LOCUS HSU70323 4481 bp mRNA linear HUM 20-NOV-1996
DEFINITION Human ataxin-2 (SCA2) mRNA, complete cds.
ACCESSION U70323
VERSION U70323.1
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 4481)
AUTHORS Pulst,S.-M., Nechiporuk,A., Nechiporuk,T., Gispert,S., Chen,X.-N.,
Lopes-Cendes,I., Pearlman,S., Starkman,S., Orozco-Diaz,G.,
Lunkes,A., DeJong,P., Rouleau,G.A., Auburger,G., Korenberg,J.R.,
Figueroa,C. and Sahba,S.
TITLE Moderate expansion of a normally biallelic trinucleotide repeat in
spinocerebellar ataxia type 2
JOURNAL Nat. Genet. 14 (3), 269-276 (1996)
PUBMED 8896555
REFERENCE 2 (bases 1 to 4481)
AUTHORS Pulst,S.-M.
TITLE Direct Submission
JOURNAL Submitted (10-SEP-1996) Medicine, Cedars-Sinai, 8700 Beverly Blvd.,
Los Angeles, CA 90048, USA
FEATURES Location/Qualifiers
source 1..4481
/db_xref="H-InvDB:HIT000221109"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q24.1"
gene 1..4481
/gene="SCA2"
CDS 163..4101
/gene="SCA2"
/standard_name="spinocerebellar ataxia type 2"
/codon_start=1
/product="ataxin-2"
/protein_id="AAB19200.1"
/translation="MRSAAAAPRSPAVATESRRFAAARWPGWRSLQRPARRSGRGGGG
AAPGPYPSAAPPPPGPGPPPSRQSSPPSASDCFGSNGNGGGAFRPGSRRLLGLGGPPR
PFVVVLLPLASPGAPPAAPTRASPLGARASPPRSGVSLARPAPGCPRPACEPVYGPLT
MSLKPQQQQQQQQQQQQQQQQQQQQQQPPPAAANVRKPGGSGLLASPAAAPSPSSSSV
SSSSATAPSSVVAATSGGGRPGLGRGRNSNKGLPQSTISFDGIYANMRMVHILTSVVG
SKCEVQVKNGGIYEGVFKTYSPKCDLVLDAAHEKSTESSSGPKREEIMESILFKCSDF
VVVQFKDMDSSYAKRDAFTDSAISAKVNGEHKEKDLEPWDAGELTANEELEALENDVS
NGWDPNDMFRYNEENYGVVSTYDSSLSSYTVPLERDNSEEFLKREARANQLAEEIESS
AQYKARVALENDDRSEEEKYTAVQRNSSEREGHSINTRENKYIPPGQRNREVISWGSG
RQNSPRMGQPGSGSMPSRSTSHTSDFNPNSGSDQRVVNGGVPWPSPCPSPSSRPPSRY
QSGPNSLPPRAATPTRPPSRPPSRPSRPPSHPSAHGSPAPVSTMPKRMSSEGPPRMSP
KAQRHPRNHRVSAGRGSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRL
SPKTHRPRSPRQNSIGNTPSGPVLASPQAGIIPTEAVAMPIPAASPTPASPASNRAVT
PSSEAKDSRLQDQRQNSPAGNKENIKPNETSPSFSKAENKGISPVVSEHRKQIDDLKK
FKNDFRLQPSSTSESMDQLLNKNREGEKSRDLIKDKIEPSAKDSFIENSSSNCTSGSS
KPNSPSISPSILSNTEHKRGPEVTSQGVQTSSPACKQEKDDKEEKKDAAEQVRKSTLN
PNAKEFNPRSFSQPKPSTTPTSPRPQAQPSPSMVGHQQPTPVYTQPVCFAPNMMYPVP
VSPGVQPLYPIPMTPMPVNQAKTYRAVPNMPQQRQDQHHQSAMMHPASAAGPPIAATP
PAYSTQYVAYSPQQFPNQPLVQHVPHYQSQHPHVYSPVIQGNARMMAPPTHAQPGLVS
SSATQYGAHEQTHAMYACPKLPYNKETSPSFYFAISTGSLAQQYAHPNATLHPHTPHP
QPSATPTGQQQSQHGGSHPAPSPVQHHQHQAAQALHLASPQQQSAIYHAGLAPTPPSM
TPASNTQSPQNSFPAAQQTVFTIHPSHVQPAYTNPPHMAHVPQAHVQSGMVPSHPTAH
APMMLMTTQPPGGPQAALAQSALQPIPVSTTAHFPYMTHPSVQAHHQQQL"
BASE COUNT 1144 a 1380 c 1014 g 943 t
ORIGIN
1 acccccgaga aagcaaccca gcgcgccgcc cgctcctcac gtgtccctcc cggccccggg
61 gccacctcac gttctgcttc cgtctgaccc ctccgacttc cggtaaagag tccctatccg
121 cacctccgct cccacccggc gcctcggcgc gcccgccctc cgatgcgctc agcggccgca
181 gctcctcgga gtcccgcggt ggccaccgag tctcgccgct tcgccgcagc caggtggccc
241 gggtggcgct cgctccagcg gccggcgcgg cggagcgggc ggggcggcgg tggcgcggcc
301 ccgggaccgt atccctccgc cgcccctccc ccgcccggcc ccggcccccc tccctcccgg
361 cagagctcgc ctccctccgc ctcagactgt tttggtagca acggcaacgg cggcggcgcg
421 tttcggcccg gctcccggcg gctccttggt ctcggcgggc ctccccgccc cttcgtcgtc
481 gtccttctcc ccctcgccag cccgggcgcc cctccggccg cgccaacccg cgcctccccg
541 ctcggcgccc gtgcgtcccc gccgcgttcc ggcgtctcct tggcgcgccc ggctcccggc
601 tgtccccgcc cggcgtgcga gccggtgtat gggcccctca ccatgtcgct gaagccccag
661 cagcagcagc agcagcagca gcaacagcag cagcagcaac agcagcagca gcagcagcag
721 cagccgccgc ccgcggctgc caatgtccgc aagcccggcg gcagcggcct tctagcgtcg
781 cccgccgccg cgccttcgcc gtcctcgtcc tcggtctcct cgtcctcggc cacggctccc
841 tcctcggtgg tcgcggcgac ctccggcggc gggaggcccg gcctgggcag aggtcgaaac
901 agtaacaaag gactgcctca gtctacgatt tcttttgatg gaatctatgc aaatatgagg
961 atggttcata tacttacatc agttgttggc tccaaatgtg aagtacaagt gaaaaatgga
1021 ggtatatatg aaggagtttt taaaacttac agtccgaagt gtgatttggt acttgatgcc
1081 gcacatgaga aaagtacaga atccagttcg gggccgaaac gtgaagaaat aatggagagt
1141 attttgttca aatgttcaga ctttgttgtg gtacagttta aagatatgga ctccagttat
1201 gcaaaaagag atgcttttac tgactctgct atcagtgcta aagtgaatgg cgaacacaaa
1261 gagaaggacc tggagccctg ggatgcaggt gaactcacag ccaatgagga acttgaggct
1321 ttggaaaatg acgtatctaa tggatgggat cccaatgata tgtttcgata taatgaagaa
1381 aattatggtg tagtgtctac gtatgatagc agtttatctt cgtatacagt gcccttagaa
1441 agagataact cagaagaatt tttaaaacgg gaagcaaggg caaaccagtt agcagaagaa
1501 attgagtcaa gtgcccagta caaagctcga gtggccctgg aaaatgatga taggagtgag
1561 gaagaaaaat acacagcagt tcagagaaat tccagtgaac gtgaggggca cagcataaac
1621 actagggaaa ataaatatat tcctcctgga caaagaaata gagaagtcat atcctgggga
1681 agtgggagac agaattcacc gcgtatgggc cagcctggat cgggctccat gccatcaaga
1741 tccacttctc acacttcaga tttcaacccg aattctggtt cagaccaaag agtagttaat
1801 ggaggtgttc cctggccatc gccttgccca tctccttcct ctcgcccacc ttctcgctac
1861 cagtcaggtc ccaactctct tccacctcgg gcagccaccc ctacacggcc gccctccagg
1921 cccccctcgc ggccatccag acccccgtct cacccctctg ctcatggttc tccagctcct
1981 gtctctacta tgcctaaacg catgtcttca gaagggcctc caaggatgtc cccaaaggcc
2041 cagcgacatc ctcgaaatca cagagtttct gctgggaggg gttccatatc cagtggccta
2101 gaatttgtat cccacaaccc acccagtgaa gcagctactc ctccagtagc aaggaccagt
2161 ccctcggggg gaacgtggtc atcagtggtc agtggggttc caagattatc ccctaaaact
2221 catagaccca ggtctcccag acagaacagt attggaaata cccccagtgg gccagttctt
2281 gcttctcccc aagctggtat tattccaact gaagctgttg ccatgcctat tccagctgca
2341 tctcctacgc ctgctagtcc tgcatcgaac agagctgtta ccccttctag tgaggctaaa
2401 gattccaggc ttcaagatca gaggcagaac tctcctgcag ggaataaaga aaatattaaa
2461 cccaatgaaa catcacctag cttctcaaaa gctgaaaaca aaggtatatc accagttgtt
2521 tctgaacata gaaaacagat tgatgattta aagaaattta agaatgattt taggttacag
2581 ccaagttcta cttctgaatc tatggatcaa ctactaaaca aaaatagaga gggagaaaaa
2641 tcaagagatt tgatcaaaga caaaattgaa ccaagtgcta aggattcttt cattgaaaat
2701 agcagcagca actgtaccag tggcagcagc aagccgaata gccccagcat ttccccttca
2761 atacttagta acacggagca caagagggga cctgaggtca cttcccaagg ggttcagact
2821 tccagcccag catgtaaaca agagaaagac gataaggaag agaagaaaga cgcagctgag
2881 caagttagga aatcaacatt gaatcccaat gcaaaggagt tcaacccacg ttccttctct
2941 cagccaaagc cttctactac cccaacttca cctcggcctc aagcacaacc tagcccatct
3001 atggtgggtc atcaacagcc aactccagtt tatactcagc ctgtttgttt tgcaccaaat
3061 atgatgtatc cagtcccagt gagcccaggc gtgcaacctt tatacccaat acctatgacg
3121 cccatgccag tgaatcaagc caagacatat agagcagtac caaatatgcc ccaacagcgg
3181 caagaccagc atcatcagag tgccatgatg cacccagcgt cagcagcggg cccaccgatt
3241 gcagccaccc caccagctta ctccacgcaa tatgttgcct acagtcctca gcagttccca
3301 aatcagcccc ttgttcagca tgtgccacat tatcagtctc agcatcctca tgtctatagt
3361 cctgtaatac agggtaatgc tagaatgatg gcaccaccaa cacacgccca gcctggttta
3421 gtatcttctt cagcaactca gtacggggct catgagcaga cgcatgcgat gtatgcatgt
3481 cccaaattac catacaacaa ggagacaagc ccttctttct actttgccat ttccacgggc
3541 tcccttgctc agcagtatgc gcaccctaac gctaccctgc acccacatac tccacaccct
3601 cagccttcag ctacccccac tggacagcag caaagccaac atggtggaag tcatcctgca
3661 cccagtcctg ttcagcacca tcagcaccag gccgcccagg ctctccatct ggccagtcca
3721 cagcagcagt cagccattta ccacgcgggg cttgcgccaa ctccaccctc catgacacct
3781 gcctccaaca cgcagtcgcc acagaatagt ttcccagcag cacaacagac tgtctttacg
3841 atccatcctt ctcacgttca gccggcgtat accaacccac cccacatggc ccacgtacct
3901 caggctcatg tacagtcagg aatggttcct tctcatccaa ctgcccatgc gccaatgatg
3961 ctaatgacga cacagccacc cggcggtccc caggccgccc tcgctcaaag tgcactacag
4021 cccattccag tctcgacaac agcgcatttc ccctatatga cgcacccttc agtacaagcc
4081 caccaccaac agcagttgta aggctgccct ggaggaaccg aaaggccaaa ttccctcctc
4141 ccttctactg cttctaccaa ctggaagcac agaaaactag aatttcattt attttgtttt
4201 taaaatatat atgttgattt cttgtaacat ccaataggaa tgctaacagt tcacttgcag
4261 tggaagatac ttggaccgag tagaggcatt taggaacttg ggggctattc cataattcca
4321 tatgctgttt cagagtcccg caggtacccc agctctgctt gccgaaactg gaagttattt
4381 attttttaat aacccttgaa agtcatgaac acatcagcta gcaaaagaag taacaagagt
4441 gattcttgct gctattactg ctaaaaaaaa aaaaaaaaaa a
//