lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) (LRAT) - coding DNA reference sequence

(used for variant description)

(last modified February 4, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_004744.3 in the LRAT gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009110.1, covering LRAT transcript NM_004744.3.

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

 (upstream sequence)
                               .         .         .                g.122083
                            gcggccctgcccccggcacggcccccaggtgcg       c.-181

 .         .         .         .         .         .                g.122143
 ctccttctccggctgcttgtagcactggtctcactgtccccgccgtcagccaccggttcc       c.-121

 .         .         .         .         .         .                g.122203
 ttatccgtctcattccccattgtggcttggctgagccggtcgccaggcctcgctgtcctc       c.-61

 .         .         .         .         .         .         | 02    g.122366
 ctttgccttcctctctcctcagcggccgtactttgcgccgtacctcacctggcctgcag | g    c.-1

          .         .         .         .         .         .       g.122426
 ATGAAGAACCCCATGCTGGAGGTGGTGTCTTTACTACTGGAGAAGCTGCTCCTCATCTCC       c.60
 M  K  N  P  M  L  E  V  V  S  L  L  L  E  K  L  L  L  I  S         p.20

          .         .         .         .         .         .       g.122486
 AACTTCACGCTCTTTAGTTCGGGCGCCGCGGGCGAAGACAAAGGGAGGAACAGTTTTTAT       c.120
 N  F  T  L  F  S  S  G  A  A  G  E  D  K  G  R  N  S  F  Y         p.40

          .         .         .         .         .         .       g.122546
 GAAACCAGCTCTTTCCACCGAGGCGACGTGCTGGAGGTGCCCCGGACCCACCTGACCCAC       c.180
 E  T  S  S  F  H  R  G  D  V  L  E  V  P  R  T  H  L  T  H         p.60

          .         .         .         .         .         .       g.122606
 TATGGCATCTACCTAGGAGACAACCGTGTTGCCCACATGATGCCCGACATCCTGTTGGCC       c.240
 Y  G  I  Y  L  G  D  N  R  V  A  H  M  M  P  D  I  L  L  A         p.80

          .         .         .         .         .         .       g.122666
 CTGACAGACGACATGGGGCGCACGCAGAAGGTGGTCTCCAACAAGCGTCTCATCCTGGGC       c.300
 L  T  D  D  M  G  R  T  Q  K  V  V  S  N  K  R  L  I  L  G         p.100

          .         .         .         .         .         .       g.122726
 GTTATTGTCAAAGTGGCCAGCATCCGCGTGGACACAGTGGAGGACTTCGCCTACGGAGCT       c.360
 V  I  V  K  V  A  S  I  R  V  D  T  V  E  D  F  A  Y  G  A         p.120

          .         .         .         .         .         .       g.122786
 AACATCCTGGTCAATCACCTGGACGAGTCCCTCCAGAAAAAGGCACTGCTCAACGAGGAG       c.420
 N  I  L  V  N  H  L  D  E  S  L  Q  K  K  A  L  L  N  E  E         p.140

          .         .         .         .         .         .       g.122846
 GTGGCGCGGAGGGCTGAAAAGCTGCTGGGCTTTACCCCCTACAGCCTGCTGTGGAACAAC       c.480
 V  A  R  R  A  E  K  L  L  G  F  T  P  Y  S  L  L  W  N  N         p.160

          .         .         .         .         .         .       g.122906
 TGCGAGCACTTCGTGACCTACTGCAGATATGGCACCCCGATCAGTCCCCAGTCCGACAAG       c.540
 C  E  H  F  V  T  Y  C  R  Y  G  T  P  I  S  P  Q  S  D  K         p.180

  | 03       .         .         .         .         .         .    g.127083
  | TTTTGTGAGACTGTGAAGATAATTATTCGTGATCAGAGAAGTGTTCTTGCTTCAGCAGTC    c.600
  | F  C  E  T  V  K  I  I  I  R  D  Q  R  S  V  L  A  S  A  V      p.200

          .         .         .         .         .         .       g.127143
 TTGGGATTGGCGTCTATAGTCTGTACGGGCTTGGTATCATACACTACCCTTCCTGCAATT       c.660
 L  G  L  A  S  I  V  C  T  G  L  V  S  Y  T  T  L  P  A  I         p.220

          .         .         .                                     g.127176
 TTTATTCCATTCTTCCTATGGATGGCTGGCTAA                                  c.693
 F  I  P  F  F  L  W  M  A  G  X                                    p.230

          .         .         .         .         .         .       g.127236
 cttcatacccccatgtcagtgtgtgtattctgtatgtaaatatgtttatatttatagagc       c.*60

          .         .         .         .         .         .       g.127296
 atcaatcaatataagcattattgagaaaaatgtgacccgtaacactgtgttctggataaa       c.*120

          .         .         .         .         .         .       g.127356
 aatgtgattaggaatcacgcaaagtgcttactgtgtaagcccaagaacaaaggctttctg       c.*180

          .         .         .         .         .         .       g.127416
 aatcttctcaggcagttcagatttaaagcaccatccaaaccttggaaatacgacagggtg       c.*240

          .         .         .         .         .         .       g.127476
 tggtagaattcagcaatatgagaaaaccagcccctaaaatgatagccacaagagattaat       c.*300

          .         .         .         .         .         .       g.127536
 tgtgtttttttttctcctgtaatccttgtactgttcggctgaatttgaagattggaagac       c.*360

          .         .         .         .         .         .       g.127596
 ttatattgagaccagtaactttactgtaaatttactttgtttcattgaaaaaacaaattg       c.*420

          .         .         .         .         .         .       g.127656
 ataaacatattaaactggaagaattttctttattcaaatgaaaacatgtttgatgactgg       c.*480

          .         .         .         .         .         .       g.127716
 tcaaaaaataagctcataatctatttttttcatgtagtatataagtcaagaatgttttat       c.*540

          .         .         .         .         .         .       g.127776
 tgtcattatgtgaaaccaatattggcaaatagtactttaatgatgaagtaaatgaccaga       c.*600

          .         .         .         .         .         .       g.127836
 aattatagaaatctgtgttttcctgtaaaaatagcactatagtatcacttgaacaatttg       c.*660

          .         .         .         .         .         .       g.127896
 atttggctttacttactaggaagcctggaattcattatttttttccttttatgtgccact       c.*720

          .         .         .         .         .         .       g.127956
 gtggctactttaaatcactctgagaggtaaatggatataggattgaagttatgtgggtat       c.*780

          .         .         .         .         .         .       g.128016
 ttggcatgtgtgtgtgaaataaatatgtagatagtcacatatacacagactgagagataa       c.*840

          .         .         .         .         .         .       g.128076
 attgttcttgattgctttattatcatcatactagtgtgttcattatagagtatctgtaga       c.*900

          .         .         .         .         .         .       g.128136
 ggtgaatgtaaaagtaagtccaatctattttcttatgtcattgaatttgtagtgttaact       c.*960

          .         .         .         .         .         .       g.128196
 tgcatatatgttattggatgggttgtcttttaaagcatttactaatgtactctgaaattt       c.*1020

          .         .         .         .         .         .       g.128256
 ttaaaagccttcagatttgttttctagtcacttttttccatatcatttctaattatagtt       c.*1080

          .         .         .         .         .         .       g.128316
 tatatccttaaaagaaggatgccacagtagtatgtaaaacccaaacaagtagaacccaag       c.*1140

          .         .         .         .         .         .       g.128376
 caaataaaattatttaaaataattttaaagtggcttagtactgccagtcatgtaaattga       c.*1200

          .         .         .         .         .         .       g.128436
 ttctgctgagggtcttataagaattgagatataacaatggtaaaacaagcattcaagcac       c.*1260

          .         .         .         .         .         .       g.128496
 ttttacaaaattaccaaattcttaaaatgaagccacagctagacttgcatttcaggtatt       c.*1320

          .         .         .         .         .         .       g.128556
 aaaattgctttcttaactgtcaagaatcacaaaataacaaatcatattatgagtgaatat       c.*1380

          .         .         .         .         .         .       g.128616
 ggggagggcggggccaatcagtcaatgataatctgaacaaattttaagagcagattttag       c.*1440

          .         .         .         .         .         .       g.128676
 attaataatgttttatcaccactaatttgcccacaacaaactcagtatttaatttttcaa       c.*1500

          .         .         .         .         .         .       g.128736
 attaaatattaaattatttaagtattttaaataattaaaacattaaatggcaacaccata       c.*1560

          .         .         .         .         .         .       g.128796
 gaatataggtgttctctggacctattctaaccacttaaaattatcttaagtatgcataca       c.*1620

          .         .         .         .         .         .       g.128856
 taaaagcaaccactatgagaactaccgtgttagtggtttttcacttactgtatattaccc       c.*1680

          .         .         .         .         .         .       g.128916
 ttgtaggaatagtttaaggaaattcatttcttaaaaatatagtgtcctcaaataattaat       c.*1740

          .         .         .         .         .         .       g.128976
 ttttttgcaaactttagttattacaggcagcaaaaaccactgtctgaaactaaatctgtg       c.*1800

          .         .         .         .         .         .       g.129036
 ttcaaagatgaagacccctcattaaaagccaaggacgttcttaagattggaactgacata       c.*1860

          .         .         .         .         .         .       g.129096
 attagtcttgacttacttcattaaagcaagattcaattccttgttcatttgagtgttcat       c.*1920

          .         .         .         .         .         .       g.129156
 tatatgccaggcattgaccagttgcaattttatggtccagaattaatattattattcgta       c.*1980

          .         .         .         .         .         .       g.129216
 aactagctataatagagtatatacagtgctgtgggaatacaggggaagaagcaattaaat       c.*2040

          .         .         .         .         .         .       g.129276
 ctgctagaagggtaagagaaatctgtatgcaggaggcaatgctagcattaagccaagaaa       c.*2100

          .         .         .         .         .         .       g.129336
 tagtgtgaggtgatcttatcacactgatgtgttcaactgtttatgggaaaaggaaactag       c.*2160

          .         .         .         .         .         .       g.129396
 gatggttttatttgtgaaatgttctacaacgctagaactgttgaacttcttgggagaaaa       c.*2220

          .         .         .         .         .         .       g.129456
 ggagaatctttgttttgttgtgctgagtttgattagttgcttaaccaagtagaaagaaaa       c.*2280

          .         .         .         .         .         .       g.129516
 gcacatcttcctgatcacagttataaaagaaaccctgaggccgggcgcggtggctcaagc       c.*2340

          .         .         .         .         .         .       g.129576
 ctgtaaccccagcactttgggaggccaaggagggaggatcacaaggtcaggagatcgaga       c.*2400

          .         .         .         .         .         .       g.129636
 ccatcctggctaacacggtgaaaccccatctctactaaaaatacaaaattagctgggcgt       c.*2460

          .         .         .         .         .         .       g.129696
 ggtggccggcgcctgtagtcccagctactcatgaggttgaggcaggagaatggcgtgaac       c.*2520

          .         .         .         .         .         .       g.129756
 cgaggaggcggagcttgcagtgagtggaaattgcgccactgcactccagcctgggcaaca       c.*2580

          .         .         .         .         .         .       g.129816
 aagtgagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaagaagaagaaacc       c.*2640

          .         .         .         .         .         .       g.129876
 ctgagccattaatgtgtctcgtaacttgaggaagttcatgaattctctgggcttcatcca       c.*2700

          .         .         .         .         .         .       g.129936
 ttaagattcatccttatgctcctgcaagtttcttatatttatgtatttctattctgattt       c.*2760

          .         .         .         .         .         .       g.129996
 ctgaaatgataacctagtagtgtctgatgaagttttttcatgcttattttattctttgtc       c.*2820

          .         .         .         .         .         .       g.130056
 acagatgaaagaagaataggactaattggggctaagatgaattaatgtaagtgtcagata       c.*2880

          .         .         .         .         .         .       g.130116
 ctaggcaggtgttagggatgaaatgatgaatgaggcatggacctgttcctcagagtttat       c.*2940

          .         .         .         .         .         .       g.130176
 ggcccagtagacataattgtattaggactttctgcagttgacatttgcataaagctgact       c.*3000

          .         .         .         .         .         .       g.130236
 gactgaaggaacagaaagtgagacagacagatatgaccaaatttatacaaaccatgtacc       c.*3060

          .         .         .         .         .         .       g.130296
 aacacttgaaagatgggtggatattttccaggaaacagattttgggcaggacattccatg       c.*3120

          .         .         .         .         .         .       g.130356
 cactggaaatagcatgaacaaatgcatgaaaattgcctacaacatgcctggcacatagct       c.*3180

          .         .         .         .         .         .       g.130416
 gtgaggtaccctatgagttgttgacttgaaaacatggaactgcacagggcattcaggcaa       c.*3240

          .         .         .         .         .         .       g.130476
 gtgcaagtggttcaggggccagcgcagagcagagtgctgagtaaagatgtcagaaaagga       c.*3300

          .         .         .         .         .         .       g.130536
 aagcaatggtctggtacaagtcttgtatagaacaagaagtttagacttttgaacaggcaa       c.*3360

          .         .         .         .         .         .       g.130596
 tcgagatttggggttcagaaagataaatcccaaaagtatggagaacaaaggaactcattt       c.*3420

          .         .         .         .         .         .       g.130656
 taaaggactagctaagatgctcaatctctaaaaaaaaaaggatctgtattcgtgagagta       c.*3480

          .         .         .         .         .         .       g.130716
 gagagaaaggttgtttaggaagagtcaacagactttagcaaaatccttttatttgattca       c.*3540

          .         .         .         .         .         .       g.130776
 tgcataactcctgatggagtgtcaaggaagactcattcacttttctttcctgccagaaag       c.*3600

          .         .         .         .         .         .       g.130836
 ttggttcttgcaaaatagattaacttgatgactatgtgtatattggatactcctaatttt       c.*3660

          .         .         .         .         .         .       g.130896
 agctctgttagatatgtttctttctaaggacaagcaactatgtatagacttgttgtttga       c.*3720

          .         .         .         .         .         .       g.130956
 attttttttcagtatatatatgtttcttgtttttctatttttctacttcatactgttaat       c.*3780

          .         .         .         .         .         .       g.131016
 gtcaaatatcaaaaatgttttccagcaatatcaagttatggcaatggcaaaagtccttgt       c.*3840

          .         .         .         .         .         .       g.131076
 tgtagatgagaagcatataagaaatggttgccaatctttgttttgtatgatctatttaga       c.*3900

          .         .         .         .         .         .       g.131136
 gttttaaccaacctagatctgtcagctaagctaattttatatttggtatacatgcatgtc       c.*3960

          .         .                                               g.131158
 aaataaagttaattttacatac                                             c.*3982

 (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 10^th nucleotide is indicated by a "." above the sequence. The Lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th 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 variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.