GenBank-Updates@genbank.bio.net (09/22/90)
LOCUS HUMHEXBY 502 bp ds-DNA PRI 22-SEP-1990
DEFINITION Human beta-N-acetylhexosaminidase (HEXB) gene, intron 5.
ACCESSION M37469
KEYWORDS beta-N-acetylhexosaminidase.
SOURCE Human leukocyte DNA, clone pHexBSX1.6.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (bases 1 to 502)
AUTHORS Neote,K., McInnes,B., Mahuran,D.J. and Gravel,R.A.
TITLE Structure and distribution of an Alu-type deletion mutations in
Sandhoff disease
JOURNAL J. Clin. Invest. (1990) In press
STANDARD full staff_entry
COMMENT Draft entry and computer-readable sequence for [1] kindly submitted
by K.S.Neote, 01-AUG-1990.
Sequence of part of intron 5 of the HEXB gene, approximately 1.5 kb
downstream of exon 5; includes an Alu-repeat that is involved in a
deletion mutation.
FEATURES from to/span description
rpt 33 359 Alu repeat
rpt 33 42 direct repeat flanking 5' Alu sequence
rpt 350 359 direct repeat flanking 3' Alu sequence
site 33 42 Poly-A like structure in Alu sequence
site 218 349 left arm of Alu sequence
site 43 217 right arm of Alu sequence
BASE COUNT 133 a 119 c 96 g 154 t
ORIGIN Chromosome 5.
1 tggattgcag gagagagcca ccgtgcccag ccaaaaatta ttattattat tattattttt
61 ttttctattt agttgaagtc ttgctctgtc gccaggctgg agggcagtgg tgcaatcttg
121 gctcactgca acctccgcct cccggattca agcaattctc ctgcctcggc ctcccgagta
181 gctgggatta caggtgcaca ccaccacacc cagctaattt ttgtattttt agtagagaca
241 gggtttcacc atgttagcca ggatgttctc aatctcctga ccttgtgatc cgcctgcctc
301 agcctcccaa gtgcatggga ttacaggtgt gagccaccac gcctggccta aaaattattt
361 ttacatttac attaatactc tgaatttttt ctccaaaaga cagtcttgtc acttttaaga
421 aacagatgct tagtgtaaaa agtttaaaca atataaatgt gcataaaata ggcagtcatc
481 ccataatttc atttgccaaa ga
//