LOCUS       HSA7670      5646 bp    mRNA            PRI       08-SEP-1998
DEFINITION  Homo sapiens mRNA for LGMD2B protein.
ACCESSION   AJ007670
NID         g3560123
KEYWORDS    LGMD 2B protein.
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Vertebrata; Mammalia; Eutheria;
            Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5646)
  AUTHORS   Bashir,R., Britton,S., Strachan,T., Keers,S., Vafiadaki,E.,
            Lako,M., Richard,I., Marchand,S., Bourg,N., Argov,Z., Sadeh,M.,
            Mahjneh,I., Marconi,G., Passos-Bueno,M.R., de S Moreira,E.,
            Zatz,M., Beckmann,J. and Bushby,K.
  TITLE     A gene related to Caenorhabditis elegans spermatogenesis factor
            fer-1 is mutated in limb-girdle muscular dystrophy type 2B
  JOURNAL   Nature Genet. 20 (1), 37-42 (1998)
  MEDLINE   98400253
REFERENCE   2  (bases 1 to 5646)
  AUTHORS   Britton,S.A.
  TITLE     Direct Submission
  JOURNAL   Submitted (13-JUL-1998) Britton S.A., Human Molecular Genetics,
            University of Newcastle Upon Tyne, Ridley Building, Claremont
            Place., NE1 7RU, UK
COMMENT     incorrectly cited as AJ00760 in [2].
FEATURES             Location/Qualifiers
     source          1..5646
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /tissue_type="muscle"
                     /map="p13"
     gene            1..4798
                     /gene="LGMD2B"
     CDS             <1..4243
                     /gene="LGMD2B"
                     /codon_start=2
                     /product="LGMD2B protein"
                     /db_xref="PID:e1319552"
                     /db_xref="PID:g3560124"
                     /translation="XEWAREQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDV
                     DDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYW
                     EDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQP
                     LGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLRA
                     LAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYP
                     MEKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTT
                     GLTYPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFE
                     NQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWE
                     YSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEY
                     ASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMS
                     VSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQK
                     TVVVKNTLNPTWDQTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCIC
                     QPSLERMPRLAWFPLTRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESE
                     DTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVEC
                     GGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQ
                     CTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDW
                     WSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEE
                     TEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPK
                     DPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYD
                     LLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQH
                     RVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVES
                     RPLYSPXQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVIL
                     DDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQV
                     CTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKK
                     CSLDQLDDAFHPEWFVSLFEQKTVKGWWPCCSRRG"
     mutation        3183..3189
                     /gene="LGMD2B"
                     /replace="acccct"
     mutation        3350..3372
                     /gene="LGMD2B"
                     /note="sequence is duplicated"
     3'UTR           4555..4826
                     /citation=[1]
     polyA_signal    4798
                     /gene="LGMD2B"
BASE COUNT     1242 a   1586 c   1572 g   1199 t     47 others
ORIGIN      
        1 gkkagagtgg gccagggaac agaaggtgga ggaccttcct gcggatgaca tcctccgggt
       61 ggagaagtac cttaggaggc gcaagtactc cctgtttgcg gccttctact cagccaccat
      121 gctgcaggat gtggatgacg ccatccagtt tgaggtcagc atcgggaact acgggaacaa
      181 gttcgacatg acctgcctgc cgctggcctc caccactcag tacagccgtg cagtctttga
      241 cgggtgccac tactactacc taccctgggg taacgtgaaa cctgtggtgg tgctgtcatc
      301 ctactgggag gacatcagcc atagaatcga gactcagaac cagctgcttg ggattgctga
      361 ccggctggaa gctggcctgg agcaggtcca cctggccctg aaggcgcagt gctccacgga
      421 ggacgtggac tcgctggtgg ctcagctgac ggatgagctc atcgcaggct gcagccagcc
      481 tctgggtgac atccatgaga caccctctgc cacccacctg gaccagtacc tgtaccagct
      541 gcgcacccat cacctgagcc aaatcactga ggctgccctg gccctgaagc tcggccacag
      601 tgagctccct gcagctctgg agcaggcgga ggactggctc ctgcgtctgc gtgccctggc
      661 agaggagccc cagaacagcc tgccggacat cgtcatctgg atgctgcagg gagacaagcg
      721 tgtggcatac cagcgggtgc ccgcccacca agtcctcttc tcccggcggg gtgccaacta
      781 ctgtggcaag aattgtggga agctacagac aatctttctg aaatatccga tggagaaggt
      841 gcctggcgcc cggatgccag tgcagatacg ggtcaagctg tggtttgggc tctctgtgga
      901 tgagaaggag ttcaaccagt ttgctgaggg gaagctgtct gtctttgctg aaacctatga
      961 gaacgagact aagttggccc ttgttgggaa ctggggcaca acgggcctca cctaccccaa
     1021 gttttctgac gtcacgggca agatcaagct acccaaggac agcttccgcc cctcggccgg
     1081 ctggacctgg gctggagatt ggttcgtgtg tccggagaag actctgctcc atgacatgga
     1141 cgccggtcac ctgagcttcg tggaagaggt gtttgagaac cagacccggc ttcccggagg
     1201 ccagtggatc tacatgagtg acaactacac cgatgtgaac ggggagaagg tgcttcccaa
     1261 ggatgacatt gagtgcccac tgggctggaa gtgggaagat gaggaatggt ccacagacct
     1321 caaccgggct gtcgatgagc aaggctggga gtatagcatc accatccccc cggagcggaa
     1381 gccgaagcac tgggtccctg ctgagaagat gtactacaca caccgacggc ggcgctgggt
     1441 gcgcctgcgc aggagggatc tcagccaaat ggaagcactg aaaaggcaca ggcaggcgga
     1501 ggcggagggc gagggctggg agtacgcctc tctttttggc tggaagttcc acctcgagta
     1561 ccgcaagaca gatgccttcc gccgccgccg ctggcgccgt cgcatggagc cactggagaa
     1621 gacggggcct gcagctgtgt ttgcccttga gggggccctg ggcggcgtga tggatgacaa
     1681 gagtgaagat tccatgtccg tctccacctt gagcttcggt gtgaacagac ccacgatttc
     1741 ctgcatattc gactatggga accgctacca tctacgctgc tacatgtacc aggcccggga
     1801 cctggctgcg atggacaagg actctttttc tgatccctat gccatcgtct ccttcctgca
     1861 ccagagccag aagacggtgg tggtgaagaa cacccttaac cccacctggg accagacgct
     1921 catcttctac gagatcgaga tctttggcga gccggccaca gttgctgagc aaccgcccag
     1981 cattgtggtg gagctgtacg accatgacac ttatggtgca gacgagttta tgggtcgctg
     2041 catctgtcaa ccgagtctgg aacggatgcc acggctggcc tggttcccac tgacgagggg
     2101 cagccagccg tcgggggagc tgctggcctc ttttgagctc atccagagag agaagccggc
     2161 catccaccat attcctggtt ttgaggtgca ggagacatca aggatcctgg atgagtctga
     2221 ggacacagac ctgccctacc caccacccca gagggaggcc aacatctaca tggttcctca
     2281 gaacatcaag ccagcgctcc agcgtaccgc catcgagata ctggcatggg gcctgcggaa
     2341 catgaagagt taccagctgg ccaacatctc ctcccccagc ctcgtggtag agtgtggggg
     2401 ccagacggtg cagtcctgtg tcatcaggaa cctccggaag aaccccaact ttgacatctg
     2461 caccctcttc atggaagtga tgctgcccag ggaggagctc tactgccccc ccatcaccgt
     2521 caaggtcatc gataaccgcc agtttggccg ccggcctgtg gtgggccagt gtaccatccg
     2581 ctccctggag agcttcctgt gtgaccccta ctcggcggag agtccatccc cacagggtgg
     2641 cccagacgat gtgagcctac tcagtcctgg ggaagacgtg ctcatcgaca ttgatgacaa
     2701 ggagcccctc atccccatcc aggaggaaga gttcatcgat tggtggagca aattctttgc
     2761 ctccataggg gagagggaaa agtgcggctc ctacctggag aaggattttg acaccctgaa
     2821 ggtctatgac acacagctgg agaatgtgga ggcctttgag ggcctgtctg acttttgtaa
     2881 caccttcaag ctgtaccggg gcaagacgca ggaggagaca gaagatccat ctgtgattgg
     2941 tgaatttaag ggcctcttca aaatttatcc cctcccagaa gacccagcca tccccatgcc
     3001 cccaagacag ttccaccagc tggccgccca gggaccccag gagtgcttgg tccgtatcta
     3061 cattgtccga gcatttggcc tgcagcccaa ggaccccaat ggaaagtgtg atccttacat
     3121 caagatctcc atagggaaga aatcagtgag tgaccaggat aactacatcc cctgcacgct
     3181 ggagcccgta tttggaaaga tgttcgagct gacctgcact ctgcctctgg agaaggacct
     3241 aaagatcact ctctatgact atgacctcct ctccaaggac gaaaagatcg gtgagacggt
     3301 cgtcgacctg gagaacaggc tgctgtccaa gtttggggct cgctgtggac tcccacagac
     3361 ctactgtgtc tctggaccga accagtggcg ggaccagctc cgcccctccc agctcctcca
     3421 cctcttctgc cagcagcata gagtcaaggc acctgtgtac cggacagacc gtgtaatgtt
     3481 tcaggataaa gaatattcca ttgaagagat agaggctggc aggatcccaa acccacacct
     3541 gggcccagtg gaggagcgtc tggctctgca tgtgcttcag cagcagggcc tggtcccgga
     3601 gcacgtggag tcacggcccc tstacagccc cstgcagcca gacatcgagc aggggaagct
     3661 gcagatgtgg gtcgacctat ttccgaaggc cctggggcgg cctggacctc ccttcaacat
     3721 caccccacgg agagccagaa ggtttttcct gcgttgtatt atctggaata ccagagatgt
     3781 gatcctggat gacctgagcc tcacggggga gaagatgagc gacatttatg tgaaaggttg
     3841 gatgattggc tttgaagaac acaagcaaaa gacagacgtg cattatcgtt ccctgggagg
     3901 tgaaggcaac ttcaactgga ggttcatttt ccccttcgac tacctgccag ctgagcaagt
     3961 ctgtaccatt gccaagaagg atgccttctg gaggctggac aagactgaga gcaaaatccc
     4021 agcacgagtg gtgttccaga tctgggacaa tgacaagttc tcctttgatg attttctggg
     4081 ctccctgcag ctcgatctca accgcatgcc caagccagcc aagacagcca agaagtgctc
     4141 cttggaccag ctggatgatg ctttccaccc agaatggttt gtgtcccttt ttgagcagaa
     4201 aacagtgaag ggctggtggc cctgttgtag cagaagaggg tgagaagaaa atactggcgg
     4261 gcaagctgga aatgaccttg gagattgtag cagagagtga gcatgaggag cggcctgctg
     4321 gccagggccg ggatgagccc aacatgaacc ctaagcttga ggacccaagg cgccccgaca
     4381 cctccttcct gtggtttacc tccccataca agaccatgaa gttcatcctg tggcggcgtt
     4441 tccggtgggc catcatcctc ttcatcatcc tcttcatcct gctgctgttc ctggccatct
     4501 tcatctacgc cttcccgaac tatgctgcca tgaagctggt gaagcccttc agctgaggac
     4561 tctcctgccc tgtagaaggg gccgtggggt cccctccagc atgggactgg cctgcctcct
     4621 ccgcccagct cggcgagctc ctccagacct cctaggcctg attgtcctgc cagggtgggc
     4681 agacagacag atggaccggc ccacactccc agagttgcta acatggagct ctgagatcac
     4741 cccacttcca tcatttcctt ctcccccaac ccaacgcttt tttggatcag ctcagacata
     4801 tttcagtata aaacagttgg aaccacaaaa aaaaaaaaaa aaaactcgac ggccaagtcg
     4861 gcctcccttt agtgagggtt aatttgtgat cccgggtggc atccctgtga cccctcccca
     4921 gtgcctctcc tggccctgga agttgccact ccagtgccca ccagccttgt cctaataaaa
     4981 ttaagttgca tcattttgtc tgactaggtg tccttctata atattatggg gtggaggggg
     5041 gtggtatgga gcaaggggca agttgggaag acaacctgta gggcctgcgg ggtctattgg
     5101 gaaccaagct ggagtgcagt ggcacaatct tggctcactg caatctccgc ctnctgggtt
     5161 caagcgattc tcctgcctca gcctcccgag ttgttgggat tccaggcatg catgaccagg
     5221 ctcagctaat ttttgttttt ttggtagana cggggtttca ccatattggc caggctggtc
     5281 tccaactcct aatctcaggt gatctaccca ccttggcctc ccaaattgct gggtattaca
     5341 ggcgtgaaac cactgnttcc cttcctgntc ttctgatttt aaaataactt tttccancng
     5401 ggaggacgtc cngacncaag cntaaggcta ccctggccat gcccaaccng nnggaacatt
     5461 ttganttggc ttgcttnggc actgtncctn tttatgccnt nggggtccnc ttcacttana
     5521 tgccntnntg gaaattnggg ntcccccggc ncacntttgg nttnngggaa tgtngtgntn
     5581 nanttttngg tngttggaaa agatncccca tgnttctcca aaaatgccnn aaattttntc
     5641 acancg
//



