LOCUS DQ907243 2859 bp mRNA linear HUM 13-SEP-2006
DEFINITION Homo sapiens alpha-glucosidase (GAA) mRNA, GAA-P457L allele,
complete cds.
ACCESSION DQ907243
VERSION DQ907243.1
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 2859)
AUTHORS Ghaffari,S.R., Sabokbar,T., Tahmasebi,S. and Dastan,J.
TITLE Identification of a novel mutation in the acid alpha glucosidase
gene causing juvenile form of Pompe disease in Iranian population
JOURNAL Unpublished
REFERENCE 2 (bases 1 to 2859)
AUTHORS Ghaffari,S.R., Sabokbar,T., Tahmasebi,S. and Dastan,J.
TITLE Direct Submission
JOURNAL Submitted (17-AUG-2006) Genetics, Imam Hospital, Reproductive
Health Research Center, Keshavarz Blvd, 1419733141, Tehran, Iran
FEATURES Location/Qualifiers
source 1..2859
/db_xref="H-InvDB:HIT000393995"
/organism="Homo sapiens"
/mol_type="mRNA"
/isolation_source="27 year old Iranian patient with
clinical features of juvenile form of Pompe disease; both
parents showed heterozygosity for P457L"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q25.2-q25.3"
gene 1..2859
/gene="GAA"
/allele="P457L"
CDS 1..2859
/gene="GAA"
/allele="P457L"
/note="acid maltase; glycogen storage disease type II"
/codon_start=1
/product="alpha-glucosidase"
/protein_id="ABI53718.1"
/translation="MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSG
SSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQ
CEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFF
PKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPRVHSRAPSPLYSVEFSEEPF
GVIVHRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRI
TLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTG
GILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMT
RAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSG
PAGSYRLYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHD
QVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLS
THYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQL
ASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQ
EPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTV
DHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPIEALGSLPPPPAAPREPAI
HSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGE
LFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQ
QVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC"
variation 1370
/gene="GAA"
/note="missense mutation; P457L; compared to NM_000152.2"
/replace="c"
BASE COUNT 512 a 1002 c 842 g 503 t
ORIGIN
1 atgggagtga ggcacccgcc ctgctcccac cggctcctgg ccgtctgcgc cctcgtgtcc
61 ttggcaaccg ctgcactcct ggggcacatc ctactccatg atttcctgct ggttccccga
121 gagctgagtg gctcctcccc agtcctggag gagactcacc cagctcacca gcagggagcc
181 agcagaccag ggccccggga tgcccaggca caccccggcc gtcccagagc agtgcccaca
241 cagtgcgacg tcccccccaa cagccgcttc gattgcgccc ctgacaaggc catcacccag
301 gaacagtgcg aggcccgcgg ctgctgctac atccctgcaa agcaggggct gcagggagcc
361 cagatggggc agccctggtg cttcttccca cccagctacc ccagctacaa gctggagaac
421 ctgagctcct ctgaaatggg ctacacggcc accctgaccc gtaccacccc caccttcttc
481 cccaaggaca tcctgaccct gcggctggac gtgatgatgg agactgagaa ccgcctccac
541 ttcacgatca aagatccagc taacaggcgc tacgaggtgc ccttggagac cccgcgtgtc
601 cacagccggg caccgtcccc actctacagc gtggagttct ccgaggagcc cttcggggtg
661 atcgtgcacc ggcagctgga cggccgcgtg ctgctgaaca cgacggtggc gcccctgttc
721 tttgcggacc agttccttca gctgtccacc tcgctgccct cgcagtatat cacaggcctc
781 gccgagcacc tcagtcccct gatgctcagc accagctgga ccaggatcac cctgtggaac
841 cgggaccttg cgcccacgcc cggtgcgaac ctctacgggt ctcacccttt ctacctggcg
901 ctggaggacg gcgggtcggc acacggggtg ttcctgctaa acagcaatgc catggatgtg
961 gtcctgcagc cgagccctgc ccttagctgg aggtcgacag gtgggatcct ggatgtctac
1021 atcttcctgg gcccagagcc caagagcgtg gtgcagcagt acctggacgt tgtgggatac
1081 ccgttcatgc cgccatactg gggcctgggc ttccacctgt gccgctgggg ctactcctcc
1141 accgctatca cccgccaggt ggtggagaac atgaccaggg cccacttccc cctggacgtc
1201 caatggaacg acctggacta catggactcc cggagggact tcacgttcaa caaggatggc
1261 ttccgggact tcccggccat ggtgcaggag ctgcaccagg gcggccggcg ctacatgatg
1321 atcgtggatc ctgccatcag cagctcgggc cctgccggga gctacaggct ctacgacgag
1381 ggtctgcgga ggggggtttt catcaccaac gagaccggcc agccgctgat tgggaaggta
1441 tggcccgggt ccactgcctt ccccgacttc accaacccca cagccctggc ctggtgggag
1501 gacatggtgg ctgagttcca tgaccaggtg cccttcgacg gcatgtggat tgacatgaac
1561 gagccttcca acttcatcag aggctctgag gacggctgcc ccaacaatga gctggagaac
1621 ccaccctacg tgcctggggt ggttgggggg accctccagg cggccaccat ctgtgcctcc
1681 agccaccagt ttctctccac acactacaac ctgcacaacc tctacggcct gaccgaagcc
1741 atcgcctccc acagggcgct ggtgaaggct cgggggacac gcccatttgt gatctcccgc
1801 tcgacctttg ctggccacgg ccgatacgcc ggccactgga cgggggacgt gtggagctcc
1861 tgggagcagc tcgcctcctc cgtgccagaa atcctgcagt ttaacctgct gggggtgcct
1921 ctggtcgggg ccgacgtctg cggcttcctg ggcaacacct cagaggagct gtgtgtgcgc
1981 tggacccagc tgggggcctt ctaccccttc atgcggaacc acaacagcct gctcagtctg
2041 ccccaggagc cgtacagctt cagcgagccg gcccagcagg ccatgaggaa ggccctcacc
2101 ctgcgctacg cactcctccc ccacctctac acactgttcc accaggccca cgtcgcgggg
2161 gagaccgtgg cccggcccct cttcctggag ttccccaagg actctagcac ctggactgtg
2221 gaccaccagc tcctgtgggg ggaggccctg ctcatcaccc cagtgctcca ggccgggaag
2281 gccgaagtga ctggctactt ccccttgggc acatggtacg acctgcagac ggtgccaata
2341 gaggcccttg gcagcctccc acccccacct gcagctcccc gtgagccagc catccacagc
2401 gaggggcagt gggtgacgct gccggccccc ctggacacca tcaacgtcca cctccgggct
2461 gggtacatca tccccctgca gggccctggc ctcacaacca cagagtcccg ccagcagccc
2521 atggccctgg ctgtggccct gaccaagggt ggagaggccc gaggggagct gttctgggac
2581 gatggagaga gcctggaagt gctggagcga ggggcctaca cacaggtcat cttcctggcc
2641 aggaataaca cgatcgtgaa tgagctggta cgtgtgacca gtgagggagc tggcctgcag
2701 ctgcagaagg tgactgtcct gggcgtggcc acggcgcccc agcaggtcct ctccaacggt
2761 gtccctgtct ccaacttcac ctacagcccc gacaccaagg tcctggacat ctgtgtctcg
2821 ctgttgatgg gagagcagtt tctcgtcagc tggtgttag
//