LOCUS       AB684329                 198 bp    DNA     linear   HUM 03-JUN-2021
DEFINITION  Homo sapiens RP1L1 gene for retinitis pigmentosa 1-like 1 protein,
            complete cds, note: S1199C mutation of RP1L1.
ACCESSION   AB684329
VERSION     AB684329.1
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 198)
  AUTHORS   Kameya,S., Takahashi,H., Kabuto,T. and Yamaki,K.
  TITLE     Direct Submission
  JOURNAL   Submitted (22-NOV-2011) to the DDBJ/EMBL/GenBank databases.
            Contact:Shuhei Kameya
            Nippon Medical School Chiba Hokusoh Hospital, Dept. of
            Ophthalmology; 1715 Kamagari, Inzai, Chiba 2701694, Japan
REFERENCE   2  
  AUTHORS   Kabuto,T., Takahashi,H., Goto-Fukuura,Y., Igarashi,T., Akahori,M.,
            Kameya,S., Iwata,T., Mizota,A., Yamaki,K., Miyake,Y. and
            Takahashi,H.
  TITLE     A new mutation in the RP1L1 gene in a patient with occult macular
            dystrophy associated with a depolarizing pattern of focal macular
            electroretinograms
  JOURNAL   Mol. Vis. 18, 1031-1039 (2012)
COMMENT     
FEATURES             Location/Qualifiers
     source          1..198
                     /chromosome="8"
                     /country="Japan"
                     /db_xref="taxon:9606"
                     /isolation_source="occult macular dystrophy patient"
                     /map="8p23"
                     /mol_type="genomic DNA"
                     /organism="Homo sapiens"
                     /PCR_primers="fwd_seq: ggacagcagtccctggaagg, rev_seq:
                     actgcaccgcctcttcttgc"
     CDS             <1..>198
                     /codon_start=1
                     /gene="RP1L1"
                     /product="retinitis pigmentosa 1-like 1 protein"
                     /protein_id="BAM08935.1"
                     /transl_table=1
                     /translation="DQLDSGLWELTWSQALPDLGSHAMTENFTPTSSCGVDISSGSGG
                     SGESSVPCAMDGTLVTQGTELP"
     variation       101
                     /inference="similar to sequence:INSD:AC104964.12"
                     /note="S1199C mutation of RP1L1"
                     /replace="c"
BASE COUNT           39 a           62 c           64 g           33 t
ORIGIN      
        1 gaccagctgg actcaggcct ctgggagctc acatggagcc aggctctgcc agaccttggg
       61 tcccatgcca tgacggagaa cttcacgccc acatcctcct gtggtgtgga catcagcagc
      121 ggctctggag gctcagggga gagtagcgta ccctgtgcca tggacggcac cctggtgaca
      181 caggggacag agctgccc
//