LOCUS HUMHEXA 1092 bp mRNA linear HUM 08-NOV-1994 DEFINITION Human abnormal beta-hexosaminidase alpha chain (HEXA) mRNA, partial cds. ACCESSION J04178 VERSION J04178.1 KEYWORDS beta-hexosaminidase; hydrolase. 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 1092) AUTHORS Ohno,K. and Suzuki,K. TITLE Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease JOURNAL J. Biol. Chem. 263 (34), 18563-18567 (1988) PUBMED 2973464 COMMENT Original source text: Human (infant) fibroblast cell line GM0502B, cDNA to mRNA, clone 9A1. Draft entry and computer-readable sequence for [1] kindly provided by K.Suzuki, 14-SEP-1988. The HEXA gene was isolated from an infant (Ashkenazy Jewish) with Tay-Sachs disease, and exhibited the following abnormalities. A point mutation at the exon 12-intron 12 boundary (bp 88) results in an incorrect splice consensus. The result is that intron 12 is retained as part of the mRNA. Also, intron 13 is polyadenylated after 216 bp and it too is read as part of the mRNA. FEATURES Location/Qualifiers source 1..1092 /db_xref="H-InvDB:HIT000191252" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /map="15q23-q24" gene 1..1092 /gene="HEXA" mRNA <1..1092 /gene="HEXA" /product="HEXA mRNA" misc_feature 1..1092 /gene="HEXA" /note="abnormal beta hexosaminidase alpha-chain (EC 3.2.1.52); G00-120-040" BASE COUNT 285 a 251 c 286 g 270 t ORIGIN Chromosome 15q23-q24. 1 ccctgagcag aaggctctgg tgattggtgg agaggcttgt atgtggggag aatatgtgga 61 caacacaaac ctggtcccca ggctctgcta agggttttcg ggggggaggt ggagggttgg 121 gcctgagagc aggagttctc ccttagagac ccaatcccat ctagccacct ctggactagt 181 acccttcttt caggcctgag agagagcagg ccgtgcaacg agccttctga agatttgtgt 241 gcaatattca ctctccacat gacttccgtc tatatccctc cagctgccct ttggtatgtg 301 ggatagggat tgttaacctt acttcccaga gagataatga ggcctggaga acataggtga 361 gttgctcaag acccagcaca agcatccatg attcctgtaa taaggcttcc ctctgctgtt 421 ttcactgcag ccttaccaag tatggttggg tgtgcaaagt ttacatttta aggacctctg 481 ctgctgccac tgtcattgtg gttaatgatg gctttaaggt ttattcttat tcccgtatct 541 ttgagagagg aagagagtgg gattgctacc cacattttaa tgaaggtgga gctgagccgt 601 agaactctct gggagccatc caacctggct gtggctcata acaaggtatt gatcacttcc 661 tttggcctga gtgagtccag ggtgcctaga caagaggtag cagcctgtgg atgtccagca 721 cctttgcagg gaatacaggg cccaatctgg cacatgcccc ttttcctcca ggcccagagc 781 aggggctgtt gccgaaaggc tgtggagcaa caagttgaca tctgacctga catttgccta 841 tgaacgtttg tcacacttcc gctgtgagtt gctgaggtaa gcaagctgtg gggccttcgc 901 aaggcggagc aggccagatc cagggctggg gaacccctta gagagaggaa gacaataatt 961 aacaatagct aacacttaca gaggcttata gtcagccctc atccacggat tcaaccaact 1021 gcgataaaaa gtattcagga aaaaaaaaat acaacaaaaa atggtacaaa taaaaaatac 1081 tgtataacaa ct //