LOCUS AAB19200.1 1312 aa PRT HUM 20-NOV-1996 DEFINITION Homo sapiens ataxin-2 protein. ACCESSION U70323-1 PROTEIN_ID AAB19200.1 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 Qualifiers source /db_xref="H-InvDB:HIT000221109" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="12" /map="12q24.1" protein /gene="SCA2" /standard_name="spinocerebellar ataxia type 2" BEGIN 1 MRSAAAAPRS PAVATESRRF AAARWPGWRS LQRPARRSGR GGGGAAPGPY PSAAPPPPGP 61 GPPPSRQSSP PSASDCFGSN GNGGGAFRPG SRRLLGLGGP PRPFVVVLLP LASPGAPPAA 121 PTRASPLGAR ASPPRSGVSL ARPAPGCPRP ACEPVYGPLT MSLKPQQQQQ QQQQQQQQQQ 181 QQQQQQQPPP AAANVRKPGG SGLLASPAAA PSPSSSSVSS SSATAPSSVV AATSGGGRPG 241 LGRGRNSNKG LPQSTISFDG IYANMRMVHI LTSVVGSKCE VQVKNGGIYE GVFKTYSPKC 301 DLVLDAAHEK STESSSGPKR EEIMESILFK CSDFVVVQFK DMDSSYAKRD AFTDSAISAK 361 VNGEHKEKDL EPWDAGELTA NEELEALEND VSNGWDPNDM FRYNEENYGV VSTYDSSLSS 421 YTVPLERDNS EEFLKREARA NQLAEEIESS AQYKARVALE NDDRSEEEKY TAVQRNSSER 481 EGHSINTREN KYIPPGQRNR EVISWGSGRQ NSPRMGQPGS GSMPSRSTSH TSDFNPNSGS 541 DQRVVNGGVP WPSPCPSPSS RPPSRYQSGP NSLPPRAATP TRPPSRPPSR PSRPPSHPSA 601 HGSPAPVSTM PKRMSSEGPP RMSPKAQRHP RNHRVSAGRG SISSGLEFVS HNPPSEAATP 661 PVARTSPSGG TWSSVVSGVP RLSPKTHRPR SPRQNSIGNT PSGPVLASPQ AGIIPTEAVA 721 MPIPAASPTP ASPASNRAVT PSSEAKDSRL QDQRQNSPAG NKENIKPNET SPSFSKAENK 781 GISPVVSEHR KQIDDLKKFK NDFRLQPSST SESMDQLLNK NREGEKSRDL IKDKIEPSAK 841 DSFIENSSSN CTSGSSKPNS PSISPSILSN TEHKRGPEVT SQGVQTSSPA CKQEKDDKEE 901 KKDAAEQVRK STLNPNAKEF NPRSFSQPKP STTPTSPRPQ AQPSPSMVGH QQPTPVYTQP 961 VCFAPNMMYP VPVSPGVQPL YPIPMTPMPV NQAKTYRAVP NMPQQRQDQH HQSAMMHPAS 1021 AAGPPIAATP PAYSTQYVAY SPQQFPNQPL VQHVPHYQSQ HPHVYSPVIQ GNARMMAPPT 1081 HAQPGLVSSS ATQYGAHEQT HAMYACPKLP YNKETSPSFY FAISTGSLAQ QYAHPNATLH 1141 PHTPHPQPSA TPTGQQQSQH GGSHPAPSPV QHHQHQAAQA LHLASPQQQS AIYHAGLAPT 1201 PPSMTPASNT QSPQNSFPAA QQTVFTIHPS HVQPAYTNPP HMAHVPQAHV QSGMVPSHPT 1261 AHAPMMLMTT QPPGGPQAAL AQSALQPIPV STTAHFPYMT HPSVQAHHQQ QL //