sterile alpha motif domain containing 12 (SAMD12) - coding DNA reference sequence

(used for variant description)

(last modified November 5, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001101676.1 in the SAMD12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering SAMD12 transcript NM_001101676.1.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.5009
                                                    gcggcaggt       c.-121

 .         .         .         .         .         .                g.5069
 tggtcctggagcagataagcgcagaatatttaggcgaaagcgagaggaaggggggagcgc       c.-61

 .         .         .         .         .         .                g.5129
 ggggcaggaggagtacctcggccaagaaaattatgcatgcgttagggaagctctgagaga       c.-1

          .    | 02    .         .         .         .         .    g.46099
 ATGGCTGTGGAAG | CTCTCCACTGTGGTTTGAATCCACGGGGTATTGATCACCCTGCCCAT    c.60
 M  A  V  E  A |   L  H  C  G  L  N  P  R  G  I  D  H  P  A  H      p.20

          .         .         .         .         .         .       g.46159
 GCTGAAGGTATTAAACTGCAAATTGAAGGTGAAGGTGTGGAATCTCAATCCATTAAAAAT       c.120
 A  E  G  I  K  L  Q  I  E  G  E  G  V  E  S  Q  S  I  K  N         p.40

          .         .         .         .         .         .       g.46219
 AAAAATTTCCAGAAGGTGCCTGACCAGAAAGGAACTCCCAAGCGACTGCAGGCAGAAGCT       c.180
 K  N  F  Q  K  V  P  D  Q  K  G  T  P  K  R  L  Q  A  E  A         p.60

          .   | 03     .         .         .         .         .    g.187032
 GAGACGGCTAAG | TCAGCTACGGTGAAGCTATCTAAACCGGTGGCTCTATGGACCCAGCAG    c.240
 E  T  A  K   | S  A  T  V  K  L  S  K  P  V  A  L  W  T  Q  Q      p.80

          .         .         .         .         .         .       g.187092
 GATGTCTGCAAGTGGTTGAAGAAACATTGTCCGAATCAGTATCAGATCTACAGTGAGTCA       c.300
 D  V  C  K  W  L  K  K  H  C  P  N  Q  Y  Q  I  Y  S  E  S         p.100

          .         .   | 04     .         .         .         .    g.247283
 TTCAAACAGCATGACATAACTG | GGCGAGCCCTGCTGAGACTTACTGACAAAAAGCTCGAG    c.360
 F  K  Q  H  D  I  T  G |   R  A  L  L  R  L  T  D  K  K  L  E      p.120

          .         .         .         .         .         .       g.247343
 CGAATGGGGATTGCCCAGGAGAACCTCCGGCAGCACATCTTACAACAGGTGCTCCAGCTG       c.420
 R  M  G  I  A  Q  E  N  L  R  Q  H  I  L  Q  Q  V  L  Q  L         p.140

          .         .         .         .    | 05    .         .    g.429230
 AAGGTGCGAGAAGAAGTCAGAAATCTACAGTTACTCACACAAG | CATCATCTGAGGGTTCT    c.480
 K  V  R  E  E  V  R  N  L  Q  L  L  T  Q  A |   S  S  E  G  S      p.160

                                                                    g.429236
 CCATAA                                                             c.486
 P  X                                                               p.161

          .         .         .         .         .         .       g.429296
 acacggttagccttccaagctgctgtcctgccagttgatatgaacatggcctgttcctca       c.*60

          .         .         .         .         .         .       g.429356
 cagaaagactaacccatggcactgccagaagatatccttggatcgtggacagattaactg       c.*120

          .         .         .         .         .         .       g.429416
 gattaactgaaaaaagcacccattcagtcaatattatgggttttggaaaaatcttgcttt       c.*180

          .         .         .         .         .         .       g.429476
 gctgtggatttaaaatgaggtgcataatataatgccaactcattccaagtggtcattggc       c.*240

          .         .         .         .         .         .       g.429536
 agaccattagctggaaaattgcttccagttttcatcactgtgcataactcaagttccctt       c.*300

          .         .         .         .         .         .       g.429596
 tggggagctgtctgtgcccttcactagaagtcctgttttagcatggcaactactggatta       c.*360

          .         .         .         .         .         .       g.429656
 ttttattatgtgtgcagatggcatgatgttttagaaaaaaaaaattacagcaattctgca       c.*420

          .         .         .         .         .         .       g.429716
 atctcagtggaagtgttcacaatattatgccctggtaggaatgtaaacacgtctcgatta       c.*480

          .         .         .         .         .         .       g.429776
 tgttagttatgatgtctaaaggtatactgtccaactcttaagcactttatatgagaacac       c.*540

          .         .         .         .         .         .       g.429836
 tacaccaagatgaatcagcacattcagcacatgtgagaaatcaagtattttctttttatt       c.*600

          .         .         .         .         .         .       g.429896
 tttataaatcttagtggtttttttttttccggctcagactgtccaagacaaactccacta       c.*660

          .         .         .         .         .         .       g.429956
 ctcgcatatccccagttgtttgtggtaggttgatgtaaatatggccacaatactgttaga       c.*720

          .         .         .         .         .         .       g.430016
 cttcacctccagatactttattgaacaactggtttacttctagcaccaaagggaagaaga       c.*780

          .         .         .         .         .         .       g.430076
 agggggtccagtgatggtgatatcttagcttgcttctttgttcacaggcactattgacca       c.*840

          .         .         .         .         .         .       g.430136
 catgaacatacaggtactcaaatacaggaggcttctatttggctcctccaagggaggagt       c.*900

          .         .         .         .         .         .       g.430196
 tcctccaagggaaaaaaggggatggtattcttttaatcaaagaccatggtggatggatgg       c.*960

          .         .         .         .         .         .       g.430256
 taagggcaacagaatgcaattcttttgtgtggtctgacgttaacacttcggaaaaaattc       c.*1020

          .         .         .         .         .         .       g.430316
 taagtcaagttgaaatcgccattctctcaagagagaaacatcaagagagaaacatcaagt       c.*1080

          .         .         .         .         .         .       g.430376
 gaccccactatgtgcctagagaaggaaaagggtcaagtcctatactaggttccttactta       c.*1140

          .         .         .         .         .         .       g.430436
 gggtagaacctactagtcccttgttaatcctttctgggattatacctgtgactaattttt       c.*1200

          .         .         .         .         .         .       g.430496
 ttttttttaactatgtcttacgacaaagcacagtcctgggaaaccagtcaacttaattat       c.*1260

          .         .         .         .         .         .       g.430556
 tgcttgtctttgagcattagagacatgttcatattgacttgctacataacactgtagcat       c.*1320

          .         .         .         .         .         .       g.430616
 gttttttcctgaaaatatcaagttggttgaatggaaagctcagcaaagtatgttctgtgt       c.*1380

          .         .         .         .         .         .       g.430676
 gcccactgtcccagcctgggactgacgggcatcagaggctttgctttaaaatatgggtaa       c.*1440

          .         .         .         .         .         .       g.430736
 ccagttctggaagacttccaacgcaagcaagcttggtgttttagggtgtctccagataca       c.*1500

          .         .         .         .         .         .       g.430796
 taagcattgtctgcctccgctcagggtctcaggaaatacacagcccattggaaaccaccc       c.*1560

          .         .         .         .         .         .       g.430856
 acgcctgagatttggaaacctgacggaaagggaggaaggtccaaatgagtcagcagcagg       c.*1620

          .         .         .         .         .         .       g.430916
 atgactcaccacaagcctggcaggctgcagagccagagaagggggcttccaacaaggaac       c.*1680

          .         .         .         .         .         .       g.430976
 tcagagaagttgcagtcaccaccaagatctggcccttcggcaggtcagcaccaggactgc       c.*1740

          .         .         .         .         .         .       g.431036
 caggccctctgcagaccgtaattctcttcacatctataattaggaggccaaactccagct       c.*1800

          .         .         .         .         .         .       g.431096
 gccaacacccttggacacaatattccagtctccactgcccatctcatgtggttcagttct       c.*1860

          .         .         .         .         .         .       g.431156
 aatagcaggtcttcttcttcctttcattccttcctttattcagcaagcatttgttgagca       c.*1920

          .         .         .         .         .         .       g.431216
 tctactatgtgccaagcattgtgcttgggcaacaacagtccacaaagcagactccccacc       c.*1980

          .         .         .         .         .         .       g.431276
 tgcccttatgaaactgtatctcctcctccccaacattatcaccaccccaccatttccaca       c.*2040

          .         .         .         .         .         .       g.431336
 atgaaaactgaattcagacagcattctccattctgccagagtaacctaggaagaagaaca       c.*2100

          .         .         .         .         .         .       g.431396
 tggcagcagacggatcctcagggaggaggcagcagagtgacagatggtaaactgcatcag       c.*2160

          .         .         .         .         .         .       g.431456
 gccacatatttgcacctttcagatacagccaactcttccagggcctagactgagctggtt       c.*2220

          .         .         .         .         .         .       g.431516
 ggagctccccaaagcagcattcagttgcttttccttgatatccaccctggctacctatat       c.*2280

          .         .         .         .         .         .       g.431576
 tccctttctttatataggcacaaccattcaccactacgctggattatctaacactccaat       c.*2340

          .         .         .         .         .         .       g.431636
 tctataactcatccaggggacacacagttgagtctgatgaagcctaagaactgccaggtg       c.*2400

          .         .         .         .         .         .       g.431696
 ctgagatattgtaactgggaattaagatttagccaaggacattgtgagactactgctgac       c.*2460

          .         .         .         .         .         .       g.431756
 tctcttggaaaactggacatgctttgtagtgcaaatgttcactaaatgatggtggttcat       c.*2520

          .         .         .         .         .         .       g.431816
 tgttacttactttggcctttgcaaaatattctgaacaattcaataagtagagtttcctag       c.*2580

          .         .         .         .         .         .       g.431876
 tttgtttgtttttttaagtcaaaggaacgctgtgaaattattgaaagatgatgggtgaag       c.*2640

          .         .         .         .         .         .       g.431936
 agggacctaggagaaggcaaaatgaagaccattaaagagccccattgaagactgtatctc       c.*2700

          .         .         .         .         .         .       g.431996
 taaaaatgccttaatgcctggcacatattccatatttgcatatgaactactattcttttc       c.*2760

          .         .         .         .         .         .       g.432056
 caaactgtcaacttctgtttgaaatcattgtgggggatagtttggaaatatggtggcata       c.*2820

          .         .         .         .         .         .       g.432116
 aaatccaagcagtcaagagctaaaccagcaaaaaagaggaatgacttcattcacaggctt       c.*2880

          .         .         .         .         .         .       g.432176
 tggcttctttattatgtggtggtcctctgtgatctcccatggttaacttcaactgtgctg       c.*2940

          .         .         .         .         .         .       g.432236
 tactttcttcccaagatgcatgtacggaatgttacctcctagaaatccagaaatagttgt       c.*3000

          .         .         .         .         .         .       g.432296
 ggtgagttttgtttgataggaagcaagaggtggggaagtaaaggatacatatttttatgt       c.*3060

          .         .         .         .         .         .       g.432356
 ctaaggactgtaaactgttgatgcttgacttttccttttacctacacctgtgctacacct       c.*3120

          .         .         .         .         .         .       g.432416
 ttattaaaaggctgacacccagacttgtgcaggaaaggcactcttgggaatgaacagaaa       c.*3180

          .         .         .         .         .         .       g.432476
 tgaataattatgagactttccatggtgccaaggggattcgcttatttccactccagaact       c.*3240

          .         .         .         .         .         .       g.432536
 gaatatgcagagcattgccagtcctgctagtgtgaaaagcaaattacttcaatagtttga       c.*3300

          .         .         .         .         .         .       g.432596
 gacgtacctaggggaagagagatcctatcaactttctttgcgggtagtggcgtaccttca       c.*3360

          .         .         .         .         .         .       g.432656
 aatccttgctcaggctctgtgaggtgtgcacccgcagatttcacttctacctccggaatc       c.*3420

          .         .         .         .         .         .       g.432716
 ctggcaaacaagccaggaatctctccagagtcacttcgcagttgctcagaaagaggctaa       c.*3480

          .         .         .         .         .         .       g.432776
 cggtccttagtcctgaggaaattctgccatttttaacattcaaggagaaaaggcgtatca       c.*3540

          .         .         .         .         .         .       g.432836
 gctgtacgtgagaatatcaactaaggataaaaacctctaatggatcccccttgttacttg       c.*3600

          .         .         .         .         .         .       g.432896
 caaatgctttctttgtctgcaaatgtcacataattgattttgcataggaacaacaaaagt       c.*3660

          .         .         .         .         .         .       g.432956
 ctcaaggaattgaagtttttaataccccccttagcactttactttcaccaaaacctcctc       c.*3720

          .         .         .         .         .         .       g.433016
 tttctagtacatgagcagttttgttctttgtgatgttttcctctacattctttagaataa       c.*3780

          .         .         .         .         .         .       g.433076
 ttttgttacttgacaactagacttgtcaatcgtcttagactcttttgaaaaatctaatct       c.*3840

          .         .         .         .         .         .       g.433136
 ttgaaaatgacacaaattcctttattgctttaaggctgttttcattcacccctcccacag       c.*3900

          .         .         .         .         .         .       g.433196
 ccccctccactgcacttttttgttttttgcggggatttttttctttcatctctcttcttt       c.*3960

          .         .         .         .         .         .       g.433256
 taacatgatgctgtgggtagttttcaagaattctataaagaactcaacaaaaagtgtatt       c.*4020

          .         .         .         .         .         .       g.433316
 tgttacctttttccccagtcctaatatttcttcttaagcttgatcttggtgaaaatttgt       c.*4080

          .         .         .         .         .         .       g.433376
 tgcccaaaaagcagtgaggtagggattaataacgctgaccagtcatctggaagattaatt       c.*4140

          .         .         .         .         .         .       g.433436
 aatcccagtgcagccctgagatcaggaaggaggacaggccaggagatgtttctactccag       c.*4200

          .         .         .         .         .         .       g.433496
 gcaccactaaggactctatttcaaaggcagatcctgctccttagtctttttagatctgaa       c.*4260

          .         .         .         .         .         .       g.433556
 tctaatcctgaatccagaaaattatcctatgaattctggtttatcaacgcacatgattcc       c.*4320

          .         .         .         .         .         .       g.433616
 tggcaccattgcatagcttcaaggtaaaagagagccttgtttccattattttgctatggt       c.*4380

          .         .         .         .         .         .       g.433676
 ggcttttgggaagacagagagcattcttttgaaagcgggaaacttaaggaaaagttggcc       c.*4440

          .         .         .         .         .         .       g.433736
 aagtacacaggaaagttctaccacaccttaatataaagaacaaaatagatgcttctcatt       c.*4500

          .         .         .         .         .         .       g.433796
 tggggaaagtagctaaaaggacagtaacagtactgatggccttctgtccatcaccttagc       c.*4560

          .         .         .         .         .         .       g.433856
 tccacagggaaaattctgggtgagagcaagcactgtttctaaaatctaaattttttcagg       c.*4620

          .         .         .         .         .         .       g.433916
 tgaaatttaccagcaacaaatgtaaaagggaactgccatcaggcatagggctagttttat       c.*4680

          .         .         .         .         .         .       g.433976
 acttcctgcctaacggcaaaatgactgagacatgacttccatggaacagcagaaaatgga       c.*4740

          .         .         .         .         .         .       g.434036
 tgccaaagatatcataaaactgaagttcaatttgccacgtaaggctatttaaaaaccctg       c.*4800

          .         .         .         .         .         .       g.434096
 atgcactccaagcattcttccttcagagctttcctcctacaattatatcaagcacaagaa       c.*4860

          .         .         .         .         .         .       g.434156
 ggcaccaacagcatatacttaatgtaatgtaaaagtaaacatatgacttgtgttgaatta       c.*4920

          .         .         .         .         .         .       g.434216
 ccattggctggttgacataataagtgtcatagatatttagacattatttctgatcataca       c.*4980

          .         .         .         .         .         .       g.434276
 aaattattttcataatttcatattcttttcaattttcataaattcttttcaattttcata       c.*5040

          .         .         .         .         .         .       g.434336
 aattggagccaatggtttgggaggttttttgtttgtttgtttgtttggttggttggttat       c.*5100

          .         .         .         .         .         .       g.434396
 ttgttgcgttgttgttttccaaacctcagatattttgagaagccttagaaaggctcttaa       c.*5160

          .         .         .         .         .         .       g.434456
 gcccaggcctttttgcctcatgtgcagagtattaataacagccctactgatgtgaacctc       c.*5220

          .         .         .         .         .         .       g.434516
 aaggaaggaggctattaaattaatccatcactggagatactaatacctcaaacaattaaa       c.*5280

          .         .         .         .         .         .       g.434576
 acactgaagactctgctggttgccttccacattgtttataacctttttaaattcagtcat       c.*5340

          .         .         .         .         .         .       g.434636
 ttggatcaagagaaataaatggttggtttcatatggcttttgccacattagcacagacac       c.*5400

          .         .         .         .         .         .       g.434696
 atctaccaaatgtagaagtccagactgagtggatgcatgagagcaaacagatctgtaata       c.*5460

          .         .         .         .         .         .       g.434756
 tgattgcatttaatcaccgccaccgcccaaattctgtaaaaatatattcaaatatgtaat       c.*5520

          .         .         .         .         .         .       g.434816
 gctaaaaaaaatgcaaaacaggagactcttactagatcatgctttcacttagggtaggat       c.*5580

          .         .         .         .         .         .       g.434876
 aactgatcttgaagataacttcatagaaaaatttgctggctgaaatgccccaggcacctc       c.*5640

          .         .         .         .         .         .       g.434936
 agggttggtcctgtcctattccacaaactgatcatggtcttctcccatcttctcagagga       c.*5700

          .         .         .         .         .         .       g.434996
 gttagccttgcctctaaaatagcaaaaatgccatgaaattatctttctaacctctataga       c.*5760

          .         .         .         .         .         .       g.435056
 gacttcttatccaagtataattccaaaaatatgatttgagtttgagcatgcctgtggtcc       c.*5820

          .         .         .         .         .         .       g.435116
 ttgattctatgatccctaaatcagttctacttttctcactctctctctctctctctctct       c.*5880

          .         .         .         .         .         .       g.435176
 ctctctctctctctctctatatatatatatatatatatatatatatatatatatatatat       c.*5940

          .         .         .         .         .         .       g.435236
 atatatatatataatctccagtattttttttcaaccacaatttagtgcatttagcgtgtt       c.*6000

          .         .         .         .         .         .       g.435296
 aatgttgggaactgcctgctggctctatgtctacttttgacaatgcttatgtccagatac       c.*6060

          .         .         .         .         .         .       g.435356
 catacagtgcatttgagagaggaccaaggttatgttttcccacataccagctgctgcaga       c.*6120

          .         .         .         .         .         .       g.435416
 ggtttcgaagtgcctgacccagttctttttcacatcaaaaaggccttcggttgcagatgg       c.*6180

          .         .         .         .         .         .       g.435476
 aaaccttaaagatgaatgtagagtggggtaggaaattcatgtttgaatgctgaaaccctt       c.*6240

          .         .         .         .         .         .       g.435536
 gtcttttttagttttattcaattcccacctcagatcaccagaaagggaggcctctttggt       c.*6300

          .         .         .         .         .         .       g.435596
 gggtgttggccctcactgggggtaaaaggggttctatttgcttaaactcatgctcgtagg       c.*6360

          .         .         .         .         .         .       g.435656
 caattttagggctctctggggctctgaatggtttctccaccaccacctttcttccaccaa       c.*6420

          .         .         .         .         .         .       g.435716
 tagaaagatgttgtccttacaaggccatgtctgagaagaccatggtttaactagtaaaag       c.*6480

          .         .         .         .         .         .       g.435776
 aagctcacattgcagagagctgaataataccaggctcttgactttgtactgtgtgtcaca       c.*6540

          .         .         .         .         .         .       g.435836
 gtcatgattgggacagaaggaaccagtctgctgaaaagtcaagccagcacaaatatttgg       c.*6600

          .         .         .         .         .         .       g.435896
 aaactaattccactgaaactcttgtatcattaaatcatactattgtagtttcagttaatg       c.*6660

          .         .         .         .         .         .       g.435956
 taattatttaatatcaggcactaaattaaatagctttgcacaaaattttagaaaagatca       c.*6720

          .         .         .         .         .         .       g.436016
 atcttgtaacaaaatttaatattaacagtaaaaagcacctgagaaaagaaaatatcgatc       c.*6780

          .         .         .         .         .         .       g.436076
 tgttgtggtttatatacttgagttattcttagaactttgtggagattgacactgctctga       c.*6840

          .         .         .         .         .         .       g.436136
 taaaaaggaagaaaatgttttgaattcaagaatgctagactaatagaaatagcccagtct       c.*6900

          .         .         .         .         .         .       g.436196
 ctctgggccactgctcttcagtatggggtgctctctgtccctccttagcagatggggttg       c.*6960

          .         .         .         .         .         .       g.436256
 tttggaggctaaaatgagctaagggaagaagctatactgtgcctccaatatcccttatgt       c.*7020

          .         .         .         .         .         .       g.436316
 gtaattagagtgccgatctgggctgcaggctttattcaatgattcctttcccttacttga       c.*7080

          .         .         .         .         .         .       g.436376
 ggctttctctgtagagctgttatttctgagcctccattctgggatttacaaaggaaacag       c.*7140

          .         .         .         .         .         .       g.436436
 aatgatgaagaagtaacaatcagcattttacacacacgcacacacacacacacacacaca       c.*7200

          .         .         .         .         .         .       g.436496
 ctttttctaatatatgaggctagtctgcagagtccacagcccaggtgtccatttatttcc       c.*7260

          .         .         .         .         .         .       g.436556
 acttcttcacctcccaaagatttagagctccatgatctaccaaggtgaagactgccaatc       c.*7320

          .         .         .         .         .         .       g.436616
 ccaggttggagaagacccgtcagagtgtggaggtgccaaactgagaggcacaggaagcag       c.*7380

          .         .         .         .         .         .       g.436676
 acagccacatcaaacttttttgatgaactactgcaaattggtgtttgttctaggaaagaa       c.*7440

          .         .         .         .         .         .       g.436736
 agaggaagaaaaattacacaatgtgaattgaacataagagcagtgctctttacagagtat       c.*7500

          .         .         .         .         .         .       g.436796
 gagaagggaggatgggggagaatctgattaaaaaaatgattcattccttcacagacacta       c.*7560

          .         .         .         .         .         .       g.436856
 acaaacatggctaaaaagcacatgtcagaacacagaagcctaggtagatggttgacattt       c.*7620

          .         .         .         .         .         .       g.436916
 ttataacttccttaagtgagtagttaaaccagcagtcttaattctgttggtcttccaaga       c.*7680

          .         .         .         .         .         .       g.436976
 gtgtttaattacataagtattacctgtattcatttcccacaactgttgggtttttctttc       c.*7740

          .         .         .         .         .         .       g.437036
 tttttttttttttttttttttttcctctgtgcatcctagaaaaactcccaggactagact       c.*7800

          .         .         .         .         .         .       g.437096
 taggaggaggcaatcaagttatgtggtaaaacaagagtgccttttctgttggatatccac       c.*7860

          .         .         .         .         .         .       g.437156
 tttagtttcctggcttccagggcataagatgtttagaaactttttttctctaaacataag       c.*7920

          .         .         .         .         .         .       g.437216
 aattattgtgtaccacaattttgaaccaccgatttccatatcttcagcagctatcaactt       c.*7980

          .         .         .         .         .         .       g.437276
 gccaattccctttgggtctcctttgtatattcttatgtttccttctgtttccagttgtcc       c.*8040

          .         .         .         .         .         .       g.437336
 tcaaaaagagttgaggggggcatgactcttataaaatggataaaaatgaaactgtacaga       c.*8100

          .         .         .         .         .         .       g.437396
 tgtttgcctcccttgtatctgtgagcatgatctctatcaggctggaaaatctgctttatc       c.*8160

          .         .         .         .         .         .       g.437456
 attttgtatatttgactattttgtattcagcattacttgactccttatgtgcatggcaat       c.*8220

          .         .         .                                     g.437491
 gtattaaaatgtgggatttctattaccgtgtaaaa                                c.*8255

 (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 Sterile alpha motif domain containing 12 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.