LOCUS X16889 1295 bp mRNA linear HUM 07-OCT-2008
DEFINITION Human alpha-galactosidase A (alpha-GalA) pseudogene mRNA from
individual with Fabry disease.
ACCESSION X16889
VERSION X16889.1
KEYWORDS alpha-galactosidase; alpha-galactosidase A; Fabry disease;
lysosomal enzyme; sphingolipidosis.
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 1295)
AUTHORS Koide T.
JOURNAL Submitted (13-OCT-1989) to the INSDC. Koide T., Division of Cell
Fusion, National Institute for Basic Biology, Nishigo-naka 38,
Myodaiji-cho, Okazaki 444, Japan.
REFERENCE 2 (bases 1 to 1295)
AUTHORS Koide T., Ishiura M., Iwai K., Inoue M., Kaneda Y., Okada Y.,
Uchida T.
TITLE A case of Fabry's disease in a patient with no alpha-galactosidase
A activity caused by a single amino acid substitution of Pro-40 by
Ser
JOURNAL FEBS Lett. 259(2), 353-356(1990).
PUBMED 2152885
COMMENT This sequence overlaps two others with near perfect homology.
Base 1 is base 22 and base 1294 is 1315 in <X05790>.
Base 79 is base 1 and base 1295 is 1217 in <D00039>
FEATURES Location/Qualifiers
source 1..1295
/db_xref="H-InvDB:HIT000321586"
/organism="Homo sapiens"
/chromosome="X"
/map="Xq21-Xq22"
/mol_type="mRNA"
/clone_lib="lambda gt11 FIS11"
/clone="lambda-AGF11"
/cell_line="FIS"
/tissue_type="fibroblast"
/db_xref="taxon:9606"
CDS 3..1292
/pseudo
/gene="alpha-GalA"
/product="alpha-galactosidase A"
/db_xref="PSEUDO:CAB57834.1"
misc_feature 26
/note="silent mutation"
misc_feature 120
/note="missense mutation"
BASE COUNT 336 a 293 c 334 g 332 t
ORIGIN
1 caatgaagct gaggaaccca gaactgcatc tgggctgcgc gcttgcgctt cgcttcctgg
61 ccctcgtttc ctgggacatc cctggggcta gagcactgga caatggattg gcaaggacgt
121 ctaccatggg ctggctgcac tgggagcgct tcatgtgcaa ccttgactgc caggaagagc
181 cagattcctg catcagtgag aagctcttca tggagatggc agagctcatg gtctcagaag
241 gctggaagga tgcaggttat gagtacctct gcattgatga ctgttggatg gctccccaaa
301 gagattcaga aggcagactt caggcagacc ctcagcgctt tcctcatggg attcgccagc
361 tagctaatta tgttcacagc aaaggactga agctagggat ttatgcagat gttggaaata
421 aaacctgcgc aggcttccct gggagttttg gatactacga cattgatgcc cagacctttg
481 ctgactgggg agtagatctg ctaaaatttg atggttgtta ctgtgacagt ttggaaaatt
541 tggcagatgg ttataagcac atgtccttgg ccctgaatag gactggcaga agcattgtgt
601 actcctgtga gtggcctctt tatatgtggc cctttcaaaa gcccaattat acagaaatcc
661 gacagtactg caatcactgg cgaaattttg ctgacattga tgattcctgg aaaagtataa
721 agagtatctt ggactggaca tcttttaacc aggagagaat tgttgatgtt gctggaccag
781 ggggttggaa tgacccagat atgttagtga ttggcaactt tggcctcagc tggaatcagc
841 aagtaactca gatggccctc tgggctatca tggctgctcc tttattcatg tctaatgacc
901 tccgacacat cagccctcaa gccaaagctc tccttcagga taaggacgta attgccatca
961 atcaggaccc cttgggcaag caagggtacc agcttagaca gggagacaac tttgaagtgt
1021 gggaacgacc tctctcaggc ttagcctggg ctgtagctat gataaaccgg caggagattg
1081 gtggacctcg ctcttatacc atcgcagttg cttccctggg taaaggagtg gcctgtaatc
1141 ctgcctgctt catcacacag ctcctccctg tgaaaaggaa gctagggttc tatgaatgga
1201 cttcaaggtt aagaagtcac ataaatccca caggcactgt tttgcttcag ctagaaaata
1261 caatgcagat gtcattaaaa gacttacttt aaaaa
//