LOCUS AF017456 3487 bp mRNA linear HUM 09-OCT-1997
DEFINITION Homo sapiens lysosomal pepstatin insensitive protease (CLN2) mRNA,
complete cds.
ACCESSION AF017456
VERSION AF017456.1
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 3487)
AUTHORS Sleat,D.E., Donnelly,R.J., Lackland,H., Liu,C.G., Sohar,I.,
Pullarkat,R.K. and Lobel,P.
TITLE Association of mutations in a lysosomal protein with classical
late-infantile neuronal ceroid lipofuscinosis
JOURNAL Science 277 (5333), 1802-1805 (1997)
PUBMED 9295267
REFERENCE 2 (bases 1 to 3487)
AUTHORS Sleat,D.E., Donnelly,R.J., Lackland,H., Liu,C.-G., Sohar,I.,
Pullarkat,R. and Lobel,P.
TITLE Direct Submission
JOURNAL Submitted (07-AUG-1997) CABM, UMDNJ, 679 Hoes Lane, Piscataway, NJ
08854, USA
FEATURES Location/Qualifiers
source 1..3487
/db_xref="H-InvDB:HIT000062428"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11p15"
gene 1..3487
/gene="CLN2"
5'UTR 1..14
/gene="CLN2"
CDS 15..1706
/gene="CLN2"
/note="deficient in late infantile neuronal ceroid
lipofuscinosis; similar to prokaryotic pepstatin
insensitive carboxyl proteases"
/codon_start=1
/product="lysosomal pepstatin insensitive protease"
/protein_id="AAB80725.1"
/translation="MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPE
EELSLTFALRQQNVERLSELVQAVSDPSSPQYGKYLTLENVADLVRPSPLTLHTVQKW
LLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHVVRSPHPYQLP
QALAPHVDFVGGLHHFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYNLTSQDVGS
GTSNNSQACAQFLEQYFHDSDLAQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLD
VQYLMSAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHVHTVSYGDDEDSLSS
AYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTS
FQEPFLITNEIVDYISGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYP
DVAALSDGYWVVSNRVPIPWVSGTSASTPVFGGILSLINEHRILSGRPPLGFLNPRLY
QQHGAGLFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTLLNP"
sig_peptide 15..62
/gene="CLN2"
misc_feature 642..644
/gene="CLN2"
/inference="non-experimental evidence, no additional
details recorded"
/note="glycosylation site"
misc_feature 678..701
/gene="CLN2"
/inference="non-experimental evidence, no additional
details recorded"
/note="glycosylation site"
misc_feature 870..872
/gene="CLN2"
/inference="non-experimental evidence, no additional
details recorded"
/note="glycosylation site"
misc_feature 951..953
/gene="CLN2"
/inference="non-experimental evidence, no additional
details recorded"
/note="glycosylation site"
misc_feature 1341..1343
/gene="CLN2"
/inference="non-experimental evidence, no additional
details recorded"
/note="glycosylation site"
variation 538
/gene="CLN2"
/note="A to G polymorphism (His to Arg)"
/replace="g"
variation 636
/gene="CLN2"
/note="C to T transition (Arg to stop)"
/replace="t"
variation 1058
/gene="CLN2"
/note="T to C polymorphism (silent)"
/replace="c"
variation 1107
/gene="CLN2"
/note="T to C transition (Cys to Arg)"
/replace="c"
variation 1108
/gene="CLN2"
/note="G to A transition (Cys to Tyr)"
/replace="a"
3'UTR 1707..3487
/gene="CLN2"
variation 2824
/gene="CLN2"
/note="G to C polymorphism"
/replace="c"
BASE COUNT 787 a 1023 c 734 g 943 t
ORIGIN
1 cgcggaaggg cagaatggga ctccaagcct gcctcctagg gctctttgcc ctcatcctct
61 ctggcaaatg cagttacagc ccggagcccg accagcggag gacgctgccc ccaggctggg
121 tgtccctggg ccgtgcggac cctgaggaag agctgagtct cacctttgcc ctgagacagc
181 agaatgtgga aagactctcg gagctggtgc aggctgtgtc ggatcccagc tctcctcaat
241 acggaaaata cctgacccta gagaatgtgg ctgatctggt gaggccatcc ccactgaccc
301 tccacacggt gcaaaaatgg ctcttggcag ccggagccca gaagtgccat tctgtgatca
361 cacaggactt tctgacttgc tggctgagca tccgacaagc agagctgctg ctccctgggg
421 ctgagtttca tcactatgtg ggaggaccta cggaaaccca tgttgtaagg tccccacatc
481 cctaccagct tccacaggcc ttggcccccc atgtggactt tgtgggggga ctgcaccatt
541 ttcccccaac atcatccctg aggcaacgtc ctgagccgca ggtgacaggg actgtaggcc
601 tgcatctggg ggtaaccccc tctgtgatcc gtaagcgata caacttgacc tcacaagacg
661 tgggctctgg caccagcaat aacagccaag cctgtgccca gttcctggag cagtatttcc
721 atgactcaga cctggctcag ttcatgcgcc tcttcggtgg caactttgca catcaggcat
781 cagtagcccg tgtggttgga caacagggcc ggggccgggc cgggattgag gccagtctag
841 atgtgcagta cctgatgagt gctggtgcca acatctccac ctgggtctac agtagccctg
901 gccggcatga gggacaggag cccttcctgc agtggctcat gctgctcagt aatgagtcag
961 ccctgccaca tgtgcatact gtgagctatg gagatgatga ggactccctc agcagcgcct
1021 acatccagcg ggtcaacact gagctcatga aggctgctgc tcggggtctc accctgctct
1081 tcgcctcagg tgacagtggg gccgggtgtt ggtctgtctc tggaagacac cagttccgcc
1141 ctaccttccc tgcctccagc ccctatgtca ccacagtggg aggcacatcc ttccaggaac
1201 ctttcctcat cacaaatgaa attgttgact atatcagtgg tggtggcttc agcaatgtgt
1261 tcccacggcc ttcataccag gaggaagctg taacgaagtt cctgagctct agcccccacc
1321 tgccaccatc cagttacttc aatgccagtg gccgtgccta cccagatgtg gctgcacttt
1381 ctgatggcta ctgggtggtc agcaacagag tgcccattcc atgggtgtcc ggaacctcgg
1441 cctctactcc agtgtttggg gggatcctat ccttgatcaa tgagcacagg atccttagtg
1501 gccgcccccc tcttggcttt ctcaacccaa ggctctacca gcagcatggg gcaggactct
1561 ttgatgtaac ccgtggctgc catgagtcct gtctggatga agaggtagag ggccagggtt
1621 tctgctctgg tcctggctgg gatcctgtaa caggctgggg aacacccaac ttcccagctt
1681 tgctgaagac tctactcaac ccctgaccct ttcctatcag gagagatggc ttgtcccctg
1741 ccctgaagct ggcagttcag tcccttattc tgccctgttg gaagccctgc tgaaccctca
1801 actattgact gctgcagaca gcttatctcc ctaaccctga aatgctgtga gcttgacttg
1861 actcccaacc ctaccatgct ccatcatact caggtctccc tactcctgcc ttagattcct
1921 caataagatg ctgtaactag cattttttga atgcctctcc ctccgcatct catctttctc
1981 ttttcaatca ggcttttcca aagggttgta tacagactct gtgcactatt tcacttgata
2041 ttcattcccc aattcactgc aaggagacct ctactgtcac cgtttactct ttcctaccct
2101 gacatccaga aacaatggcc tccagtgcat acttctcaat ctttgcttta tggcctttcc
2161 atcatagttg cccactccct ctccttactt agcttccagg tcttaacttc tctgactact
2221 cttgtcttcc tctctcatca atttctgctt cttcatggaa tgctgacctt cattgctcca
2281 tttgtagatt tttgctcttc tcagtttact cattgtcccc tggaacaaat cactgacatc
2341 tacaaccatt accatctcac taaataagac tttctatcca ataatgattg atacctcaaa
2401 tgtaagatgc gtgatactca acatttcatc gtccaccttc ccaaccccaa acaattccat
2461 ctcgtttctt cttggtaaat gatgctatgc tttttccaac caagccagaa acctgtgtca
2521 tcttttcacc ccaccttcaa tcaacaagtc ctcaatcaac aagtcctact gactgcacat
2581 cttaaatata tctttatcag tccacaagtc cttccaatta tatttcccaa gtatatctag
2641 aacttatcca cttatatccc cactgctact accttagttt agggctatat tctcttgaaa
2701 aaaagtgtcc ttacttcctg ccaatcccca agtcatcttc cagagtaaaa tgcaaatccc
2761 atcaggccac ttggatgaaa acccttcaag gattactgga tagaattcag gctttcccct
2821 ccagccccca atcatagctc acaaaccttc cttgctattt gttcttaagt aaaaaatcat
2881 ttttcctcct ccctccccaa accccaagga actctcactc ttgctcaagc tgttccgtcc
2941 ccttaccacc cctgatacaa ctgccaggtt aatttccaga attcttgcaa gactcagttc
3001 agaagtcacc ttctttcgtg aatgttttga ttccctgagg ctactttatt ttggtatggc
3061 tgaaaaatcc tagattttct aaacaaaacc tgtttgaatc ttggttctga tatggactag
3121 gagagagact gggtcaagta agcttatctc cctgaggctg tttcctcgtc tgttaagtgt
3181 gaatatcaat acctgccttt cataatcacc agggaataaa gtggaataat gttgataaca
3241 gtgcttggca cctggaagta ggtggcagat gttaacgccc ttcctccctt gcactgcgcc
3301 ccctgtgcct acctctagca ttgtaacgac cacatagtat tgaaatggcc agtttacttg
3361 tctgccttcc tttccaagac cgttggtgcc tagaggacta gaatcgtgtc ctatttaact
3421 ttgtgttccc aggtcctagc tcaggagttg gcaaataaga attaaatgtc tgctacaccg
3481 aaacaaa
//