LOCUS AF084535 3128 bp mRNA linear HUM 01-OCT-1999
DEFINITION Homo sapiens laforin (EPM2A) mRNA, complete cds.
ACCESSION AF084535
VERSION AF084535.2
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 3128)
AUTHORS Minassian,B.A., Lee,J.R., Herbrick,J.A., Huizenga,J., Soder,S.,
Mungall,A.J., Dunham,I., Gardner,R., Fong,C.Y., Carpenter,S.,
Jardim,L., Satishchandra,P., Andermann,E., Snead,O.C. III,
Lopes-Cendes,I., Tsui,L.C., Delgado-Escueta,A.V., Rouleau,G.A. and
Scherer,S.W.
TITLE Mutations in a gene encoding a novel protein tyrosine phosphatase
cause progressive myoclonus epilepsy
JOURNAL Nat. Genet. 20 (2), 171-174 (1998)
PUBMED 9771710
REFERENCE 2 (bases 1 to 3128)
AUTHORS Lee,J.R. and Scherer,S.W.
TITLE Direct Submission
JOURNAL Submitted (17-AUG-1998) Department of Genetics, The Hospital for
Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada
REFERENCE 3 (bases 1 to 3128)
AUTHORS Minassian,B.
TITLE Direct Submission
JOURNAL Submitted (01-OCT-1999) Department of Genetics, The Hospital for
Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada
REMARK Sequence update by submitter
COMMENT On Oct 1, 1999 this sequence version replaced AF084535.1.
FEATURES Location/Qualifiers
source 1..3128
/db_xref="H-InvDB:HIT000066635"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
gene 1..3128
/gene="EPM2A"
CDS 1..996
/gene="EPM2A"
/codon_start=1
/product="laforin"
/protein_id="AAC83347.2"
/translation="MRFRFGVVVPPAVAGARPELLVVGSRPELGRWEPRGAVRLRPAG
TAAGDGALALQEPGLWLGEVELAAEEAAQDGAEPGRVDTFWYKFLKREPGGELSWEGN
GPHHDRCCTYNENNLVDGVYCLPIGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSRI
LPNIWLGSCPRQVEHVTIKLKHELGITAVMNFQTEWDIVQNSSGCNRYPEPMTPDTMI
KLYREEGLAYIWMPTPDMSTEGRVQMLPQAVCLLHALLEKGHIVYVHCNAGVGRSTAA
VCGWLQYVMGWNLRKVQYFLMAKRPAVYIDEEALARAQEDFFQKFGKVRSSVCSL"
3'UTR 997..3128
/gene="EPM2A"
BASE COUNT 877 a 643 c 763 g 845 t
ORIGIN
1 atgcgcttcc gctttggggt ggtggtgcca cccgccgtgg ccggcgcccg gccggagctg
61 ctggtggtgg ggtcgcggcc cgagctgggg cgttgggagc cgcgcggtgc cgtccgcctg
121 aggccggccg gcaccgcggc gggcgacggg gccctggcgc tgcaggagcc gggcctgtgg
181 ctcggggagg tggagctggc ggccgaggag gcggcgcagg acggggcgga gccgggccgc
241 gtggacacgt tctggtacaa gttcctgaag cgggagccgg gaggagagct ctcctgggaa
301 ggcaatggac ctcatcatga ccgttgctgt acttacaatg aaaacaactt ggtggatggt
361 gtgtattgtc tcccaatagg acactggatt gaggccactg ggcacaccaa tgaaatgaag
421 cacacaacag acttctattt taatattgca ggccaccaag ccatgcatta ttcaagaatt
481 ctaccaaata tctggctggg tagctgccct cgtcaggtgg aacatgtaac catcaaactg
541 aagcatgaat tggggattac agctgtaatg aatttccaga ctgaatggga tattgtacag
601 aattcctcag gctgtaaccg ctacccagag cccatgactc cagacactat gattaaacta
661 tatagggaag aaggcttggc ctacatctgg atgccaacac cagatatgag caccgaaggc
721 cgagtacaga tgctgcccca ggcggtgtgc ctgctgcatg cgctgctgga gaagggacac
781 atcgtgtacg tgcactgcaa cgctggggtg ggccgctcca ccgcggctgt ctgcggctgg
841 ctccagtatg tgatgggctg gaatctgagg aaggtgcagt atttcctcat ggccaagagg
901 ccggctgtct acattgacga agaggccttg gcccgggcac aagaagattt tttccagaaa
961 tttgggaagg ttcgttcttc tgtgtgtagc ctgtagctgg tcagcctgct tctgccccct
1021 cctgatttcc ctaaggagcc tgggatgatg ttggtcaaat gacctagaaa caaggattct
1081 acctgaactg aaaggactgt gtgacctccc caagccaacc actttcacct gggatgactt
1141 tcgattatgc tttggtttgg ggctgtattt ttgaaatact ctacaagaaa gctgtggctc
1201 aacacatgag aagaagcacg aagcagttag gctgtacatc agacagaagg gtaatgcgtg
1261 cagttcctgc tgcctgcagg cagacgaggc ctttgcttta cagcactgta tgtgttgcac
1321 gatggatccg tgacagcact ttcctgttgc actgaaactc ttggccatgt agaggaaaag
1381 atatggagtt atgtggattt catcactagt atgtgtgccg tgagctggtc agttgccaaa
1441 ggaggaaata aggttagaag cctgaaccgt tacaaaagaa gagctcacta tggtcaaaaa
1501 gtgatggctt tcaggacttg ttttttatcc tgcctcacag ttgttaaagt ctgttccaag
1561 gcatcacctt ccttctctac ccaacaaccc tgtgtaacaa ctaaagtaga attatctctc
1621 atttgttggt ggtttttcct caaaattacc aaacaaagca aaaaataccc ttgtttttta
1681 tagttgagat gtcaaggaag ttaaattgag gcttaatgag cataggtagc ttgtccaagg
1741 tctcatgacc agtcaagggc aagctggagt taataatcta tatttatttg actcagcact
1801 gttttcatca caacttgttt tcccagcatc atgtagtgca tttagttttg tctttctcag
1861 ggtatagtca atatgcctgc aggagtttct atagcgagac atagaatagt attctgatca
1921 gttgccaaag aatctaggaa attagttgta ttttgtgcaa gctaatttaa aaacatgatg
1981 ggctgtttta agaccagagt ggaaattcat gagaggaact atactaccaa aagagcccaa
2041 atgaccaaat ccatggataa ttgcttcaca gccttggcca tcctggctca gctctcaatt
2101 tagtataata tgcagttcct gtgcctccag actatgcagc tcatcaccct aggttctaca
2161 ggaaatacag agatgaacaa ctttgccttc aaaaaatgtg ctgcctagaa aacagacctg
2221 catttcaacc caactgtaat gcaggatttg gaccatgaat gatatgctag aatagaagaa
2281 agagaagtgt ttttttaatt gagagcctct atgtgcaagg tgatatataa tcatatccag
2341 tttaatcttc acaatatcca atgaagaagg tctcattatc tccatgataa agatggggaa
2401 actaaggtca gaagggttaa ctcaactgtc tattgtcaca tgatgaataa atagatgaag
2461 tgagatacaa agctgggttt gattcaaagc ccttactttc ctaattaaac tatgatgcgt
2521 atttattttt ctgcaccttc ctttcttcca caaacacata ttgatagatg caagagactc
2581 ttatttataa ggcgtggggg acaagaagga tacaaggtaa gtttcagtgg agctcagagg
2641 acggggagat agaactgtgg cacttagggg agatgacatt tgctttgggc agaggcagct
2701 agccaggaca catttccact ataattttac aaagttaaat ttataagcta gcattaagta
2761 aagtgaagtc cagctccctt gctaaaaata actagaggta ataattggta ttcaggtaac
2821 tcatttacag tcataatgtg ttgtgaaaat ttaatcttaa aaattaaatt tttaaactat
2881 gtgggtctgt gaatttcttt aatgtctaag aaatccagct tcataatttc catgatacaa
2941 agatcttttt tcaggtggat ttttaccttt gttccttttg ctctgataga caaaatcagt
3001 ttaggactat taaagaatgt tttggaataa actgtctttt tcctcaatga atgggatgtc
3061 taatgtattt caaaatcacc caaaactttt ggcaaataaa agcatttaaa aagaaaaaaa
3121 aaaaaaaa
//