LOCUS       AM919470                 865 bp    mRNA    linear   HUM 10-JAN-2009
DEFINITION  Homo sapiens partial mRNA for partial solute carrier family 4,
            anion exchanger, number 1 (AE1 gene), allele AE1 E522K mutation as
            band 3 Kaohsiung.
ACCESSION   AM919470
VERSION     AM919470.1
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 865)
  AUTHORS   Chang Y.H.
  JOURNAL   Submitted (27-NOV-2007) to the INSDC. Chang Y.H., Pediatrics,
            Kaohsiung Veterans General Hospital, 386 Ta-Chung 1st RD.
            Kaohsiung, Taiwan 81346 R.O.C., Taiwan 81346 R.O.C., TAIWAN.
REFERENCE   2
  AUTHORS   Chang Y.H.
  TITLE     Compound anion exchanger 1 E522K/G701D mutations associated with
            severe hereditary spherocytosis and renal tubular acidosis
  JOURNAL   Unpublished.
FEATURES             Location/Qualifiers
     source          1..865
                     /db_xref="H-InvDB:HIT000500173"
                     /organism="Homo sapiens"
                     /chromosome="17"
                     /map="17q21-22"
                     /host="Homo sapiens"
                     /mol_type="mRNA"
                     /country="Taiwan:South Taiwan"
                     /lat_lon="22.37 N 120.19 E"
                     /collected_by="Yu-Hsiang Chang"
                     /collection_date="2004"
                     /pop_variant="Kaohsiung"
                     /cell_type="leukocyte"
                     /tissue_type="blood"
                     /PCR_primers="fwd_name: E, fwd_seq: agactccagcttctacaagg,
                     rev_name: F, rev_seq: gttggacaccttgaagccat"
                     /db_xref="taxon:9606"
     CDS             <1..>865
                     /codon_start=2
                     /gene="AE1"
                     /allele="AE1 E522K mutation as band 3 Kaohsiung"
                     /product="solute carrier family 4, anion exchanger, number
                     1"
                     /db_xref="GOA:B7ZFE0"
                     /db_xref="H-InvDB:HIT000500173.4"
                     /db_xref="InterPro:IPR001717"
                     /db_xref="InterPro:IPR003020"
                     /db_xref="InterPro:IPR011531"
                     /db_xref="InterPro:IPR018241"
                     /db_xref="UniProtKB/TrEMBL:B7ZFE0"
                     /inference="similar to RNA sequence, mRNA:INSD:M27819.1"
                     /protein_id="CAP46016.1"
                     /translation="DSSFYKGLDLNGGPDDPLQQTGQLFGGLVRDIRRRYPYYLSDIT
                     DAFSPQVLAAVIFIYFAALSPAITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGA
                     QPLLVVGFSGPLLVFEEAFFSFCETNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVR
                     FISRYTQKIFSFLISLIFIYETFSKLIKIFQDHPLQKTYNYNVLMVPKPQGPLPNTAL
                     LSLVLMAGTFFFAMMLRKFKNSSYFPGKLRRVIGDFGVPISILIMVLVDFFIQDTYTQ
                     KLSVPDGFKVSN"
     variation       503
                     /replace="g"
                     /compare=M27819.1
BASE COUNT          154 a          276 c          214 g          221 t
ORIGIN      
        1 agactccagc ttctacaagg gcctagactt aaatgggggc ccagatgacc ctctgcagca
       61 gacaggccag ctcttcgggg gcctggtgcg tgatatccgg cgccgctacc cctattacct
      121 gagtgacatc acagatgcat tcagccccca ggtcctggct gccgtcatct tcatctactt
      181 tgctgcactg tcacccgcca tcaccttcgg cggcctcctg ggagaaaaga cccggaacca
      241 gatgggagtg tcggagctgc tgatctccac tgcagtgcag ggcattctct tcgccctgct
      301 gggggctcag cccctgcttg tggtcggctt ctcaggaccc ctgctggtgt ttgaggaagc
      361 cttcttctcg ttctgcgaga ccaacggtct agagtacatc gtgggccgcg tgtggatcgg
      421 cttctggctc atcctgctgg tggtgttggt ggtggccttc gagggtagct tcctggtccg
      481 cttcatctcc cgctataccc agaagatctt ctccttcctc atttccctca tcttcatcta
      541 tgagactttc tccaagctga tcaagatctt ccaggaccac ccactacaga agacttataa
      601 ctacaacgtg ttgatggtgc ccaaacctca gggccccctg cccaacacag ccctcctctc
      661 ccttgtgctc atggccggta ccttcttctt tgccatgatg ctgcgcaagt tcaagaacag
      721 ctcctatttc cctggcaagc tgcgtcgggt catcggggac ttcggggtcc ccatctccat
      781 cctgatcatg gtcctggtgg atttcttcat tcaggatacc tacacccaga aactctcggt
      841 gcctgatggc ttcaaggtgt ccaac
//