag aggcagtcag cctgcagatg
     1501 tggatctaat gattgactgc cttgtttctt gctttcgtat aagccctcac aacaaccaac
     1561 actttaagat ctgcctggct cagaattcac cttctacatt tcactatgtg ctggtaaatt
     1621 cactccatcg aatcatcacc aattccgcat tggattggtg gcctaagatt gatgctgtgt
     1681 attgtcactc ggttgaactt cgaaatatgt ttggtgaaac acttcataaa gcagtgcaag
     1741 gttgtggagc acacccagca atacgaatgg caccgagtct tacatttaaa gaaaaagtaa
     1801 caagccttaa atttaaagaa aaacctacag acctggagac aagaagctat aagtatcttc
     1861 tcttgtccat ggtgaaacta attcatgcag atccaaagct cttgctttgt aatccaagaa
     1921 aacaggggcc cgaaacccaa ggcagtacag cagaattaat tacagggctc gtccaactgg
     1981 tccctcagtc acacatgcca gagattgctc aggaagcaat ggaggtaagg ggaaaatgaa
     2041 ttccatgttc ttgaaggaaa gactgtaact atgtacattc atgatgttcc tttggtgtgt
     2101 ggtttctgtg agtaacaggt agatgtcatt tctggaaatg gtatgtttat gtctatacat
     2161 tgttttataa aactccatgg agaaagaagg ggtttacttg ctttgtatca catagcaata
     2221 acattgtaca aattctgatg cttaataaaa tagttcgaga ttttc
//