ubiquinol-cytochrome c reductase binding protein (UQCRB) - coding DNA reference sequence

(used for variant description)

(last modified December 8, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_006294.4 in the UQCRB gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008237.1, covering UQCRB transcript NM_006294.4.

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

 (upstream sequence)
                     .         .         .         .                g.5044
                 agcggcctttctctgttcgcgatgtgacgtaacgcgcctgcgga       c.-61

 .         .         .         .         .         .                g.5104
 ctgggcccagcttgtcctctatgacttacccagaaggcaacgcttctctttctggtcaaa       c.-1

          .          | 02        .         .         .         .    g.7448
 ATGGCTGGTAAGCAGGCCG | TTTCAGCATCAGGCAAGTGGCTGGATGGTATTCGAAAATGG    c.60
 M  A  G  K  Q  A  V |   S  A  S  G  K  W  L  D  G  I  R  K  W      p.20

          .         .         .  | 03      .         .         .    g.8723
 TATTACAATGCTGCAGGATTCAATAAACTGG | GGTTAATGCGAGATGATACAATATACGAG    c.120
 Y  Y  N  A  A  G  F  N  K  L  G |   L  M  R  D  D  T  I  Y  E      p.40

          .         .         .         .         .         .       g.8783
 GATGAAGATGTAAAAGAAGCCATAAGAAGACTTCCTGAGAACCTTTATAATGACAGGATG       c.180
 D  E  D  V  K  E  A  I  R  R  L  P  E  N  L  Y  N  D  R  M         p.60

          .         .         .         .         .         .       g.8843
 TTTCGCATTAAGAGGGCACTGGACCTGAACTTGAAGCATCAGATCTTGCCTAAAGAGCAG       c.240
 F  R  I  K  R  A  L  D  L  N  L  K  H  Q  I  L  P  K  E  Q         p.80

          .         | 04         .         .         .         .    g.9544
 TGGACCAAATATGAAGAG | GAAAATTTCTACCTTGAACCGTATCTGAAAGAGGTTATTCGG    c.300
 W  T  K  Y  E  E   | E  N  F  Y  L  E  P  Y  L  K  E  V  I  R      p.100

          .         .         .                                     g.9580
 GAAAGAAAAGAAAGAGAAGAATGGGCAAAGAAGTAA                               c.336
 E  R  K  E  R  E  E  W  A  K  K  X                                 p.111

          .         .         .         .         .         .       g.9640
 tcatgtagttgaagtctgtggatgcagctgttatgaagatggttaaacttgaaacaaaca       c.*60

          .         .         .         .         .         .       g.9700
 attttaagaattatttggtctgaagatgttttactttaaataaatgtctattgtaatggc       c.*120

          .         .         .         .         .         .       g.9760
 tggagtttttgaattccaaaccttatactgaataactactgaatccctttactgttaaat       c.*180

          .         .         .         .         .         .       g.9820
 ttttttccaaactttcaagatatatttagttgtgtttaactgctacttggagctcagaag       c.*240

          .         .         .         .         .         .       g.9880
 ccactttatcagttttcctcactggttggatagcctatcagtttatggaaggatataact       c.*300

          .         .         .         .         .         .       g.9940
 tccgtaagttacatccttatggaagctactgaataaaagaagggggtatgcaccccctag       c.*360

          .         .         .         .         .         .       g.10000
 tttgccaagattgagaaatagcctcttcactggtatgcaaacagatttgattttgcatcc       c.*420

          .         .         .         .         .         .       g.10060
 tatcatttaaaaagaaattatgtctgcaccccaacataggcatacttaagtaatatacat       c.*480

          .         .         .         .         .         .       g.10120
 actcctgtgctaacatgtatactagaaaacaaaaagatgttagaaaaataaaagtataaa       c.*540

          .         .         .         .         .         .       g.10180
 gacaaatcatactgtccccatatcccagtgacttttccactttggaaatgattgttatga       c.*600

          .         .         .         .         .         .       g.10240
 agtttaagggttggatactagtcagttaaaagttttaagattatagggtaatttttaaaa       c.*660

          .         .         .         .         .         .       g.10300
 atataaattagaatcattggcaaggcatggtggctcatgcctgtaatcccagcactttgg       c.*720

          .         .         .         .         .         .       g.10360
 gaggccgaggcgggcgggtcacctgaagtcaggaatttgagaccagcctggccaacatgg       c.*780

          .         .         .         .         .         .       g.10420
 tgaaaccctgtctctactaaaaatacaaaaaattagctaggcgtgatggtaggcacctgt       c.*840

          .         .         .         .         .         .       g.10480
 aatcccagctactcgggaggctgagggaggagaattgcttgaccccaggaggtggaggtt       c.*900

          .         .         .         .         .         .       g.10540
 gcagtgagcctagatcacaccactgcacttcagcctgagcgacattgactgtctcaaaaa       c.*960

          .         .         .         .         .         .       g.10600
 aaaaattaggattattcaatgttgtcatcatttccactcctaaattctgaaatgctttct       c.*1020

          .         .         .         .         .         .       g.10660
 ttggtagaggtgagagtgtggagccacagctagtagagaaggaacagtaggacctgcagc       c.*1080

          .         .         .         .         .         .       g.10720
 ctccctggttttccaggacaagtcattgctgtgtgtggcaggaatgccttacctcaaata       c.*1140

          .         .         .         .         .         .       g.10780
 acaaaacagtgtgaaaaacgaatttgtgttacatttaaagtttgtaaagcaatgagaaat       c.*1200

          .         .         .         .         .         .       g.10840
 gtgtgtatcataaagagcatctttaaatttttgctaaaatattagcctcttaaattctct       c.*1260

          .         .         .         .         .         .       g.10900
 aggaaccccctcccccgcttttttttttcctttcgctggtcgttatttttctaaacctat       c.*1320

          .         .         .         .         .         .       g.10960
 cctgaaatcatgtcaattttcttttgtatggttgaagacaactagatcacttgataatgg       c.*1380

          .         .         .         .         .         .       g.11020
 ttttgctcaggtcacattgtgacaaggttttaatgtagtcctactttgcagaaggaggcc       c.*1440

          .         .         .         .         .         .       g.11080
 aagaagatgggctgtctagaaccccctttaaaagcatttgtctattcagaaaattttcct       c.*1500

          .         .         .         .         .         .       g.11140
 gagtagatctctgcaaaggctcttttaatagtgatttcaagatcacgtttgcaggactct       c.*1560

          .         .         .         .         .         .       g.11200
 ggtctattcgttcagacgtctactgtgcacaattacaaggagactacaactgaggcatct       c.*1620

          .         .         .         .         .         .       g.11260
 caaagagcactgtcaaggtgtgtagggagccgggtgggtggagggaggctgggctctgac       c.*1680

          .         .         .         .         .         .       g.11320
 cctagaaaccatgcttatgaatgctgttaatgtttaaagcaagcctaagggcactgctga       c.*1740

          .         .         .         .         .         .       g.11380
 aggacaggggaacaaatagaactgaccaagactgaggtataacaggaacccccaggctat       c.*1800

          .         .         .         .         .         .       g.11440
 ccacctgctcaaggtaaagtgtggtattacataaggcaacctctgattttgtaagagttc       c.*1860

          .         .         .         .         .         .       g.11500
 ttcctaaagccaaagtgtatgcctattctatgtttccagattacttcattcttctaaatg       c.*1920

          .         .         .         .         .         .       g.11560
 agaacaagtgtgcaaaagttctttgaacactagatcaatgttttgtgttcattataaatt       c.*1980

          .         .         .         .         .         .       g.11620
 atggttatcgtcctgcttgttatgaagactaagaaagtagatctagtatttggctcacac       c.*2040

          .         .         .         .         .         .       g.11680
 aggtgaatgggtgagaatttgttaatccatcagtgaagtcctttcatttgaaagagaggg       c.*2100

          .         .         .         .         .         .       g.11740
 cctttctattatcaaaagccgtcctgtgtggaaaatcaccatgagagtgcctgaaacaca       c.*2160

          .         .         .         .         .         .       g.11800
 ggcactctgcattgtcctgtagaccaaatctacattgtcctgtagtctggtctacattgt       c.*2220

          .         .         .         .         .         .       g.11860
 cctgtagaccgaatggtagagtgattcagagctaattctgggttagactgcacaggtctg       c.*2280

          .         .         .         .         .         .       g.11920
 aatctatttgctcactgtgtagtgctttaggaatacaatttaacctctccgtgcttcagt       c.*2340

          .         .         .         .         .         .       g.11980
 ttgtttgtccctaagatagagctaatgatagaaacctacttcacccagttgtgaaaatta       c.*2400

          .         .         .         .         .         .       g.12040
 actgactgcatgtcaagcactaacagtttctggcatatagtatgcataatgtaaattatg       c.*2460

          .         .         .         .         .         .       g.12100
 tgctgagaagcgagaaagaataacttgggaaaacgctgaatatcatcaatgtcgaatagc       c.*2520

          .         .         .         .         .         .       g.12160
 taaccagtagctaaggtccaaggtctcctctcttccttctatgtggcactcttgtttctg       c.*2580

          .         .         .         .         .         .       g.12220
 gttcatctactccccttgggtgtcacctccttgagtgaagtacctgctggagatgagaag       c.*2640

          .         .         .         .         .         .       g.12280
 agtggaactggatctgcatgacagctttgattaggatggagctaagacttggctatctcc       c.*2700

          .         .         .         .         .         .       g.12340
 ctgttttgtgttttggatgggtgacattttaaaactgccaatattcaaatcctgctaatt       c.*2760

          .         .         .         .         .         .       g.12400
 tgctttgtacagtttaaaatgtttgatatcttttgttgtttaaagtttgagattggtttt       c.*2820

          .         .         .         .         .         .       g.12460
 gaatatacagttttcctacatcttgaagaaagttatgtttgtttactctgaagtggtcta       c.*2880

          .         .         .         .         .         .       g.12520
 tgttctgtttgtttgttttactatactttgcaaaaaaacagatggctggcttatgttcac       c.*2940

          .         .         .         .         .         .       g.12580
 tgttgtagtgcactacctagtatcacttggccttcctgttgtcaagatgtaggaagcagc       c.*3000

          .         .         .         .         .         .       g.12640
 gtaagggatgtcgggccttcagacccccaattgccagctgtggtcctagttccagattgc       c.*3060

          .         .         .         .         .         .       g.12700
 atggaaatatttgataacattcctgcactgagttatcatggtctgaatatttatgtgacg       c.*3120

          .         .         .         .         .         .       g.12760
 ctctacgagtggtaccaaaatgttagtgatggagtttttactaatggcaccttttcctgt       c.*3180

          .         .         .         .         .         .       g.12820
 ttttaaattctagaatcttaataaatccaaagtgtacattttggtagtgatttcatttag       c.*3240

          .         .         .         .         .         .       g.12880
 ttatttactttaaggactcccttttcaagcattaactctgcactaattttgacttatgaa       c.*3300

          .         .         .         .         .         .       g.12940
 aagattcagcagtaagaataaaaactgggccaaagcccaaagtaataatccttcacaaat       c.*3360

          .         .         .         .         .         .       g.13000
 aggatggagttttaaaaatatgggcatcctgtgtgtagctttgaaaataaccaaactact       c.*3420

          .         .         .         .         .         .       g.13060
 tggaattaaaaagttaggtgaacatgaagattgtcataaccaaatccttgacagcttgat       c.*3480

          .         .         .         .         .         .       g.13120
 ggatgaagagcagatgggtttatggtgtatgggaggaagcatggattttaggagggacag       c.*3540

          .         .         .         .         .         .       g.13180
 tatcagagagggatggttagaaagtgagtaagacaggttgctctttggaaaacaaggaaa       c.*3600

          .         .         .         .         .         .       g.13240
 atccctttattagaacaaggcatgaaattctgccactaggtggcgatgccctataacttt       c.*3660

          .         .         .         .         .         .       g.13300
 acaacttagtgtacatcacacgagcactatggaagatttctccattctgcgccccaccaa       c.*3720

          .         .         .         .         .         .       g.13360
 ctccctcccctccttcatttttcaggatgacaacaccttagaggtttatggccatcagga       c.*3780

          .         .         .         .         .         .       g.13420
 gaatttactactaagctatatactgatgtaatgaaatctaatatatgttgtgcaatgaat       c.*3840

          .         .         .         .         .         .       g.13480
 tatgagatgttatttagtttcaggattttattacttcaatcagttatgaccatatttcct       c.*3900

          .         .         .         .         .         .       g.13540
 tttatatgattgctcactctttaaacataccagatgactgtataaggaacacctaataaa       c.*3960

          .         .         .         .         .         .       g.13600
 gtctatagatgttaaaatattttaaatgttttaatttatatgccataatttgtttacatt       c.*4020

          .         .         .         .         .         .       g.13660
 ctggttatactggcgttcatattaaaagccataacatgttagaatctgagatctcaggtc       c.*4080

          .         .         .         .         .         .       g.13720
 ggatagtgcctctaagttatattttgctaagaaattttattgtattagcaattgagcaag       c.*4140

          .         .         .         .         .         .       g.13780
 aaagaagaactgaatcattatacggtggttaatttttagcatagatgtcagaaagcctgt       c.*4200

          .         .         .         .         .         .       g.13840
 taatattccagaggcttatgataaactatttaaattgtcattctggattctgattatatc       c.*4260

          .         .         .         .         .         .       g.13900
 tcctacaaagaaagagtgtattatttattgaactttttgtttgaatacatgtgcctattt       c.*4320

          .         .         .         .         .                 g.13959
 ttgcataaatgtaaaaatgtaattttaaaataaacccctgaaaacttctggtaacatta        c.*4379

 (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 Ubiquinol-cytochrome c reductase binding 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.