From: GenBank-Updates@genbank.bio.net
Newsgroups: bionet.molbio.genbank.updates
Subject: Homo sapiens mevalonate kinase mRNA, complete cds.
Date: 28 Jul 92 10:03:12 GMT
Distribution: bionet
Checksum: 13763     5

LOCUS       HUMMEVKIN    1968 bp ss-mRNA            PRI       28-JUL-1992
DEFINITION  Homo sapiens mevalonate kinase mRNA, complete cds.
ACCESSION   M88468
KEYWORDS    mevalonate kinase.
SOURCE      Homo sapiens young male skin cDNA to mRNA.
  ORGANISM  Homo sapiens
            Eukaryota; Animalia; Chordata; Vertebrata; Mammalia; Theria;
            Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE   1  (bases 1 to 1968)
  AUTHORS   Schafer,B.L., Bishop,R.W., Kratunis,V.J., Kalinowski,S.S.,
            Mosley,S.T., Gibson,K.M. and Tanaka,R.D.
  TITLE     Molecular cloning of human mevalonate kinase and identification of
            a missense mutation in the genetic disease mevalonic aciduria
  JOURNAL   J. Biol. Chem. 267, 13229-13238 (1992)
  STANDARD  full automatic
FEATURES             Location/Qualifiers
     5'UTR           1..91
     CDS             92..1282
                     /EC_number="2.7.1.36"
                     /product="mevalonate kinase"
                     /codon_start=1
                     /translation="MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPH
                     SNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCA
                     VTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTV
                     CEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQ
                     GKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECE
                     RVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGA
                     GGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQA
                     LDGL"
     mutation        replace(993
                     /note="'mevalonic aciduria missense mutation'"
                     /note="'C' in mutation"
     3'UTR           1283..1968
     polyA_signal    1946
BASE COUNT      381 a    601 c    597 g    389 t
ORIGIN
        1 caaaacaaaa ggtagtgggg agctgctccg gcttcggcgc ggaggggcgg cggccgggga
       61 ggcggcggcg gcggcaggat tcccaggagc catgttgtca gaagtcctac tggtgtctgc
      121 tccggggaaa gtcatccttc atggagaaca tgccgtggta catggcaagg tagcactggc
      181 tgtatccttg aacttgagaa cattcctccg gcttcaaccc cacagcaatg ggaaagtgga
      241 cctcagctta cccaacattg gtatcaagcg ggcctgggat gtggccaggc ttcagtcact
      301 ggacacaagc tttctggagc aaggtgatgt cacaacaccc acctcagagc aagtggagaa
      361 gctaaaggag gttgcaggct tgcctgacga ctgtgctgtc accgagcgcc tggctgtgct
      421 ggcctttctt tacttatacc tgtccatctg ccggaagcag agggccctgc cgagcctgga
      481 tatcgtagtg tggtcggagc tgccccccgg ggcgggcttg ggctccagcg ccgcctactc
      541 ggtgtgtctg gcagcagccc tcctgactgt gtgcgaggag atcccaaacc cgctgaagga
      601 cggggattgc gtcaacaggt ggaccaagga ggatttggag ctaattaaca agtgggcctt
      661 ccaaggggag agaatgattc acgggaaccc ctccggagtg gacaatgctg tcagcacctg
      721 gggaggagcc ctccgatacc atcaagggaa gatttcatcc ttaaagaggt cgccagctct
      781 ccagatcctg ctgaccaaca ccaaagtccc tcgcaatacc agggcccttg tggctggcgt
      841 cagaaacagg ctgctcaagt tcccagagat cgtggccccc ctcctgacct caatagatgc
      901 catctccctg gagtgtgagc gcgtgctggg agagatgggg gaagccccag ccccggagca
      961 gtacctcgtg ctggaagagc tcattgacat gaaccagcac catctgaatg ccctcggcgt
     1021 gggccacgcc tctctggacc agctctgcca ggtgaccagg gcccgcggac ttcacagcaa
     1081 gctgactggc gcaggcggtg gtggctgtgg catcacactc ctcaagccag ggctggagca
     1141 gccagaagtg gaggccacga agcaggccct gaccagctgt ggctttgact gcttggaaac
     1201 cagcatcggt gcccccggcg tctccatcca ctcagccacc tccctggaca gccgagtcca
     1261 gcaagccctg gatggcctct gagaggagcc cacgacactg cagccccacc cagatgcccc
     1321 tttctggatt attctggggg ctgcagttcg actctgtgct ggccagcgag cgcccagctc
     1381 ctgacactgc tggagaggcc ccagccgctt ggcgatgcca gccaagctct gcagtcccag
     1441 cggtgggacc tagggaggca tggtctgccc tctgcatcct ctggagccag ccgagcagga
     1501 ggcctaggag ggtcctctga gactccagac ctgaggcgag aagggctgct tccctgaagc
     1561 tcccacagtc ccatctgctt caggcccccg ccttggcctg tgttcttcct ggccgcctgg
     1621 gtccaatgct caggtgctgg ggcctggttc ccggagaagt gtgccttctc tctccctttt
     1681 cagggacggc cccctgtctc tcagggccag gcctctccct cctccaggaa gccttcccct
     1741 accccttgtc gcccctccct cccagagcac ctgctgtctg ggtggctcac tcagcacttg
     1801 gtgtggcctt cccttctacc tagcgggatg gggctccccc aggggctgtc ccggaggcgg
     1861 tgggcctggt taaataaggc agggtttata tgcactttct tccgatctgt acctgagagg
     1921 tttgtggaaa agatggcaaa tggggaataa aaagattttg tgtcaaca
//