LOCUS HSU66035 1169 bp mRNA linear HUM 08-MAY-1998 DEFINITION Human X-linked deafness dystonia protein (DDP) mRNA, complete cds. ACCESSION U66035 VERSION U66035.1 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 1169) AUTHORS Jin,H., May,M., Tranebjaerg,L., Kendall,E., Fontan,G., Jackson,J., Subramony,S.H., Arena,F., Lubs,H., Smith,S., Stevenson,R., Schwartz,C. and Vetrie,D. TITLE A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness JOURNAL Nat. Genet. 14 (2), 177-180 (1996) PUBMED 8841189 REFERENCE 2 (bases 1 to 1169) AUTHORS Jin,H., May,M., Tranebjaerg,L., Kendall,E., Fontan,G., Jackson,J., Subramony,S.H., Arena,F., Lubs,H., Smith,S., Stevenson,R., Schwartz,C. and Vetrie,D. TITLE Direct Submission JOURNAL Submitted (05-AUG-1996) Division of Medical and Molecular Genetics, UMDS, Guy's Hospital, London SE19RT, UK FEATURES Location/Qualifiers source 1..1169 /db_xref="H-InvDB:HIT000220895" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /map="Xq22" gene 1..1169 /gene="DDP" CDS 36..329 /gene="DDP" /codon_start=1 /product="X-linked deafness dystonia protein" /protein_id="AAC15946.1" /translation="MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCW EKCMDKPGPKLDSRAEACFVNCVERFIDTSQFILNRLEQTQKSKPVFSESLSD" BASE COUNT 334 a 213 c 267 g 354 t ORIGIN 1 gcggagttcg tctctgcaag cttggtcgcc ctgggatgga ttcctcctcc tcttcctccg 61 cggcgggttt gggtgcagtg gacccacagt tgcagcattt catcgaggta gagactcaaa 121 agcagcgctt ccagcagctg gtgcaccaga tgactgaact ttgttgggag aagtgcatgg 181 acaagcctgg gccaaagttg gacagtcggg ctgaggcctg ttttgtgaac tgcgttgagc 241 gcttcattga tacaagccag ttcatcttga atcgactgga acagacccag aaatccaagc 301 cagttttctc agaaagcctt tctgactgat ctcagcatta cctctttgga aaaggaaggt 361 agttcaagaa atgaagagct gttgatggga tgattgaaga aacagctatg agaggattgg 421 ctcccatctt ttgttactct tgggacatcc tgtcatctga gaatgaacaa agaccaattt 481 tttgtgtgtg aagcttaagg gtcatatgtt tgcttgtatt ttttaatgct aatcttgtga 541 aaataattga caggcgaaag aaaactctat ttagatgcat attactgtac atgggactat 601 gcttttctca aagccccatt aactgcttcc tataattttg atagtgggac cacatacgta 661 aaaatctctc atttgtgtgg agtcatttct gatttcaggg gagatccttg tgtttatcag 721 aaagggcaga agtaggggaa gaataatttg gtatccttat ctagtgtttg attgtcaatg 781 ctggagaaaa atatctgtaa gagtgtttat acagtacact tcagttatct tgatctccct 841 ttcctatatg atgatttgct taaatatcca tattaagtaa gtctcaaggt agggtaggca 901 gcctgagagt ctagaggcct ttagttataa aggaatctag ccagtgaaca taattcttat 961 tactagactg ccacaaggaa gaaattaact taccctgtat atcagggtac aaaaaattca 1021 gtgatgtgcc taaataagtt ataaagattt aggccaatca gaagctaaca gcagtttcag 1081 gtagaggtgc atgcctaatg ttagttagtg tagattccat ttactgcatt cttctgatca 1141 ctgaaataaa agctatataa gattcatan //