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In frame deletion of one amino acid in desmin alpha-helical domain causes a specific type of muscular dystrophy JOURNAL Unpublished REFERENCE 3 (bases 1 to 1426) AUTHORS Dagvadorj,A. TITLE Direct Submission JOURNAL Submitted (14-JUN-2002) Clinical Neurogenetics Unit, NINDS/NIH, 10 Center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 //