LOCUS HUMNF1MRNB 7790 bp mRNA linear HUM 25-AUG-1995
DEFINITION Human neurofibromatosis type 1 (NF-1) mRNA, 3' end of cds.
ACCESSION M38107 M57449
VERSION M38107.1
KEYWORDS neurofibromatosis protein type 1.
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 7790)
AUTHORS Cawthon,R.M., Weiss,R.L., Xu,G., Viskochil,D., Culver,M.,
Stevens,J., Robertson,M., Dunn,D., Gesteland,R., O'Connell,P. and
White,R.
TITLE A major segment of the neurofibromatosis type 1 gene: cDNA
sequence, genomic structure, and point mutations
JOURNAL Cell 62 (1), 193-201 (1990)
PUBMED 2114220
REFERENCE 2 (bases 1 to 7790)
AUTHORS Xu,G., O'Connell,P., Viskochil,D., Cawthon,R., Robertson,M.,
Culver,M., Dunn,D., Stevens,J., Gesteland,R., White,R. and
Weiss,R.L.
TITLE The neurofibromatosis type 1 gene encodes a protein related to GAP
JOURNAL Cell 62 (3), 599-608 (1990)
PUBMED 2116237
COMMENT Original source text: Homo sapiens fetus brain cDNA to mRNA.
FEATURES Location/Qualifiers
source 1..7790
/db_xref="H-InvDB:HIT000195738"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/tissue_type="brain"
/dev_stage="fetus"
gene 1..7790
/gene="NF-1"
CDS <1..7512
/gene="NF-1"
/codon_start=1
/product="neurofibromatosis protein type 1"
/protein_id="AAB59558.1"
/translation="NWEDNSVIFLLVQSMVVDLKNLLFNPSKPFSRGSQPADVDLMID
CLVSCFRISPHNNQHFKICLAQNSPSTFHYVLVNSLHRIITNSALDWWPKIDAVYCHS
VELRNMFGETLHKAVQGCGAHPAIRMAPSLTFKEKVTSLKFKEKPTDLETRSYKYLLL
SIVKLIHADPKLLLCNPRKQGPETQGSTAELITGLVQLVPQSHMPEIAQEAMEALLVL
HQLDSIDLWNPDAPVETFWEISSQMLFYICKKLTSHQMLSSTEILKWLREILICRNKF
LLKNKQADRSSCHFLLFYGVGCDIPSSGNTSQMSMDHEELLRTPGASLRKGKGNSSMD
SAAGCSGTPPICRQAQTKLEVALYMFLWNPDTEAVLVAMSCFRHLCEEADIRCGVDEV
SVHNLLPNYNTFMEFASVSNMMSTGRAALQKRVMALLRRIEHPTAGNTEAWEDTHAKW
EQATKLILNYPKAKMEDGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINMTG
FLCALGGVCLQQRSNSGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLS
LMVCNHEKVGLQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDSQGQVLLTDTNT
QFVEQTIAIMKNLLDNHTEGSSEHLGQASIETMMLNLVRYVRVLGNMVHAIQIKTKLC
QLVEVMMARRDDLSFCQEMKFRNKMVEYLTDWVMGTSNQAADDDVKCLTRDLDQASME
AVVSLLAGLPLQPEEGDGVELMEAKSQLFLKYFTLFMNLLNDCSEVEDESAQTGGRKR
GMSRRLASLRHCTVLAMSNLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQG
TEFDTLAETVLADRFERLVELVTMMGDQGELPIAMALANVVPCSQWDELARVLVTLFD
SRHLLYQLLWNMFSKEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKLLDPLLR
IVITSSDWQHVSFEVDPTRLEPSESLEENQRNLLQMTEKFFHAIISSSSEFPPQLRSV
CHCLYQVVSQRFPQNSIGAVGSAMFLRFINPAIVSPYEAGILDKKPPPRIERGLKLMS
KILQSIANHVLFTKEEHMRPFNDFVKSNFDAARRFFLDIASDCPTSDAVNHSLSFISD
GNVLALHRLLWNNQEKIGQYLSSNRDHKAVGRRPFDKMATLLAYLGPPEHKPVADTHW
SSLNLTSSKFEEFMTRHHQVHEKEEFKALKTLSIFYQAGTSKAGNPIFYYVARRFKTG
QINGDLLIYHVLLTLKPYYAKPYEIVVDLTHTGPSNRFKTDFLSKWFVVFPGFAYDNV
SAVYIYNCNSWVREYTKYHERLLTGLKGSKRLVFIDCPGKLAEHIEHEQQKLPAATLA
LEEDLKVFHNALKLAHKDTKVSIKVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEE
ICLVDENQFTLTIANQGTPLTFMHQECEAIVQSIIHIRTRWELSQPDSIPQHTKIRPK
DVPGTLLNIALLNLGSSDPSLRSAAYNLLCALTCTFNLKIEGQLLETSGLCIPANNTL
FIVSISKTLAANEPHLTLEFLEECISGFSKSSIELKHLCLEYMTPWLSNLVRFCKHND
DAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSLGQITDLLDVVLDSFIKTSATGG
LGSIKAEVMADTAVALASGNVKLVSSKVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAI
LARYMLMLSFNNSLDVAAHLPYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQ
LHFSEETKQVLRLSLTEFSLPKFYLLFGISKVKSAAVIAFRSSYRDRSFSPGSYERET
FALTSLETVTEALLEIMEACMRDIPTCKWLDQWTELAQRFAFQYNPSLQPRALVVFGC
ISKRVSHGQIKQIIRILSKALESCLKGPDTYNSQVLIEATVIALTKLQPLLNKDSPLH
KALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFMAIRNPLEWH
CKQMDHFVGLNFNSNFNFALVGHLLKGYRHPSPAIVARTVRILHTLLTLVNKHRNCDK
FEVNTQSVAYLAALLTVSEEVRSRCSLKHRKSLLLTDISMENVPMDTYPIHHGDPSYR
TLKETQPWSSPKGSEGYLAATYPTVGQTSPRARKSMSLDMGQPSQANTKKLLGTRKSF
DHLISDTKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSESN
VLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILYEYLAEASVVFPKVFPVVHNL
LDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPF
SKQTQIPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANL
NLSNSMTSLATSQHSPASLPCSNSAVFMQLFPHQGIDKENVELSPTTGHCNSGRTRHG
SASQVQKQRSAGSFKRNSIKKIV"
variation 4796
/gene="NF-1"
/note="t in wt; c in neurofibromatosis Leu->Pro"
/replace="c"
variation 4840
/gene="NF-1"
/note="c in wt; t in neurofibromatosis Arg->Stop"
/replace="t"
BASE COUNT 2253 a 1737 c 1636 g 2163 t
ORIGIN
1 aattgggaag ataactctgt cattttccta cttgttcagt ccatggtggt tgatcttaag
61 aacctgcttt ttaatccaag taagccattc tcaagaggca gtcagcctgc agatgtggat
121 ctaatgattg actgccttgt ttcttgcttt cgtataagcc ctcacaacaa ccaacacttt
181 aagatctgcc tggctcagaa ttcaccttct acatttcact atgtgctggt aaattcactc
241 catcgaatca tcaccaattc cgcattggat tggtggccta agattgatgc tgtgtattgt
301 cactcggttg aacttcgaaa tatgtttggt gaaacacttc ataaagcagt gcaaggttgt
361 ggagcacacc cagcaatacg aatggccccg agtcttacat ttaaagaaaa agtaacaagc
421 cttaaattta aagaaaaacc tacagacctg gagacaagaa gctataagta tcttctcttg
481 tccatagtga aactaattca tgcagatcca aagctcttgc tttgtaatcc aagaaaacag
541 gggcccgaaa cccaaggcag tacagcagaa ttaattacag ggctcgtcca actggtccct
601 cagtcacaca tgccagagat tgctcaggaa gcaatggagg ctctgctggt tcttcatcag
661 ttagatagca ttgatttgtg gaatcctgat gctcctgtag aaacattttg ggagattagc
721 tcacaaatgc ttttttacat ctgcaagaaa ttaactagtc atcaaatgct tagtagcaca
781 gaaattctca agtggttgcg ggaaatattg atctgcagga ataaatttct tcttaaaaat
841 aagcaggcag atagaagttc ctgtcacttt ctcctttttt acggggtagg atgtgatatt
901 ccttctagtg gaaataccag tcaaatgtcc atggatcatg aagaattact acgtactcct
961 ggagcctctc tccggaaggg aaaagggaac tcctctatgg atagtgcagc aggatgcagc
1021 ggaacccccc cratttgccg acaagcccag accaaactag aagtggccct gtacatgttt
1081 ctgtggaacc ctgacactga agctgttctg gttgccatgt cctgtttccg ccacctctgt
1141 gaggaagcag atatccggtg tggggtggat gaagtgtcag tgcataacct cttgcccaac
1201 tataacacat tcatggagtt tgcctctgtc agcaatatga tgtcaacagg aagagcagca
1261 cttcagaaaa gagtgatggc actgctgagg cgcattgagc atcccactgc aggaaacact
1321 gaggcttggg aagatacaca tgcaaaatgg gaacaagcaa caaagctaat ccttaactat
1381 ccaaaagcca aaatggaaga tggccaggct gctgaaagcc ttcacaagac cattgttaag
1441 aggcgaatgt cccatgtgag tggaggagga tccatagatt tgtctgacac agactcccta
1501 caggaatgga tcaacatgac tggcttcctt tgtgcccttg gaggagtgtg cctccagcag
1561 agaagcaatt ctggcctggc aacctatagc ccacccatgg gtccagtcag tgaacgtaag
1621 ggttctatga tttcagtgat gtcttcagag ggaaacgcag atacacctgt cagcaaattt
1681 atggatcggc tgttgtcctt aatggtgtgt aaccatgaga aagtgggact tcaaatacgg
1741 accaatgtta aggatctggt gggtctagaa ttgagtcctg ctctgtatcc aatgctattt
1801 aacaaattga agaataccat cagcaagttt tttgactccc aaggacaggt tttattgact
1861 gataccaata ctcaatttgt agaacaaacc atagctataa tgaagaactt gctagataat
1921 catactgaag gcagctctga acatctaggg caagctagca ttgaaacaat gatgttaaat
1981 ctggtcaggt atgttcgtgt gcttgggaat atggtccatg caattcaaat aaaaacgaaa
2041 ctgtgtcaat tagttgaagt aatgatggca aggagagatg acctctcatt ttgccaagag
2101 atgaaattta ggaataagat ggtagaatac ctgacagact gggttatggg aacatcaaac
2161 caagcagcag atgatgatgt aaaatgtctt acaagagatt tggaccaggc aagcatggaa
2221 gcagtagttt cacttctagc tggtctccct ctgcagcctg aagaaggaga tggtgtggaa
2281 ttgatggaag ccaaatcaca gttatttctt aaatacttca cattatttat gaaccttttg
2341 aatgactgca gtgaagttga agatgaaagt gcgcaaacag gtggcaggaa acgtggcatg
2401 tctcggaggc tggcatcact gaggcactgt acggtccttg caatgtcaaa cttactcaat
2461 gccaacgtag acagtggtct catgcactcc ataggcttag gttaccacaa ggatctccag
2521 acaagagcta catttatgga agttctcaca aaaatccttc aacaaggcac agaatttgac
2581 acacttgcag aaacagtatt ggctgatcgg tttgagagat tggtggaact ggtcacaatg
2641 atgggtgatc aaggagaact ccctatagcg atggctctgg ccaatgtggt tccttgttct
2701 cagtgggatg aactagctcg agttctggtt actctgtttg attctcggca tttactctac
2761 caactgctct ggaacatgtt ttctaaagaa gtagaattgg cagactccat gcagactctc
2821 ttccgaggca acagcttggc cagtaaaata atgacattct gtttcaaggt atatggtgct
2881 acctatctac aaaaactcct ggatccttta ttacgaattg tgatcacatc ctctgattgg
2941 caacatgtta gctttgaagt ggatcctacc aggttagaac catcagagag ccttgaggaa
3001 aaccagcgga acctccttca gatgactgaa aagttcttcc atgccatcat cagttcctcc
3061 tcagaattcc cccctcaact tcgaagtgtg tgccactgtt tataccaggt ggttagccag
3121 cgtttccctc agaacagcat cggtgcagta ggaagtgcca tgttcctcag atttatcaat
3181 cctgccattg tctcaccgta tgaagcaggg attttagata aaaagccacc acctagaatc
3241 gaaaggggct tgaagttaat gtcaaagata cttcagagta ttgccaatca tgttctcttc
3301 acaaaagaag aacatatgcg gcctttcaat gattttgtga aaagcaactt tgatgcagca
3361 cgcaggtttt tccttgatat agcatctgat tgtcctacaa gtgatgcagt aaatcatagt
3421 ctttccttca taagtgacgg caatgtgctt gctttacatc gtctactctg gaacaatcag
3481 gagaaaattg ggcagtatct ttccagcaac agggatcata aagctgttgg aagacgacct
3541 tttgataaga tggcaacact tcttgcatac ctgggtcctc cagagcacaa acctgtggca
3601 gatacacact ggtccagcct taaccttacc agttcaaagt ttgaggaatt tatgactagg
3661 catcatcagg tacatgaaaa agaagaattc aaggctttga aaacgttaag tattttctac
3721 caagctggga cttccaaagc tgggaatcct attttttatt atgttgcacg gaggttcaaa
3781 actggtcaaa tcaatggtga tttgctgata taccatgtct tactgacttt aaagccatat
3841 tatgcaaagc catatgaaat tgtagtggac cttacccata ccgggcctag caatcgcttt
3901 aaaacagact ttctctctaa gtggtttgtt gtttttcctg gctttgctta cgacaacgtc
3961 tccgcagtct atatctataa ctgtaactcc tgggtcaggg agtacaccaa gtatcatgag
4021 cggctgctga ctggcctcaa aggtagcaaa aggcttgttt tcatagactg tcctgggaaa
4081 ctggctgagc acatagagca tgaacaacag aaactacctg ctgccacctt ggctttagaa
4141 gaggacctga aggtattcca caatgctctc aagctagctc acaaagacac caaagtttct
4201 attaaagttg gttctactgc tgtccaagta acttcagcag agcgaacaaa agtcctaggg
4261 caatcagtct ttctaaatga catttattat gcttcggaaa ttgaagaaat ctgcctagta
4321 gatgagaacc agttcacctt aaccattgca aaccagggca cgccgctcac cttcatgcac
4381 caggagtgtg aagccattgt ccagtctatc attcatatcc ggacccgctg ggaactgtca
4441 cagcccgact ctatccccca acacaccaag attcggccaa aagatgtccc tgggacactg
4501 ctcaatatcg cattacttaa tttaggcagt tctgacccga gtttacggtc agctgcctat
4561 aatcttctgt gtgccttaac ttgtaccttt aatttaaaaa tcgagggcca gttactagag
4621 acatcaggtt tatgtatccc tgccaacaac accctcttta ttgtctctat tagtaagaca
4681 ctggcagcca atgagccaca cctcacgtta gaatttttgg aagagtgtat ttctggattt
4741 agcaaatcta gtattgaatt gaaacacctt tgtttggaat acatgactcc atggctgtca
4801 aatctagttc gtttttgcaa gcataatgat gatgccaaac gacaaagagt tactgctatt
4861 cttgacaagc tgataacaat gaccatcaat gaaaaacaga tgtacccatc tattcaagca
4921 aaaatatggg gaagccttgg gcagattaca gatctgcttg atgttgtact agacagtttc
4981 atcaaaacca gtgcaacagg tggcttggga tcaataaaag ctgaggtgat ggcagatact
5041 gctgtagctt tggcttctgg aaatgtgaaa ttggtttcaa gcaaggttat tggaaggatg
5101 tgcaaaataa ttgacaagac atgcttatct ccaactccta ctttagaaca acatcttatg
5161 tgggatgata ttgctatttt agcacgctac atgctgatgc tgtccttcaa caattccctt
5221 gatgtggcag ctcatcttcc ctacctcttc cacgttgtta ctttcttagt agccacaggt
5281 ccgctctccc ttagagcttc cacacatgga ctggtcatta atatcattca ctctctgtgt
5341 acttgttcac agcttcattt tagtgaagag accaagcaag ttttgagact cagtctgaca
5401 gagttctcat tacccaaatt ttacttgctg tttggcatta gcaaagtcaa gtcagctgct
5461 gtcattgcct tccgttccag ttaccgggac aggtcattct ctcctggctc ctatgagaga
5521 gagacttttg ctttgacatc cttggaaaca gtcacagaag ctttgttgga gatcatggag
5581 gcatgcatga gagatattcc aacgtgcaag tggctggacc agtggacaga actagctcaa
5641 agatttgcat tccaatataa tccatccctg caaccaagag ctcttgttgt ctttgggtgt
5701 attagcaaac gagtgtctca tgggcagata aagcagataa tccgtattct tagcaaggca
5761 cttgagagtt gcttaaaagg acctgacact tacaacagtc aagttctgat agaagctaca
5821 gtaatagcac taaccaaatt acagccactt cttaataagg actcgcctct gcacaaagcc
5881 ctcttttggg tagctgtggc tgtgctgcag cttgatgagg tcaacttgta ttcagcaggt
5941 accgcacttc ttgaacaaaa cctgcatact ttagatagtc tccgtatatt caatgacaag
6001 agtccagagg aagtatttat ggcaatccgg aatcctctgg agtggcactg caagcaaatg
6061 gatcattttg ttggactcaa tttcaactct aactttaact ttgcattggt tggacacctt
6121 ttaaaagggt acaggcatcc ttcacctgct attgttgcaa gaacagtcag aattttacat
6181 acactactaa ctctggttaa caaacacaga aattgtgaca aatttgaagt gaatacacag
6241 agcgtggcct acttagcagc tttacttaca gtgtctgaag aagttcgaag tcgctgcagc
6301 ctaaaacata gaaagtcact tcttcttact gatatttcaa tggaaaatgt tcctatggat
6361 acatatccca ttcatcatgg tgacccttcc tataggacac taaaggagac tcagccatgg
6421 tcctctccca aaggttctga aggatacctt gcagccacct atccaactgt cggccagacc
6481 agtccccgag ccaggaaatc catgagcctg gacatggggc aaccttctca ggccaacact
6541 aagaagttgc ttggaacaag gaaaagtttt gatcacttga tatcagacac aaaggctcct
6601 aaaaggcaag aaatggaatc agggatcaca acacccccca aaatgaggag agtagcagaa
6661 actgattatg aaatggaaac tcagaggatt tcctcatcac aacagcaccc acatttacgt
6721 aaagtttcag tgtctgaatc aaatgttctc ttggatgaag aagtacttac tgatccgaag
6781 atccaggcgc tgcttcttac tgttctagct acactggtaa aatataccac agatgagttt
6841 gatcaacgaa ttctttatga atacttagca gaggccagtg ttgtgtttcc caaagtcttt
6901 cctgttgtgc ataatttgtt ggactctaag atcaacaccc tgttatcatt gtgccaagat
6961 ccaaatttgt taaatccaat ccatggaatt gtgcagagtg tggtgtacca tgaagaatcc
7021 ccaccacaat accaaacatc ttacctgcaa agttttggtt ttaatggctt gtggcggttt
7081 gcaggaccgt tttcaaagca aacacaaatt ccagactatg ctgagcttat tgttaagttt
7141 cttgatgcct tgattgacac gtacctgcct ggaattgatg aagaaaccag tgaagaatcc
7201 ctcctgactc ccacatctcc ttaccctcct gcactgcaga gccagcttag tatcactgcc
7261 aaccttaacc tttctaattc catgacctca cttgcaactt cccagcattc cccagcttct
7321 ctgccttgct ctaactcagc agttttcatg cagctgttcc ctcatcaagg aatcgacaag
7381 gagaacgttg aactctcccc taccactggc cactgtaaca gtggacgaac tcgccacgga
7441 tccgcaagcc aagtgcagaa gcaaagaagc gctggcagtt tcaaacgtaa tagcattaag
7501 aagatcgtgt gaagcttgct tgctttcttt tttaaaatca acttaacatg ggctcttcac
7561 tagtgacccc ttccctgtcc ttgccctttc cccccatgtt gtaatgctgc acttcctgtt
7621 ttataatgaa cccatccggt ttgccatgtt gccagatgat caactcttcg aagccttgcc
7681 taaatttaat gctgcctttt ctttaacttt ttttcttcta cttttggcgt gtatctggta
7741 tatgtaagtg ttcagaacaa ctgcaaagaa agtgggaggt caggaaactt
//