RetinoschisisDB©

Retinoschisis 1 (RS1) - coding DNA reference sequence

(used for mutation description)

(last modified November 11, 2005)

Homo sapiens X-linked juvenile retinoschisis (RS1) coding DNA Reference Sequence used for the description of sequence variations found in the RS1 gene. The reference sequence is based on NM_000330.2, extended 5' with AF018958.1 (nucleotide 1-120). The genomic reference sequence is derived from Z94056.1 (promoter region, exon 1 and 5' part intron 1) and Z92542.2 (3' part intron 1 to 3' gene flanking region).

Please note that introns are available by clicking on the exon numbers above the sequence. 

 (upstream sequence)
                     .         .         .         .         
 exon 01            aggcaggtaactctgtgggttaacttgatggggctcagcca       -121

 .         .         .         .         .         .         
 aagacctaagaactaaatggattaagatgcttaatgaggccagggctcaacttaatcccc       -61

 .         .         .         .         .         .         
 tgctcctgggccagctctccagttcagtaaggtagagctttggccgaggacgaggggaag       -1

          .         .         .         .         .   | 02     .
 ATGTCACGCAAGATAGAAGGCTTTTTGTTATTACTTCTCTTTGGCTATGAAG | CCACATTG     60
 M  S  R  K  I  E  G  F  L  L  L  L  L  F  G  Y  E  A |   T  L       20

          .         | 03         .         .         .         .
 GGATTATCGTCTACCGAG | GATGAAGGCGAGGACCCCTGGTACCAAAAAGCATGCAAGTGC     120
 G  L  S  S  T  E   | D  E  G  E  D  P  W  Y  Q  K  A  C  K  C       40

          .         .         .         .         .         .
 GATTGCCAAGGAGGACCCAATGCTCTGTGGTCTGCAGGTGCCACCTCCTTGGACTGTATA        180
 D  C  Q  G  G  P  N  A  L  W  S  A  G  A  T  S  L  D  C  I          60

      | 04   .         .         .         .         .         .
 CCAG | AATGCCCATATCACAAGCCTCTGGGTTTCGAGTCAGGGGAGGTCACACCGGACCAG     240
 P  E |   C  P  Y  H  K  P  L  G  F  E  S  G  E  V  T  P  D  Q       80

          .         .         .         .         .         .
 ATCACCTGCTCTAACCCGGAGCAGTATGTGGGCTGGTATTCTTCGTGGACTGCAAACAAG        300
 I  T  C  S  N  P  E  Q  Y  V  G  W  Y  S  S  W  T  A  N  K          100

          .         .       | 05 .         .         .         .
 GCCCGGCTCAACAGTCAAGGCTTTGG | GTGTGCCTGGCTCTCCAAGTTCCAGGACAGTAGC     360
 A  R  L  N  S  Q  G  F  G  |  C  A  W  L  S  K  F  Q  D  S  S       120

          .         .         .         .         .         .
 CAGTGGTTACAGATAGATCTGAAGGAGATCAAAGTGATTTCAGGGATCCTCACCCAGGGG        420
 Q  W  L  Q  I  D  L  K  E  I  K  V  I  S  G  I  L  T  Q  G          140

          .         .         .         .         .         .
 CGCTGTGACATCGATGAGTGGATGACCAAGTACAGCGTGCAGTACAGGACCGATGAGCGC        480
 R  C  D  I  D  E  W  M  T  K  Y  S  V  Q  Y  R  T  D  E  R          160

          .         .         .         .   | 06     .         .
 CTGAACTGGATTTACTACAAGGACCAGACTGGAAACAACCGG | GTCTTCTATGGCAACTCG     540
 L  N  W  I  Y  Y  K  D  Q  T  G  N  N  R   | V  F  Y  G  N  S       180

          .         .         .         .         .         .
 GACCGCACCTCCACGGTTCAGAACCTGCTGCGGCCCCCCATCATCTCCCGCTTCATCCGC        600
 D  R  T  S  T  V  Q  N  L  L  R  P  P  I  I  S  R  F  I  R          200

          .         .         .         .         .         .
 CTCATCCCGCTGGGCTGGCACGTCCGCATTGCCATCCGGATGGAGCTGCTGGAGTGCGTC        660
 L  I  P  L  G  W  H  V  R  I  A  I  R  M  E  L  L  E  C  V          220

          .        
 AGCAAGTGTGCCTGA     675
 S  K  C  A  X       224

          .         .         .         .         .         .
 tgcctgcctcagctcggcgcctgccagggggtgactggcacagagcgggccgtaggggac        *60

          .         .         .         .         .         .
 cccctcacacaccaccgagatggacagggctatatttcgcaaagcaattgtaactgcagt        *120

          .         .         .         .         .         .
 gctgggtagataatttttttttttttaagatatagctttctgatttcaatgaaataaaaa        *180

          .         .         .         .         .         .
 tgaacttattccccactcagggccagagaaagtcagaacaaagaaaatgtccccgaaacg        *240

          .         .         .         .         .         .
 aattttcttacaaaagcctaagtagcaggggtaattttctgctcattttttgtctcagtg        *300

          .         .         .         .         .         .
 atactgtgaaaggtgcagtctcaggggaacacaaagcagccctgataatttgaaaattca        *360

          .         .         .         .         .         .
 tttgctttaccacattcaagacagaaacatacagtttcctaaagcctggctttgaatgca        *420

          .         .         .         .         .         .
 gaagggagcagctcctcctagttaagtttccactaaatcatcgccaaagaggacttcaga        *480

          .         .         .         .         .         .
 gccctggggaggcagctgagggtctcaagggtgactgggtggcagggatgagtgcggtgg        *540

          .         .         .         .         .         .
 gtgagaatcccggtgccctgagaggctatacgtgacaaatgaccaaaagcccaaggtagg        *600

          .         .         .         .         .         .
 ggagtttcctctgctcacagttcttaccttcaaggcggatctgggcttccaccctcatga        *660

          .         .         .         .         .         .
 acacagggattggggagggaccagagcgcccaatacacacagctccattatgcaatccat        *720

          .         .         .         .         .         .
 tccagcaaattccccgtgtctgtggtcaccatttaggtgatcatacaggacaggctgcac        *780

          .         .         .         .         .         .
 atctcagtatatgtagggaccccaaatgaccacaacacagtacaattgccctttacctag        *840

          .         .         .         .         .         .
 ggctaccatttcctagcaaaccaaacatagttcgagaacagctggcccaggagctaccac        *900

          .         .         .         .         .         .
 tggctactcagaggaggctcattagctggctacatgcttcgcaggaagtgggaaggactc        *960

          .         .         .         .         .         .
 acatcataaaaaggaccatgtagctttttccctgaaagcttctcaccctccaccctctgc        *1020

          .         .         .         .         .         .
 cttgcaatacgcaaactgcgcctgctcctgaaaagctctctgggaaggaatgggcctggc        *1080

          .         .         .         .         .         .
 tttccgttcctggaggcggcgccttagattgggaggcctcattggccacttagagcgcag        *1140

          .         .         .         .         .         .
 cctgagtttccaggccccttcctgggagaggctgttaacacgggggaggggcaggagagg        *1200

          .         .         .         .         .         .
 gatatggagagcaggtggtggaatcagaggacgaggctgctctaaagactgttctggccc        *1260

          .         .         .         .         .         .
 cagacacagggtagtctttgctagcagctcatttccgagttacttttcattttcaaatgc        *1320

          .         .         .         .         .         .
 caaggcaagtgactagactcgcgctaatacagtgctggacaacacattcaccttttctgt        *1380

          .         .         .         .         .         .
 gaacaggcagccttctaaaagccccaaacatccttcttgatgctttgggggctcaattat        *1440

          .         .         .         .         .         .
 tttatatccaacccagcatctttctagtccctatgctgtatgcttgaacttcggaaaatg        *1500

          .         .         .         .         .         .
 cttttccccgcccaatcttctctcaaatataaacacatcacacagggtgttgggggtggg        *1560

          .         .         .         .         .         .
 gggggggggtggggggacttatccctggccttaggacacaggacaaatctattttggata        *1620

          .         .         .         .         .         .
 gaaatgcctgaacagagacccttatttggaaaggtgaattaactttggtcacgacatgga        *1680

          .         .         .         .         .         .
 ctgtcagacaaaatggcagtatcctaagagttaaggcacatcaaacacaggagtcgagag        *1740

          .         .         .         .         .         .
 agtgcagttcagggaaaaaggagaggaggaaacagtgaggcagggagaaaggctttccaa        *1800

          .         .         .         .         .         .
 ataagagttcatgttggaaacttttgtcacggctttattgagattaagttcacatacaat        *1860

          .         .         .         .         .         .
 ttgtatccatttaaagtgtacaatttgatgacttttggtatattcagagttgtgcaacca        *1920

          .         .         .         .         .         .
 ttatcactagatcaattttagaaagtttatcaccccaaagagaaatcctgcacccatcag        *1980

          .         .         .         .         .         .
 ccaacactccccaacccatcggccaccccaagccctctgcaaccacgaatcgactgtctc        *2040

          .         .         .         .         .         .
 tgtagattggccttctggacgttctacataaatgaaatcatatagtatgtggtatttcgt        *2100

          .         .         .         .         .         .
 gactggcttctttcacttagcatagtgttttaaagttcatccacgttataacatgtgtat        *2160

          .         .         .         .         .         .
 cactatgtcacttgtcactcctttttattgctgaacatcattgttcagtatcatgtcaag        *2220

          .         .         .         .         .         .
 agcacattgttatttatccattcatccattgatggatatttgggtttccactctttagct        *2280

          .         .         .      
 attatgaataatgctgctatgaacatttgtgtataa                                *2316

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Retinoschis 1 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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