LOCUS       AF521879                1426 bp    mRNA    linear   HUM 24-AUG-2006
DEFINITION  Homo sapiens mutant desmin mRNA, complete cds.
ACCESSION   AF521879
VERSION     AF521879.1
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 1426)
  AUTHORS   Kaminska,A., Strelkov,S.V., Goudeau,B., Olive,M., Dagvadorj,A.,
            Fidzianska,A., Simon-Casteras,M., Shatunov,A., Dalakas,M.C.,
            Ferrer,I., Kwiecinski,H., Vicart,P. and Goldfarb,L.G.
  TITLE     Small deletions disturb desmin architecture leading to breakdown of
            muscle cells and development of skeletal or cardioskeletal myopathy
  JOURNAL   Hum. Genet. 114 (3), 306-313 (2004)
   PUBMED   14648196
REFERENCE   2  (bases 1 to 1426)
  AUTHORS   Dagvadorj,A.
  TITLE     In frame deletion of one amino acid in desmin alpha-helical domain
            causes a specific type of muscular dystrophy
  JOURNAL   Unpublished
REFERENCE   3  (bases 1 to 1426)
  AUTHORS   Dagvadorj,A.
  TITLE     Direct Submission
  JOURNAL   Submitted (14-JUN-2002) Clinical Neurogenetics Unit, NINDS/NIH, 10
            Center Drive, Bethesda, MD 20892/1361, USA
FEATURES             Location/Qualifiers
     source          1..1426
                     /db_xref="H-InvDB:HIT000081203"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     CDS             1..1410
                     /codon_start=1
                     /product="mutant desmin"
                     /protein_id="AAN15036.1"
                     /translation="MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKG
                     SSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTPSSYGAGELLDFSLADAVNQEFL
                     TTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR
                     ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAA
                     TLARIDLERRIESLNEEIAFLKKVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRD
                     IRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCE
                     IDALKGTNDSLMRQMRELEDRFASEASGYQDIARLEEEIRHLKDEMARHLREYQDLLN
                     VKMALDVEIATYRKLLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTI
                     ETRDGEVVSEATQQQHEVL"
     variation       1097
                     /note="results in Ile to Asn change in wildtype protein"
                     /replace="a"
BASE COUNT          319 a          425 c          458 g          224 t
ORIGIN      
        1 atgagccagg cctactcgtc cagccagcgc gtgtcctcct accgccgcac cttcggcggg
       61 gccccgggct tcccgctcgg ctccccgctg agctcgcccg tgttcccgcg ggcgggtttc
      121 ggctctaagg gctcctccag ctcggtgacg tcccgcgtgt accaggtgtc gcgcacgtcg
      181 ggcggggccg ggggcctggg gtcgctgcgg gccagccggc tggggaccac ccgcacgccc
      241 tcctcctacg gcgcaggcga gctgctggac ttctcactgg ccgacgcggt gaaccaggag
      301 tttctgacca cgcgcaccaa cgagaaggtg gagctgcagg agctcaatga ccgcttcgcc
      361 aactacatcg agaaggtgcg cttcctggag cagcagaacg cggcgctcgc cgccgaagtg
      421 aaccggctca agggccgcga gccgacgcga gtggccgagc tctacgagga ggagctgcgg
      481 gagctgcggc gccaggtgga ggtgctcact aaccagcgcg cgcgcgtcga cgtcgagcgc
      541 gacaacctgc tcgacgacct gcagcggctc aaggccaagc tgcaggagga gattcagttg
      601 aaggaagaag cagagaacaa tttggctgcc ttccgagcgg acgtggatgc agctactcta
      661 gctcgcattg acctggagcg cagaattgaa tctctcaacg aggagatcgc gttccttaag
      721 aaagtgcatg aagaggagat ccgtgagttg caggctcagc ttcaggaaca gcaggtccag
      781 gtggagatgg acatgtctaa gccagacctc actgccgccc tcagggacat ccgggctcag
      841 tatgagacca tcgcggctaa gaacatttct gaagctgagg agtggtacaa gtcgaaggtg
      901 tcagacctga cccaggcagc caacaagaac aacgacgccc tgcgccaggc caagcaggag
      961 atgatggaat accgacacca gatccagtcc tacacctgcg agattgacgc cctgaagggc
     1021 actaacgatt ccctgatgag gcagatgcgg gaattggagg accgatttgc cagtgaggcc
     1081 agtggctacc aggacattgc gcgcctggag gaggaaatcc ggcacctcaa ggatgagatg
     1141 gcccgccatc tgcgcgagta ccaggacctg ctcaacgtga agatggccct ggatgtggag
     1201 attgccacct accggaagct gctggaggga gaggagagcc ggatcaatct ccccatccag
     1261 acctactctg ccctcaactt ccgagaaacc agccctgagc aaaggggttc tgaggtccat
     1321 accaagaaga cggtgatgat caagaccatc gagacacggg atggggaggt cgtcagtgag
     1381 gccacacagc agcagcatga agtgctctaa agacgagaga ccctct
//