Lowe Syndrome Mutation Database

Numbering of exons, nucleic acid sequence,
and protein sequence used in this database

Exon	Nucleotides
1	To -13
2	-12 to 68
3	69 to 148
4	149 to 187
5	188 to 298
6	299 to 388
7	389 to 509
8	510 to 670
9	671 to 773
10	774 to 888
11	889 to 1004
12	1005 to 1193
13	1194 to 1304
14	1305 to 1415
15	1416 to 1551
16	1552 to 1662
17	1663 to 1828
18	1829 to 2064
18a	2065 to 2088
19	2089 to 2205
20	2206 to 2290
21	2291 to 2418
22	2419 to 2530
23	2531 to 4935

-216                           TCTCAG CTCCCAGCTC CCCGCTCCCG GCTCCCGGCG
-180 CCCGGCGCCC GGCGCGGAGC TGTTCCTCAA ACGACACGCA GCCGAGGTGG GTGGGTGTGG 
-120 GGACGCGGGA GCCAGTGTCG TCGGATCGGC CCGCAGTCCG CTGTCCTGCT GAGCCCGGAG
 -60 GCCGCCTGGA TGGAGCCGCC GCTCCCGGTC GGAGCCCAGC CGCTTGCCAC TGTCGAGGGT

   1 ATGGAGATGA AGGGTCCTCT CCGGGAGCCC TGCGCCCTGA CCCTAGCCCA GAGGAACGGG
   1  M  E  M   K  G  P  L   R  E  P   C  A  L   T  L  A  Q   R  N  G

  61 CAATATGAGT TAATAATCCA GTTGCATGAG AAGGAACAGC ATGTTCAAGA TATCATTCCT
  21  Q  Y  E   L  I  I  Q   L  H  E   K  E  Q   H  V  Q  D   I  I  P

 121 ATAAATAGCC ACTTCAGATG TGTTCAAGAA GCAGAAGAAA CTCTTTTGAT TGACATAGCT
  41  I  N  S   H  F  R  C   V  Q  E   A  E  E   T  L  L  I   D  I  A

 181 TCTAACAGTG GCTGCAAAAT TCGGGTTCAG GGGGACTGGA TCAGAGAGCG CCGCTTTGAA
  61  S  N  S   G  C  K  I   R  V  Q   G  D  W   I  R  E  R   R  F  E

 241 ATCCCTGATG AGGAACACTG TTTGAAGTTC CTCTCAGCTG TCCTTGCTGC TCAGAAAGCT
  81  I  P  D   E  E  H  C   L  K  F   L  S  A   V  L  A  A   Q  K  A

 301 CAGTCACAGC TTCTTGTTCC AGAGCAAAAG GACTCATCTA GCTGGTACCA GAAATTAGAC
 101  Q  S  Q   L  L  V  P   E  Q  K   D  S  S   S  W  Y  Q   K  L  D

 361 ACTAAGGACA AACCTTCTGT TTTTTCAGGG CTTCTTGGAT TTGAAGACAA TTTTTCTTCT
 121  T  K  D   K  P  S  V   F  S  G   L  L  G   F  E  D  N   F  S  S

 421 ATGAATTTGG ACAAGAAAAT AAATTCACAA AATCAGCCTA CTGGGATTCA TCGGGAACCC
 141  M  N  L   D  K  K  I   N  S  Q   N  Q  P   T  G  I  H   R  E  P

 481 CCACCTCCAC CCTTTTCAGT GAATAAAATG CTTCCACGTG AAAAAGAAGC TTCTAACAAG
 161  P  P  P   P  F  S  V   N  K  M   L  P  R   E  K  E  A   S  N  K

 541 GAGCAGCCCA AAGTGACCAA CACCATGCGG AAGCTCTTTG TACCAAATAC CCAATCTGGG
 181  E  Q  P   K  V  T  N   T  M  R   K  L  F   V  P  N  T   Q  S  G

 601 CAGCGGGAGG GTCTCATCAA ACATATCCTG GCAAAGCGAG AGAAAGAATA TGTCAACATT
 201  Q  R  E   G  L  I  K   H  I  L   A  K  R   E  K  E  Y   V  N  I

 661 CAGACTTTCA GATTTTTTGT TGGAACTTGG AATGTGAATG GCCAGTCTCC AGATAGCGGG
 221  Q  T  F   R  F  F  V   G  T  W   N  V  N   G  Q  S  P   D  S  G

 721 TTAGAACCTT GGCTGAACTG TGATCCCAAT CCTCCTGATA TCTACTGCAT TGGATTCCAA
 241  L  E  P   W  L  N  C   D  P  N   P  P  D   I  Y  C  I   G  F  Q

 781 GAACTGGACT TGAGCACAGA AGCCTTCTTC TACTTTGAAT CTGTGAAGGA ACAAGAATGG
 261  E  L  D   L  S  T  E   A  F  F   Y  F  E   S  V  K  E   Q  E  W

 841 TCCATGGCTG TAGAGAGAGG TTTGCATTCC AAAGCCAAGT ATAAGAAAGT TCAACTGGTG
 281  S  M  A   V  E  R  G   L  H  S   K  A  K   Y  K  K  V   Q  L  V

 901 CGCCTTGTTG GGATGATGCT TCTTATATTT GCCAGAAAGG ATCAGTGTCG ATACATTCGT
 301  R  L  V   G  M  M  L   L  I  F   A  R  K   D  Q  C  R   Y  I  R

 961 GATATTGCTA CAGAAACAGT TGGAACTGGA ATCATGGGGA AAATGGGAAA CAAAGGTGGG
 321  D  I  A   T  E  T  V   G  T  G   I  M  G   K  M  G  N   K  G  G

1021 GTAGCTGTGA GATTTGTATT TCACAACACC ACCTTTTGCA TTGTCAATTC CCATCTGGCT
 341  V  A  V   R  F  V  F   H  N  T   T  F  C   I  V  N  S   H  L  A

1081 GCACACGTGG AGGACTTTGA GAGAAGGAAT CAAGATTATA AGGACATTTG TGCGAGAATG
 361  A  H  V   E  D  F  E   R  R  N   Q  D  Y   K  D  I  C   A  R  M

1141 AGTTTTGTGG TCCCAAATCA GACCCTCCCG CAGTTGAACA TCATGAAACA TGAGGTTGTC
 381  S  F  V   V  P  N  Q   T  L  P   Q  L  N   I  M  K  H   E  V  V

1201 ATTTGGTTGG GAGATTTGAA TTATAGACTT TGCATGCCTG ATGCCAATGA GGTGAAAAGT
 401  I  W  L   G  D  L  N   Y  R  L   C  M  P   D  A  N  E   V  K  S

1261 CTTATTAATA AGAAAGACCT TCAGAGACTC TTGAAATTCG ACCAGCTAAA TATTCAGCGC
 421  L  I  N   K  K  D  L   Q  R  L   L  K  F   D  Q  L  N   I  Q  R

1321 ACACAGAAAA AAGCTTTTGT TGACTTCAAT GAAGGGGAAA TCAAGTTCAT CCCCACTTAT
441   T  Q  K   K  A  F  V   D  F  N   E  G  E   I  K  F  I   P  T  Y

1381 AAGTATGACT CTAAAACAGA CCGGTGGGAT TCCAGTGGGA AATGCCGGGT TCCAGCCTGG
 461  K  Y  D   S  K  T  D   R  W  D   S  S  G   K  C  R  V   P  A  W

1441 TGTGACCGAA TTCTTTGGAG AGGAACAAAT GTTAATCAGC TTAATTATCG GAGTCACATG
 481  C  D  R   I  L  W  R   G  T  N   V  N  Q   L  N  Y  R   S  H  M

1501 GAACTGAAAA CCAGCGACCA CAAGCCTGTT AGCGCCCTCT TCCATATTGG GGTGAAGGTT
 501  E  L  K   T  S  D  H   K  P  V   S  A  L   F  H  I  G   V  K  V

1561 GTGGATGAAC GAAGGTACCG GAAAGTCTTT GAAGATAGTG TACGCATCAT GGACAGAATG
 521  V  D  E   R  R  Y  R   K  V  F   E  D  S   V  R  I  M   D  R  M

1621 GAAAATGACT TCCTTCCTTC CTTAGAACTC AGCAGGAGGG AGTTTGTGTT TGAAAATGTG
 541  E  N  D   F  L  P  S   L  E  L   S  R  R   E  F  V  F   E  N  V

1681 AAGTTTCGGC AACTACAAAA GGaGAAGTTC CAGATCAGCA ACAATGGACA GGTTCCCTGC
 561  K  F  R   Q  L  Q  K   E  K  F   Q  I  S   N  N  G  Q   V  P  C

1741 CATTTTTCTT TCATCCCTAA ACTTAATGAC AGCCAGTACT GCAAGCCATG GCTTCGGGCT
 581  H  F  S   F  I  P  K   L  N  D   S  Q  Y   C  K  P  W   L  R  A

1801 GAACCTTTTG AGGGCTACTT GGAGCCAAAT GAGACAGTGG ACATTTCTCT TGATGTGTAT
 601  E  P  F   E  G  Y  L   E  P  N   E  T  V   D  I  S  L   D  V  Y

1861 GTCAGCAAAG ACTCTGTAAC CATCCTGAAC TCGGGAGAAG ATAAGATTGA AGATATTCTC
 621  V  S  K   D  S  V  T   I  L  N   S  G  E   D  K  I  E   D  I  L

1921 GTCCTTCACC TGGATCGAGG CAAAGATTAC TTCTTGACTA TCAGTGGAAA TTACCTCCCA
 641  V  L  H   L  D  R  G   K  D  Y   F  L  T   I  S  G  N   Y  L  P

1981 AGTTGTTTTG GCACATCCTT AGAGGCTCTG TGCCGTATGA AAAGACCAAT CCGAGAAGTT
 661  S  C  F   G  T  S  L   E  A  L   C  R  M   K  R  P  I   R  E  V

2041 CCTGTTACCA AACTCATAGA CTTGgaagaa gacagcttcc tagaaaagGA GAAATCCCTT
 681  P  V  T   K  L  I  D   L  E  E   D  S  F   L  E  K  E   K  S  L

2101 CTGCAAATGG TTCCTTTGGA TGAAGGTGCC AGTGAGAGAC CCCTTCAGGT TCCCAAGGAG
 701  L  Q  M   V  P  L  D   E  G  A   S  E  R   P  L  Q  V   P  K  E

2161 ATCTGGCTTC TAGTAGATCA CCTATTCAAA TACGCCTGTC ACCAGGAGGA CCTGTTCCAG
 721  I  W  L   L  V  D  H   L  F  K   Y  A  C   H  Q  E  D   L  F  Q

2221 ACCCCTGGAA TGCAGGAAGA GCTCCAGCAG ATCATTGATT GTCTGGATAC CAGCATTCCT
 741  T  P  G   M  Q  E  E   L  Q  Q   I  I  D   C  L  D  T   S  I  P

2281 GAGACAATCC CTGGCAGCAA CCACTCTGTG GCTGAAGCAC TGCTCATTTT CTTGGAAGCC
 761  E  T  I   P  G  S  N   H  S  V   A  E  A   L  L  I  F   L  E  A

2341 CTGCCAGAGC CAGTCATCTG TTACGAGCTG TATCAGCGAT GTCTTGACTC TGCTTATGAT
 781  L  P  E   P  V  I  C   Y  E  L   Y  Q  R   C  L  D  S   A  Y  D

2401 CCCCGGATCT GCCGACAGGT GATCTCCCAG CTTCCGAGAT GCCATAGAAA TGTTTTCCGT
 801  P  R  I   C  R  Q  V   I  S  Q   L  P  R   C  H  R  N   V  F  R

2461 TACTTGATGG CATTCCTTCG AGAACTCTTA AAATTCTCTG AATACAATAG CGTCAATGCC
 821  Y  L  M   A  F  L  R   E  L  L   K  F  S   E  Y  N  S   V  N  A

2521 AACATGATCG CTACTCTCTT CACTAGTCTT CTCCTGAGGC CTCCACCCAA CCTTATGGCA
 841  N  M  I   A  T  L  F   T  S  L   L  L  R   P  P  P  N   L  M  A

2581 AGACAGACTC CAAGTGACCG CCAGCGTGCT ATTCAGTTCC TTCTGGGCTT TCTGCTTGGG
 861  R  Q  T   P  S  D  R   Q  R  A   I  Q  F   L  L  G  F   L  L  G

2641 AGCGAAGAAG ACTAA
 881  S  E  E   D  .

2656                 GGCTT TTACTGTTCT CTGATATTCT AGAAGCAGAC GATCTCGGGC
2701 TCCAAGTATT TCAGAATGAT TTAAAAAGTC ATGCCACAGG AAGGGTCTAT TGCAGAATTT
2761 CAAGTTCTGT TTATAGTAAA AAGGAAGAGC GTTTCCTAAT CCCTCCTTTA CCATATCCTA
2821 CACAGAAAAA TACTTTTAGA CTTATATTGC CAAGCCAAAG TTACCATATT TTGGTGTTTT
2881 TGTGTTTTCT CTTTATAAGG CAAAAAGATC TGTATTTACA CTCCTTCACC TAAGGATGTG
2941 TTTGTTGCCC TCCTACCCAA TTGTCATGAT TGTCCTTAGT ACCCTAGGCC TAGATTCTGA
3001 GATCTTCCCA TTCTAGGCCT ACAAGCACTA CTTGCTGTAG CTGAGACTTG TCTAGAGTCC
3061 TTTGTTTTGC ACTTTTGACC CACCCCTTCC TGGATCACTC CTTTGCACTC CACTCCCGGA
3121 ATTCCTGTCA CTTTGAACGA AGTCTGAGTG AGGCTAGTGA CTCCTTGGGT GTCCTCAACA
3181 GTGAATTCAC TGTCTGCGTG CAGTTATTAC ATGCATTTGT GCATTCTACT ACAATGGCAT
3241 CTTTATGTCT CTGTAACATT GGCCTTTTCA TGGCTCCACA CTGGGTGGAA GGATATTCTC
3301 TTAGATCACA TTTAGTAGCA TAACTGTAGG GACTATTAGA GATGGCATCT CATCGATGAG
3361 AGAGAATCAC AATCAGAATG GAAGCACTTT GAGTATCTGA AGAGTGAGAG CATTCATGTT
3421 TGACAGGTCC TGCTTCCCAC TATCCTTTTC CTGTTATTAT TCAAATTTTA CACAAGGACT
3481 AATCCTGGGT GTCTCTGAGA CCCATCTCCT GCCTAGACAT CCACCTCCAG AGCAACACTG
3541 GCCCCACAGT AAAAGAGGAA GTCTTGTACC TCAGGCAGGC CCATCTAGAG CTATTGCTCC
3601 TTCCCACAGC AAAGGTATTG TGGATGACCC TTAGAATCCA TTCTCTGGTC TTCTGAAATA
3661 CCAAGGGCAG ATGTCACCTC CTTCCTCAGC AGGACTGACT CTGGGCTCTA CAACCAGCTC
3721 CTTCACATAA AGGGTTTAGA GACTCCCCTT GGCTCCCAGT CACCATATCC AGTGTTGTGT
3781 AAAGAGACTG GCCAACAGGA CCAACCAAGC ACCTTACCTC TCCCATACAA GATGACCCTC
3841 TGAGCTTTTC ATTTATTCAA GCTCTGTGGT ACAGCCTTTT TTTAAAATAA ATTAATCTAT
3901 ATTGGTTGAC AAACAAGCCA CCAACCACTG ACTGCAAAAC TGCCTGATGC AGTTGGGTTC
3961 CTCCTGGTTT TCTTTTGTTA CAACCACCCT TGCCTGTTTA CATTAATTGC AAGGAGCATA
4021 ACGTACAGGC TGTATGTACA ATCCTGGGCA TTGACTCTGT GACATTTCTA GCATATCCAA
4081 GGCACCACCA GTGATTTCTC CTGTTTCTTG GTGGGGGTGG GGGGGAAGGT TACGTATTCT
4141 GCAATATGGC TAAACCCTTT CCTGATTGAG AGTTAAAGCA ATAGGAGTCA AGTTACTGGT
4201 GCCACAGATC TGGAGGTATG ATAGGTCAGG GGCTAGGTGT TGAACTTAGT TAATGGAAGA
4261 CTGAGAGCAG AACAGGTTTG TCAnTCTCCG CAAGGCCAGA AAGTnTCACA AAAAGAGGCA
4321 GATGATAGAC ACTGGGGTAG GGTCATACCA CAGGGAAATA CCTTTCCTGG CTTGTTTTCT
4381 AGCATATCAC TGACCTGGGA TCTTTGGGTG AnnAAGGGTG TGGnnACTGG AGGCTCTGTG
4441 CAGCACGTGA TGCAGATCCT ATCTCTTTCT ACATCAGATC AAAACACTAA GTTGGTGTAC
4501 TGCCTCGACC TTTTTTCAGC TCATCCTGGA ACATATACAG AGTTGAGAGT TTTAGACAAT
4561 CTCTAGGTAG AGGAGACAAG AATGTAGACC CAGACAGAAG AAATCTGCTT CCCTACCATG
4621 GCTATTCCAG CACCCGAACC TGTAATTGCC AAGTCCCTAA GGTACTAATT TGTAGCTGCT
4681 CTGAAGTAAG GATTTCGGAT TCAGCTGGTn AAAGACTCTG TCACCTGCTG TCTTCAGGGA
4741 AGAAATGGTT CAAATCCATG TGGTGACATT GCATTAGTCT CCCTTTCACT GTTTTCTTAT
4801 TCTGTAATTG TTTGTTATAT TTCCCAAAAA CGTCTTGATC ACTAAGCAAA GCTGCTAGTG
4861 GCATTCTATA TTTCGTGTCA TCTTTTTTAT TATAATTTAT TGCAAATTTT TTTCTGAATA
4921 AATATATGTT GTGTGAAAAA AAAAAAAA

Exon	Nucleotides
1	To -13
2	-12 to 68
3	69 to 148
4	149 to 187
5	188 to 298
6	299 to 388
7	389 to 509
8	510 to 670
9	671 to 773
10	774 to 888
11	889 to 1004
12	1005 to 1193
13	1194 to 1304
14	1305 to 1415
15	1416 to 1551
16	1562 to 1662
17	1663 to 1828
18	1829 to 2064
18a	2065 to 2088
19	2089 to 2205
20	2206 to 2290
21	2291 to 2418
22	2419 to 2530
23	2531 to 4935

Designation of the first coding ATG is based on (1) Western analysis comparing the size of endogenous Ocrl1 protein with the size of the protein produced in cultured cells by expressing an OCRL1 cDNA that uses this ATG, (2) the optimum Kozak translational start sequence.