membrane-spanning 4-domains, subfamily A, member 1 (MS4A1) - coding DNA reference sequence

(used for mutation description)

(last modified May 2, 2014)

This file was created to facilitate the description of sequence variants in the MS4A1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000011.9, covering MS4A1 transcript NM_152866.2.

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

 (upstream sequence)
           .         .         .         .         .                g.1056
     gtctatcagcgatttcatcttcaggcctggactacaccactcaccctcccagtgtg       c.-361

 .         .         .         .         .         .                g.1116
 cttgagaaacaaactgcacccactgaactccgcagctagcatccaaatcagcccttgaga       c.-301

 .         .         . | 02       .         .         .             g.6302
 tttgaggccttggagactcag | atcctgaacaagagagaacaaaatctctactttgatgga    c.-241

 .         .         .         .         .          | 03            g.7386
 acttccattctgtggggaagagactgacaataagcaattaaataaataag | aactcagcag    c.-181

 .         .         .         .         .         .                g.7446
 taggccttgcctcagatccaaggtcactcggaagaggccatgtctaccctcaatgacact       c.-121

 .         .         .         .         .         .                g.7506
 catggaggaaatgctgagagaagcattcagatgcatgacacaaggtaagactgccaaaaa       c.-61

 .         .         .         .         .         .                g.7566
 tcttgttcttgctctcctcattttgttatttgttttatttttaggagttttgagagcaaa       c.-1

          .         .         .         .         .         .       g.7626
 ATGACAACACCCAGAAATTCAGTAAATGGGACTTTCCCGGCAGAGCCAATGAAAGGCCCT       c.60
 M  T  T  P  R  N  S  V  N  G  T  F  P  A  E  P  M  K  G  P         p.20

          .         .         .         .         .         .       g.7686
 ATTGCTATGCAATCTGGTCCAAAACCACTCTTCAGGAGGATGTCTTCACTGGTGGGCCCC       c.120
 I  A  M  Q  S  G  P  K  P  L  F  R  R  M  S  S  L  V  G  P         p.40

          .         .         .          | 04        .         .    g.8214
 ACGCAAAGCTTCTTCATGAGGGAATCTAAGACTTTGGGG | GCTGTCCAGATTATGAATGGG    c.180
 T  Q  S  F  F  M  R  E  S  K  T  L  G   | A  V  Q  I  M  N  G      p.60

          .         .         .         .         .         .       g.8274
 CTCTTCCACATTGCCCTGGGGGGTCTTCTGATGATCCCAGCAGGGATCTATGCACCCATC       c.240
 L  F  H  I  A  L  G  G  L  L  M  I  P  A  G  I  Y  A  P  I         p.80

          .         .         .          | 05        .         .    g.9500
 TGTGTGACTGTGTGGTACCCTCTCTGGGGAGGCATTATG | TATATTATTTCCGGATCACTC    c.300
 C  V  T  V  W  Y  P  L  W  G  G  I  M   | Y  I  I  S  G  S  L      p.100

          .         .         .       | 06 .         .         .    g.11136
 CTGGCAGCAACGGAGAAAAACTCCAGGAAGTGTTTG | GTCAAAGGAAAAATGATAATGAAT    c.360
 L  A  A  T  E  K  N  S  R  K  C  L   | V  K  G  K  M  I  M  N      p.120

          .         .         .         .         .         .       g.11196
 TCATTGAGCCTCTTTGCTGCCATTTCTGGAATGATTCTTTCAATCATGGACATACTTAAT       c.420
 S  L  S  L  F  A  A  I  S  G  M  I  L  S  I  M  D  I  L  N         p.140

          .         .         .         .         .         .       g.11256
 ATTAAAATTTCCCATTTTTTAAAAATGGAGAGTCTGAATTTTATTAGAGCTCACACACCA       c.480
 I  K  I  S  H  F  L  K  M  E  S  L  N  F  I  R  A  H  T  P         p.160

          .         .         .         .         .         .       g.11316
 TATATTAACATATACAACTGTGAACCAGCTAATCCCTCTGAGAAAAACTCCCCATCTACC       c.540
 Y  I  N  I  Y  N  C  E  P  A  N  P  S  E  K  N  S  P  S  T         p.180

          .         .         .    | 07    .         .         .    g.12177
 CAATACTGTTACAGCATACAATCTCTGTTCTTG | GGCATTTTGTCAGTGATGCTGATCTTT    c.600
 Q  Y  C  Y  S  I  Q  S  L  F  L   | G  I  L  S  V  M  L  I  F      p.200

          .         .         .         .         .         .       g.12237
 GCCTTCTTCCAGGAACTTGTAATAGCTGGCATCGTTGAGAATGAATGGAAAAGAACGTGC       c.660
 A  F  F  Q  E  L  V  I  A  G  I  V  E  N  E  W  K  R  T  C         p.220

          .      | 08  .         .         .         .         .    g.13486
 TCCAGACCCAAATCT | AACATAGTTCTCCTGTCAGCAGAAGAAAAAAAAGAACAGACTATT    c.720
 S  R  P  K  S   | N  I  V  L  L  S  A  E  E  K  K  E  Q  T  I      p.240

          .         .         .         .         .         .       g.13546
 GAAATAAAAGAAGAAGTGGTTGGGCTAACTGAAACATCTTCCCAACCAAAGAATGAAGAA       c.780
 E  I  K  E  E  V  V  G  L  T  E  T  S  S  Q  P  K  N  E  E         p.260

          .         .         .         .         .         .       g.13606
 GACATTGAAATTATTCCAATCCAAGAAGAGGAAGAAGAAGAAACAGAGACGAACTTTCCA       c.840
 D  I  E  I  I  P  I  Q  E  E  E  E  E  E  T  E  T  N  F  P         p.280

          .         .         .         .         .                 g.13660
 GAACCTCCCCAAGATCAGGAATCCTCACCAATAGAAAATGACAGCTCTCCTTAA             c.894
 E  P  P  Q  D  Q  E  S  S  P  I  E  N  D  S  S  P  X               p.297

          .         .         .         .         .         .       g.13720
 gtgatttcttctgttttctgtttccttttttaaacattagtgttcatagcttccaagaga       c.*60

          .         .         .         .         .         .       g.13780
 catgctgactttcatttcttgaggtactctgcacatacgcaccacatctctatctggcct       c.*120

          .         .         .         .         .         .       g.13840
 ttgcatggagtgaccatagctccttctctcttacattgaatgtagagaatgtagccattg       c.*180

          .         .         .         .         .         .       g.13900
 tagcagcttgtgttgtcacgcttcttcttttgagcaactttcttacactgaagaaaggca       c.*240

          .         .         .         .         .         .       g.13960
 gaatgagtgcttcagaatgtgatttcctactaacctgttccttggataggctttttagta       c.*300

          .         .         .         .         .         .       g.14020
 tagtatttttttttgtcattttctccatcaacaaccagggagactgcacctgatggaaaa       c.*360

          .         .         .         .         .         .       g.14080
 gatatatgactgcttcatgacattcctaaactatcttttttttattccacatctacgttt       c.*420

          .         .         .         .         .         .       g.14140
 ttggtggagtcccttttgcatcattgttttaaggatgataaaaaaaaataacaactaggg       c.*480

          .         .         .         .         .         .       g.14200
 acaatacagaacccattccatttatctttctacagggctgacattgtggcacattcttag       c.*540

          .         .         .         .         .         .       g.14260
 agttaccacaccccatgagggaagctctaaatagccaacacccatctgttttttgtaaaa       c.*600

          .         .         .         .         .         .       g.14320
 acagcatagcttatacatggacatgtctctgccttaacttttcctaactcccactctagg       c.*660

          .         .         .         .         .         .       g.14380
 ctattgtttgcatgtctacctacttttagccattatgcgagaaaagaaaaaaatgaccat       c.*720

          .         .         .         .         .         .       g.14440
 agaaaatgccaccatgaggtgcccaaatttcaaataataattaacatttagttatattta       c.*780

          .         .         .         .         .         .       g.14500
 taatttccagatgacaaagtatttcatcaaataacttcatttgatgttccatgatcaaga       c.*840

          .         .         .         .         .         .       g.14560
 aagaatccctatctctattttacaagtaattcaaagaggccaaataacttgtaaacaaga       c.*900

          .         .         .         .         .         .       g.14620
 aaaggtaacttgtcaacagtcataactagtaattatgagagccttgtttcataaccaggt       c.*960

          .         .         .         .         .         .       g.14680
 cttcttactcaaatcctgtgatgtttgaaataaccaaattgtctctccaatgtctgcata       c.*1020

          .         .         .         .         .         .       g.14740
 aactgtgagagccaagtcaacagcttttatcaagaatttactctctgaccagcaataaac       c.*1080

          .         .         .         .         .         .       g.14800
 aagcactgagagacacagagagccagattcagattttacccatggggataaaaagactca       c.*1140

          .         .         .         .         .         .       g.14860
 gactttcaccacatttggaaaactacttgcatcataaatatataataactggtagtttat       c.*1200

          .         .         .         .         .         .       g.14920
 atgaagcagacactaagtgctatagacactctcagaatatcatacttggaaacaatgtaa       c.*1260

          .         .         .         .         .         .       g.14980
 ttaaaatgccgaatctgagtcaacagctgccctacttttcaattcagatatactagtacc       c.*1320

          .         .         .         .         .         .       g.15040
 ttacctagaaataatgttaacctagggtgaagtcactataatctgtagtctattatttgg       c.*1380

          .         .         .         .         .         .       g.15100
 gcatttgctacatgatgagtgctgccagattgtggcaggtaaagagacaatgtaatttgc       c.*1440

          .         .         .         .         .         .       g.15160
 actccctatgatatttctacatttttagcgaccactagtggaagacattccccaaaatta       c.*1500

          .         .         .         .         .         .       g.15220
 gaaaaaaaggagatagaagatttctgtctatgtaaagttctcaaaatttgttctaaatta       c.*1560

          .         .         .         .         .         .       g.15280
 ataaaactatctttgtgttcttttctgcaacagatgattccaacatgggtgtttgtctat       c.*1620

          .         .         .         .         .         .       g.15340
 tcttctttactcttgaaacattagaccatgggaggctcttacagccttgagttgatattt       c.*1680

          .         .         .         .         .         .       g.15400
 atacaacccaaatctaggtttgaacggtgaggtgtcaggtcatcaaatattcatgtctat       c.*1740

          .         .         .         .         .         .       g.15460
 atagtcttacacaggttctcaaaaaaaatgttcatgggataggtcattgataatggattc       c.*1800

          .         .         .         .         .         .       g.15520
 cttattctgagaactccagacgactgaaatatatgagagaaggaaaaggacatagtagga       c.*1860

          .         .         .         .         .         .       g.15580
 gcaggcctgagaaaaaaatgaaagtcagaaatctttaaaaaaatacaagatcttatttct       c.*1920

          .         .         .         .         .         .       g.15640
 atcttattttttctcctcttctgaaatatatatgaggattcctctccaaacccatggttt       c.*1980

          .         .         .         .         .         .       g.15700
 ctctaagaattttgagtcatttgtatgacctcaaataattagttttagctgacctcacat       c.*2040

          .         .         .         .         .         .       g.15760
 aactccttataataggagacatctttaatgtctgctattaaagaaggatgaaaattccta       c.*2100

          .         .         .         .         .         .       g.15820
 tgaccttctccccgattatccctttggcaatatagagtcaaataataacattgaccaata       c.*2160

          .         .         .         .         .         .       g.15880
 gtaaacatgctttgccaagaagtagaagatatattctctagccttagtttttcctcccaa       c.*2220

          .         .         .         .         .         .       g.15940
 tttgcatttttgtaaaaataatgttgtatccacaaaggaaataaactttaaaaacccaag       c.*2280

                                                                    g.15944
 tgca                                                               c.*2284

 (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 Membrane-spanning 4-domains, subfamily A, member 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 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.