LOCUS AF055580 6332 bp mRNA linear HUM 21-MAR-2002
DEFINITION Homo sapiens Usher syndrome type IIa protein (USH2A) mRNA, complete
cds.
ACCESSION AF055580
VERSION AF055580.2
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 6332)
AUTHORS Eudy,J.D., Weston,M.D., Yao,S.F., Hoover,D.M., Rehm,H.L., Ahmad,I.,
Ma-Edmonds,M., Yan,D., Cheng,J.J., Beisel,K.W., Ayuso,C.,
Cremers,C., Davenport,S., Moller,C., Talmadge,C.B., Tamayo,M.,
Swaroop,A., Morton,C.C., Kimberling,W.J. and Sumegi,J.
TITLE Mutation of a gene encoding a protein with extracellular matrix
motifs in Usher syndrome type IIa
JOURNAL Science 280 (5370), 1753-1757 (1998)
PUBMED 9624053
REFERENCE 2 (bases 1 to 6332)
AUTHORS Eudy,J.D., Yao,S.F., Cheng,J.J., Weston,M.D. and Sumegi,J.
TITLE Direct Submission
JOURNAL Submitted (24-MAR-1998) Pathology/Microbiology, University of
Nebraska-Medical Center, 600 South 42nd Street, Omaha, NE
68198-5660, USA
REFERENCE 3 (bases 1 to 6332)
AUTHORS Eudy,J.D., Yao,S.F., Cheng,J.J., Weston,M.D. and Sumegi,J.
TITLE Direct Submission
JOURNAL Submitted (21-MAR-2002) Pathology/Microbiology, University of
Nebraska-Medical Center, 600 South 42nd Street, Omaha, NE
68198-5660, USA
REMARK Sequence update by submitter
COMMENT On Mar 21, 2002 this sequence version replaced AF055580.1.
FEATURES Location/Qualifiers
source 1..6332
/db_xref="H-InvDB:HIT000064662"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q41; between AFM268ZD1 and AFM144XF2"
gene 1..6332
/gene="USH2A"
CDS 388..5028
/gene="USH2A"
/note="putative extracellular matrix component or cell
adhesion molecule"
/codon_start=1
/product="Usher syndrome type IIa protein"
/protein_id="AAC23748.2"
/translation="MNCPVLSLGSGFLFQVIEMLIFAYFASISLTESRGLFPRLENVG
AFKKVSIVPTQAVCGLPDRSTFCHSSAAAESIQFCTQRFCIQDCPYRSSHPTYTALFS
AGLSSCITPDKNDLHPNAHSNSASFIFGNHKSCFSSPPSPKLMASFTLAVWLKPEQQG
VMCVIEKTVDGQIVFKLTISEKETMFYYRTVNGLQPPIKVMTLGRILVKKWIHLSVQV
HQTKISFFINGVEKDHTPFNARTLSGSITDFASGTVQIGQSLNGLEQFVGRMQDFRLY
QVALTNREILEVFSGDLLRLHAQSHCRCPGSHPRVHPLAQRYCIPNDAGDTADNRVSR
LNPEAHPLSFVNDNDVGTSWVSNVFTNITQLNQGVTISVDLENGQYQVFYIIIQFFSP
QPTEIRIQRKKENSLDWEDWQYFARNCGAFGMKNNGDLEKPDSVNCLQLSNFTPYSRG
NVTFSILTPGPNYRPGYNNFYNTPSLQESVKATQIRFHFHGQYYTTETAVNLRHRYYA
VDEITISGRCQCHGHADNCDTTSQPYRCLCSQESFTEGLHCDRCLPLYNDKPFRQGDQ
VYAFNCKPCQCNSHSKSCHYNISVDPFPFEHFRGGGGVCDDCEHNTTGRNCELCKDYF
FRQVGADPSAIDVCKPCDCDTVGTRNGSILCDQIGGQCNCKRHVSGRQCNQCQNGFYN
LQELDPDGCSPCNCNTSGTVDGDITCHQNSGQCKCKANVIGLRCDHCNFGFKFLRSFN
DVGCEPCQCNLHGSVNKFCNPHSGQCECKKEAKGLQCDTCRENFYGLDVTNCKACDCD
TAGSLPGTVCNAKTGQCICKPNVEGRQCNKCLEGNFYLRQNNSFLCLPCNCDKTGTIN
GSLLCNKSTGQCPCKLGVTGLRCNQCEPHRYNLTIDNFQHCQMCECDSLGTLPGTICD
PISGQCLCVPNRQGRRCNQCQPGFYISPGNATGCLPCSCHTTGAVNHICNSLTGQCVC
QDASIAGQRCDQCKDHYFGFDPQTGRCQPCNCHLSGALNETCHLVTGQCFCKQFVTGS
KCDACVPSASHLDVNNLLGCSKTPFQQPPPRGQVQSSSAINLSWSPPDSPNAHWLTYS
LLRDGFEIYTTEDQYPYSIQYFLDTDLLPYTKYSYYIETTNVHGSTRSVAVTYKTKPG
VPEGNLTLSYIIPIGSDSVTLTWTTLSNQSGPIEKYILSCAPLAGGQPCVSYEGHETS
ATIWNLVPFAKYDFSVQACTSGGCLHSLPITVTTAQAPPQRLSPPKMQKISSTELHVE
WSPPAELNGIIIRYELYMRRLRSTKETTSEESRVFQSSGWLSPHSFVESANENALKPP
QTMTTITGLEPYTKYEFRVLAVNMAGSVSSAWVSERTGESAPVFMIPPSVFPLSSYSL
NISWEKPADNVTRGKVVGYDINMLSEQSPQQSIPMAFSQLLHTAKSQELSYTVEGLKP
YRIYEFTITLCNSVGCVTSASGAGQTLAAAPAQLRPPLVKGINSTTIHLKWFPPEELN
GPSPIYQLERRESSLPALMTTMMKGIRFIGNGYCKFPSSTHPVNTDFTGKCV"
misc_feature 1270..3522
/gene="USH2A"
/note="encodes laminin epidermal growth factor repeats"
misc_feature 3640..4872
/gene="USH2A"
/note="encodes fibronectin type III repeats"
BASE COUNT 1847 a 1336 c 1294 g 1854 t
ORIGIN
1 tgtttgctct gcagaatact ttacctgggc acccaagtct tccttccagc attcctgctg
61 ctacagccta tttgctgagt aaccaggggt tacagcagcg ttgccaggca acgagggaca
121 gcggtcctgt tgaagagcca tttgtcacac tgaggggact ggttgaaatg caataaagaa
181 atgataccag cagctactca tgtcttcgcc attgctaaga acgtcgttgg tattacctta
241 ctctgagaac gtgtctgcag tttccagaaa atggagtatc gcaacatcac ttaaagtacc
301 ctgcttcaaa gtattgctgg caagtggcgt gggcctgatt atttatttag aaatgcttta
361 tcaggaggag aatgcttttt tgtaaacatg aattgcccag ttctttcatt gggctctggc
421 ttcttgtttc aggtcattga aatgttgatc tttgcctatt ttgcttcaat atccttgact
481 gagtcacgag gtcttttccc aaggctggag aacgtgggag ctttcaagaa agtttccatc
541 gtgccaaccc aagcagtatg tggactccca gaccgaagca ctttttgtca cagctctgct
601 gctgctgaaa gtattcagtt ctgtacccag cggttttgta ttcaggattg cccatacaga
661 tcttcacacc ctacctacac tgcccttttc tcagcaggcc tcagtagctg catcacacca
721 gacaagaatg atctgcatcc taacgcccat agcaattctg caagttttat ttttggaaat
781 cacaagagct gcttttcttc tcctccttct ccaaagctga tggcatcatt taccttagct
841 gtatggctga aacctgagca acaaggtgta atgtgtgtta tagaaaagac rgtagatggg
901 cagattgtgt tcaaacttac aatatctgag aaagagacca tgttttatta tcgcacagta
961 aatggtttgc aacctccaat aaaagtaatg acactgggga gaattcttgt gaagaaatgg
1021 attcatctta gtgtgcaggt gcatcagaca aaaatcagct tctttatcaa tggcgtggag
1081 aaggatcata cacctttcaa tgcaagaact ctaagtggtt caattacaga ttttgcatct
1141 ggtactgtgc aaataggaca gagtttaaat ggtttagagc agtttgtcgg aagaatgcaa
1201 gattttcgat tataccaagt ggcacttaca aacagagaga ttctggaagt cttctctgga
1261 gatcttctca gattgcatgc ccaatcacat tgccgttgcc ctggcagcca cccgcgggtc
1321 caccctttgg cacagcggta ctgcattcct aatgatgcag gagacacagc tgataataga
1381 gtgtcacggt tgaatcctga agcccatcct ctctcttttg tcaatgataa tgatgttggt
1441 acttcatggg tttcaaatgt gtttacaaac attacacagc ttaatcaagg agtgactatt
1501 tcagttgatt tggaaaatgg acagtatcag gtgttttata ttatcattca gttctttagt
1561 ccacaaccaa cggaaataag gattcaaagg aagaaggaaa atagtttaga ttgggaggac
1621 tggcaatatt ttgccaggaa ttgtggtgct tttggaatga aaaacaatgg agatttggaa
1681 aaacctgatt ctgtcaactg tcttcagctt tccaatttta ctccatattc ccgtggcaat
1741 gtcacattta gcatcctgac acctggacca aattatcgtc ctggatacaa taacttctat
1801 aataccccat ctcttcaaga gtccgtaaaa gccacgcaaa taaggtttca ttttcatggg
1861 cagtactata caactgagac tgctgttaac ctcagacaca gatattatgc agtggacgaa
1921 atcaccatta gtgggagatg tcagtgccat ggtcatgccg ataactgcga cacaacaagc
1981 cagccatata gatgcctctg ctcccaggag agcttcactg aaggacttca ttgtgatcgc
2041 tgcttgcctc tttataatga caagcctttc cgccaaggtg atcaagttta cgctttcaat
2101 tgtaaacctt gtcaatgcaa cagccattcc aaaagctgcc attacaacat ctctgtagac
2161 ccatttcctt ttgagcactt cagaggggga ggaggagttt gtgatgattg tgagcataac
2221 actacaggaa ggaactgtga gctgtgcaag gattactttt tccgacaagt tggtgcagat
2281 ccttcggcca tagatgtttg caaaccctgt gactgtgata cagttggcac tagaaatggt
2341 agcattcttt gtgatcagat tggaggacag tgtaattgta agagacacgt gtctggcagg
2401 cagtgcaatc agtgccagaa tggattctac aatctacaag agttggatcc tgatggctgc
2461 agtccctgta actgcaatac ctctgggaca gtggatggag atattacctg tcaccaaaat
2521 tcaggccagt gcaagtgcaa agcaaacgtt attgggctta ggtgtgatca ttgcaatttt
2581 ggatttaaat ttctccgaag ctttaatgat gttggatgtg agccctgcca gtgtaacctc
2641 catggctcag tgaacaaatt ctgcaatcct cactctgggc agtgtgagtg caaaaaagaa
2701 gccaaaggac ttcagtgtga cacctgcaga gaaaactttt atgggttaga tgtcaccaat
2761 tgtaaggcct gtgactgtga cacagctgga tccctccctg ggactgtctg taatgctaag
2821 acagggcagt gcatctgcaa gcccaatgtt gaagggagac agtgcaataa atgtttggag
2881 ggaaacttct acctacggca aaataattct ttcctctgtc tgccttgcaa ctgtgataag
2941 actgggacaa taaatggctc tctgctgtgt aacaaatcaa caggacaatg tccttgcaaa
3001 ttaggggtaa caggtcttcg ctgtaatcag tgtgagcctc acaggtacaa tttgaccatt
3061 gacaattttc aacactgcca gatgtgtgag tgtgattcct tggggacatt acctgggacc
3121 atttgtgacc caatcagtgg ccagtgcctg tgtgtgccta atcgtcaagg aagaaggtgt
3181 aatcagtgtc aaccaggttt ttatatttct ccaggcaatg ccactggctg cctgccatgc
3241 tcatgccata caactggcgc agttaatcac atctgtaata gcctgactgg tcagtgtgtt
3301 tgccaagatg cttccattgc tgggcaacgt tgtgaccaat gcaaagacca ttactttgga
3361 tttgatcctc agactggaag atgtcagcct tgtaattgtc atctctcagg agccttgaat
3421 gaaacctgtc acttggtcac aggccagtgt ttctgtaaac aatttgtcac tggctcaaag
3481 tgtgatgctt gtgttcccag tgcaagccac ttggatgtca acaatctatt gggttgcagc
3541 aaaactccat tccagcaacc tccgcccaga ggacaagttc aaagttcttc tgctatcaat
3601 ctctcctgga gtccacctga ttctccaaat gcccactggc ttacttacag tttactcagg
3661 gatggttttg aaatctacac aacagaggat caatacccat acagtattca atacttctta
3721 gacacagacc tgttaccata taccaaatat tcctattaca ttgagaccac caatgtgcat
3781 ggttcaacaa ggagtgtagc tgtcacttac aagacaaaac caggggtccc agagggaaac
3841 ttgactttaa gttatatcat tcctattggc tcagactctg tgacacttac ctggacaaca
3901 ctctcaaatc aatctggtcc catagagaaa tatattttgt cctgtgcccc tttggctggt
3961 ggtcagccat gtgtttccta cgaaggtcat gaaacctcag ctaccatctg gaatctggtt
4021 ccatttgcca agtacgattt ttctgtacag gcgtgtacta gcgggggctg tttacacagc
4081 ttgcccatta cagtgaccac agcccaggcc cctccccaaa gactaagtcc acctaagatg
4141 cagaaaatca gttctacaga acttcatgta gaatggtctc caccagcgga actaaatgga
4201 ataattataa gatatgaact atacatgaga agactgagat ctactaaaga aaccacatct
4261 gaggaaagtc gagtttttca gagcagtggt tggctcagtc ctcattcatt tgtagaatcg
4321 gccaatgaaa atgcattaaa acctcctcaa acaatgacaa ccatcactgg cttggagcca
4381 tacaccaagt atgagttcag agtcttagct gtgaatatgg ctggaagtgt gtcttctgcc
4441 tgggtctcag aaagaacggg agaatcagca cctgtattca tgatccctcc ttcagtcttt
4501 cccctctctt cgtactctct caatatctcc tgggagaagc cagcagataa tgttacaaga
4561 ggaaaagttg tggggtatga catcaatatg ctttctgaac aatcacctca acagtctatt
4621 cccatggcgt tttcacagct gttgcacact gctaaatccc aagaactatc ttacactgta
4681 gaaggactga aaccttatag gatatatgag tttactatta ctctctgcaa ttcagttggt
4741 tgtgtgacca gtgcttcggg agcaggacaa actttagcag cagcaccagc acaactgagg
4801 ccacctctgg ttaaaggaat caacagcaca acaatccatc ttaagtggtt tccacctgaa
4861 gaactgaatg gaccctctcc tatatatcag ctggaaagga gagagtcatc tctaccagct
4921 ctgatgacca cgatgatgaa aggaatccgt ttcataggaa atgggtattg taaatttccc
4981 agctccactc acccagtcaa tacagacttc actggtaagt gtgtttgaca ttgctttatt
5041 taggagacac gaagctccaa aatgttttct atattttcat atccctttac aatgaatttt
5101 tattatacct acttagagaa atactaattc agccctttga tagcttttgc ctgattgttt
5161 cagcatgtcc atctttttag aattctgggg aaaaaagtca ggtaagtgaa ggaaaggaaa
5221 aataaaagat gaagatgaag aagcagcctt attggatcaa agtatgtgct ttgtatttgt
5281 ctttttgtga agtatgtgcc aggacatgtt tcttgaaata ttattcactg tgttctctga
5341 gcaaatgagt ttgcaaaatg ccctcatgct attggagatt ctcagtatgc accccgttac
5401 tgaaactcca aaaagcattg taagaaagct attcaacttt gcttagctaa tcatgcctaa
5461 cagatatttg atgtaatgtt ttctttttct ttctcttgct gtttccttct tctttttttc
5521 actgtgacaa cttaatatct catgttctat gaagaacatt gtggggaaaa ctaatcccag
5581 ggaaaagata acttctctaa gccaggacta tggtaaagca agtgaggctc ttgtttcggt
5641 cacaaaattt aaaggcacta aaaaactcag tgttaatgta aattttaatg caatattttt
5701 aaaaatgaaa atcaatgtga aagcactata aaaatattat caaaagctta aataaagaca
5761 gattgaactc tgtaccagca caatcctgcc tcactggcct taccctcctc ctggccttac
5821 tagtaccgca atattttgga agtcccatga cctctgtgac ttacagcttc taatagcatg
5881 atttcaatat agctgtaaaa aaactctact tatggtacac catttttcca atttttaaaa
5941 aaatttacaa agtataagat atatattatt atgtaaactc ataaagatgt tcatttaatc
6001 atccatgaga aagtcatttt ggagcaaata gctagtcttt aaaatattgc atatgtgaag
6061 acaatgaaat ggaattcgag ctataaaaat ttgtattgtt ttatttttac ttaaaatagt
6121 aaatagtttg cttttcattg agactggctg ctgatgcacc ttggtaatga atcatgatta
6181 tattctaact gagatatatt gagattaatg catgattaac tactctctca gtacatcaaa
6241 atcattgcag agtattagaa attgaaccat tgagctaaaa atgctcaact tctgctttat
6301 attcttaaaa tggcaaaaaa aaaaaaaaaa aa
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