muscular LMNA-interacting protein (MLIP) - coding DNA reference sequence

(used for variant description)

(last modified January 19, 2023)

This file was created to facilitate the description of sequence variants on transcript NM_138569.2 in the MLIP gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000006.11, covering MLIP transcript NM_138569.2.

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

 (upstream sequence)
           .         .         .         .         .                g.5053
        acaacttggaatgtcctgcaatatctaacatgtaagcacgtcgaatcattttc       c.-61

 .         .         .         .         .         .                g.5113
 tagacagaatctgaacctctgtgtctctcagtctttctctctttctcattctctttcaat       c.-1

          .         .         .         .         .         .       g.5173
 ATGGAACTTGAAAAGCGTGAAAAAAGAAGCTTATTAAACAAGAATTTAGAGGAGAAACTG       c.60
 M  E  L  E  K  R  E  K  R  S  L  L  N  K  N  L  E  E  K  L         p.20

     | 02    .         .         .         .         .         .    g.107588
 ACG | GTCTCTGCTGGTGGTTCTGAAGCCAAACCTCTGATCTTCACATTTGTCCCCACTGTC    c.120
 T   | V  S  A  G  G  S  E  A  K  P  L  I  F  T  F  V  P  T  V      p.40

          .         .         .         .         .         .       g.107648
 AGAAGACTACCAACCCATACTCAGTTGGCTGACACCTCTAAATTCCTTGTTAAAATTCCA       c.180
 R  R  L  P  T  H  T  Q  L  A  D  T  S  K  F  L  V  K  I  P         p.60

          .         .         .          | 03        .         .    g.110578
 GAAGAATCAAGTGATAAGAGTCCAGAAACTGTAAATAGG | TCTAAATCCAATGACTACTTG    c.240
 E  E  S  S  D  K  S  P  E  T  V  N  R   | S  K  S  N  D  Y  L      p.80

          .         .         .         .         .         .       g.110638
 ACCTTGAATGCTGGGAGCCAACAAGAGAGAGACCAAGCGAAATTGACTTGTCCTTCAGAG       c.300
 T  L  N  A  G  S  Q  Q  E  R  D  Q  A  K  L  T  C  P  S  E         p.100

          .         .         .         .         .         .       g.110698
 GTCAGTGGAACGATTTTACAAGAAAGGGAATTCGAAGCAAACAAACTTCAAGGGATGCAG       c.360
 V  S  G  T  I  L  Q  E  R  E  F  E  A  N  K  L  Q  G  M  Q         p.120

          .         .         .         .         .         .       g.110758
 CAAAGTGACCTCTTCAAAGCTGAATATGTCCTTATTGTGGACTCCGAAGGGGAAGATGAG       c.420
 Q  S  D  L  F  K  A  E  Y  V  L  I  V  D  S  E  G  E  D  E         p.140

          .         .         .         .         .         .       g.110818
 GCTGCAAGCAGAAAAGTTGAACAAGGCCCCCCAGGGGGGATTGGCACCGCAGCTGTCCGG       c.480
 A  A  S  R  K  V  E  Q  G  P  P  G  G  I  G  T  A  A  V  R         p.160

          .         .         .         .         .         .       g.110878
 CCCAAGTCTCTAGCTATCTCGTCCAGTCTGGTCTCTGATGTAGTGCGTCCCAAAACACAG       c.540
 P  K  S  L  A  I  S  S  S  L  V  S  D  V  V  R  P  K  T  Q         p.180

          .         .         .         .         .         .       g.110938
 GGGACTGATCTCAAGACCTCATCACATCCTGAAATGCTTCATGGGATGGCCCCTCAGCAA       c.600
 G  T  D  L  K  T  S  S  H  P  E  M  L  H  G  M  A  P  Q  Q         p.200

          .   | 04     .         .         .         .         .    g.135188
 AAGCATGGGCAG | CAATACAAGACCAAGTCAAGCTACAAGGCTTTTGCAGCAATCCCTACA    c.660
 K  H  G  Q   | Q  Y  K  T  K  S  S  Y  K  A  F  A  A  I  P  T      p.220

          .         .     | 05   .         .         .         .    g.146487
 AACACATTGCTTTTGGAACAGAAG | GCACTAGATGAACCAGCCAAGACTGAAAGTGTCTCC    c.720
 N  T  L  L  L  E  Q  K   | A  L  D  E  P  A  K  T  E  S  V  S      p.240

          .         .         . | 06       .         .         .    g.146630
 AAGGACAACACATTAGAACCACCAGTGGAG | CTCTATTTTCCTGCACAGCTCAGGCAGCAA    c.780
 K  D  N  T  L  E  P  P  V  E   | L  Y  F  P  A  Q  L  R  Q  Q      p.260

          .         .         .         .         .     | 07   .    g.146830
 ACTGAAGAGCTCTGTGCTACCATTGATAAGGTCTTACAGGATTCCTTGTCTATG | CATTCT    c.840
 T  E  E  L  C  A  T  I  D  K  V  L  Q  D  S  L  S  M   | H  S      p.280

          .         .         .         .         .     | 08   .    g.155618
 TCTGATTCTCCTTCAAGGTCCCCAAAGACATTGTTGGGTTCTGACACAGTCAAA | ACTCCT    c.900
 S  D  S  P  S  R  S  P  K  T  L  L  G  S  D  T  V  K   | T  P      p.300

          .         .         .          | 09        .         .    g.175975
 ACAACTCTTCCAAGAGCAGCTGGTCGAGAAACCAAATAT | GCAAATCTCTCCTCACCATCT    c.960
 T  T  L  P  R  A  A  G  R  E  T  K  Y   | A  N  L  S  S  P  S      p.320

          .         .     | 10   .         .         .         .    g.188225
 TCTACAGTATCTGAGAGTCAGCTG | ACTAAGCCTGGAGTAATTCGCCCAGTACCTGTAAAA    c.1020
 S  T  V  S  E  S  Q  L   | T  K  P  G  V  I  R  P  V  P  V  K      p.340

          .         .         .         .         .         .       g.188285
 TCCAGAATATTACTGAAAAAAGAGGAGGAAGTCTATGAACCCAACCCTTTCAGTAAATAC       c.1080
 S  R  I  L  L  K  K  E  E  E  V  Y  E  P  N  P  F  S  K  Y         p.360

          .         .         .    | 11    .         .         .    g.216825
 TTGGAAGATAACAGCGACCTCTTTTCTGAACAG | GATGTAACAGTCCCTCCCAAGCCTGTC    c.1140
 L  E  D  N  S  D  L  F  S  E  Q   | D  V  T  V  P  P  K  P  V      p.380

          .         .         .         .         .         .       g.216885
 TCGCTCCATCCTTTATATCAGACTAAACTCTATCCTCCTGCTAAGTCACTGCTGCATCCA       c.1200
 S  L  H  P  L  Y  Q  T  K  L  Y  P  P  A  K  S  L  L  H  P         p.400

          .         .         .         .         .         .       g.216945
 CAGACCCTCTCACATGCTGACTGTCTTGCCCCAGGACCCTTCAGTCATCTGTCCTTCTCC       c.1260
 Q  T  L  S  H  A  D  C  L  A  P  G  P  F  S  H  L  S  F  S         p.420

          .         .         .         .         .        | 12.    g.243395
 TTGAGTGATGAACAGGAGAATTCTCACACCCTCCTCAGTCACAACGCATGCAACAAG | CTG    c.1320
 L  S  D  E  Q  E  N  S  H  T  L  L  S  H  N  A  C  N  K   | L      p.440

          .         .         .         .         .  | 13           g.252043
 AGTCATCCAATGGTGGCTATTCCTGAACATGAAGCTCTTGATTCCAAAGAG | CAATGA       c.1377
 S  H  P  M  V  A  I  P  E  H  E  A  L  D  S  K  E   | Q  X         p.458

          .         .         .         .         .         .       g.252103
 agttggagcagaggctgaaaacacaggctgctgaagttttttggaatgctggtgctaacc       c.*60

          .         .         .         .         .         .       g.252163
 acttgctagatttaacttttttttttttttccagaatgagtgctccctttatgagctgca       c.*120

          .         .         .         .         .         .       g.252223
 gtgcagcagaaccaaaaaaaaagtttgctgcaattatatagcatcacagtgctctgctaa       c.*180

          .         .         .         .         .         .       g.252283
 cagccagcatagaagagatttacctacagctttttgcaccactgttctagcctttaatgc       c.*240

          .         .         .         .         .         .       g.252343
 cttctacttaatattaagctgaccgcaatactaacgtgcccctatatttggcagccaaat       c.*300

          .         .                                               g.252368
 aaagaagaatcgtgggtaaatagaa                                          c.*325

 (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 Muscular LMNA-interacting protein 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.