(used for variant description)
(last modified March 3, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_013391.3 in the DMGDH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012164.1, covering DMGDH transcript NM_013391.3.(upstream sequence) . . . . . g.5006 aggctgcccgctggcctcggagcaggcgcctgcgccctcggcctcggcctagtc c.-1 . . . . . . g.5066 ATGCTCCGTCCCGGCGCGCAGCTGCTGCGGGGCCTCCTGCTGCGGAGCTGCCCGCTGCAG c.60 M L R P G A Q L L R G L L L R S C P L Q p.20 . . . . | 02 . . g.10858 GGCTCCCCCGGGCGCCCGCGCTCTGTCTGCGGCCGGGAAGG | AGAGGAAAAACCACCCTTA c.120 G S P G R P R S V C G R E G | E E K P P L p.40 . . . . . . g.10918 TCTGCAGAAACACAATGGAAAGACAGAGCAGAAACAGTGATAATTGGAGGTGGCTGTGTT c.180 S A E T Q W K D R A E T V I I G G G C V p.60 . . . . . . g.10978 GGTGTGAGTCTGGCTTATCACCTGGCCAAAGCAGGGATGAAAGATGTGGTCCTGCTGGAG c.240 G V S L A Y H L A K A G M K D V V L L E p.80 . . . | 03 . . . g.18742 AAATCAGAGCTCACGGCTGGATCTACCTGGCACGCA | GCAGGTTTAACAACTTACTTTCAT c.300 K S E L T A G S T W H A | A G L T T Y F H p.100 . . . . . . g.18802 CCTGGAATAAACTTGAAGAAAATACATTATGATAGCATCAAACTTTATGAGAAACTGGAA c.360 P G I N L K K I H Y D S I K L Y E K L E p.120 . | 04 . . . . . g.20323 GAAGAAACTGGTCAG | GTGGTGGGATTCCATCAGCCAGGTAGTATCAGACTTGCTACCACC c.420 E E T G Q | V V G F H Q P G S I R L A T T p.140 . . . . . . g.20383 CCTGTAAGGGTAGATGAATTTAAATATCAAATGACTCGGACTGGCTGGCATGCAACAGAA c.480 P V R V D E F K Y Q M T R T G W H A T E p.160 . . . . . . g.20443 CAGTATCTCATTGAACCTGAAAAAATTCAAGAGATGTTCCCTTTACTCAACATGAATAAG c.540 Q Y L I E P E K I Q E M F P L L N M N K p.180 | 05 . . . . . . g.23195 | GTTTTAGCTGGATTGTATAATCCTGGAGATGGTCACATTGATCCTTATTCTCTAACTATG c.600 | V L A G L Y N P G D G H I D P Y S L T M p.200 . . . . . . g.23255 GCACTGGCTGCTGGGGCTAGGAAATGTGGTGCCCTTTTAAAATATCCTGCACCAGTAACT c.660 A L A A G A R K C G A L L K Y P A P V T p.220 . . . . . . g.23315 TCTCTGAAAGCCAGGTCAGATGGAACATGGGACGTTGAAACACCACAGGGGTCTATGAGA c.720 S L K A R S D G T W D V E T P Q G S M R p.240 . . | 06 . . . . g.30109 GCAAATAGAATTGTGAATGCTGCAG | GATTTTGGGCTCGTGAAGTAGGTAAAATGATTGGA c.780 A N R I V N A A G | F W A R E V G K M I G p.260 . . . . . . g.30169 CTAGAACATCCTCTCATTCCGGTTCAACATCAATATGTTGTTACATCGACTATATCTGAA c.840 L E H P L I P V Q H Q Y V V T S T I S E p.280 . . . . . . g.30229 GTGAAAGCTTTGAAACGAGAACTGCCTGTGCTCCGTGACCTGGAAGGATCATATTATCTC c.900 V K A L K R E L P V L R D L E G S Y Y L p.300 . . . . . . g.30289 CGACAGGAAAGGGATGGGCTTTTGTTTGGTCCATATGAAAGTCAAGAGAAAATGAAAGTT c.960 R Q E R D G L L F G P Y E S Q E K M K V p.320 . . . | 07 . . . g.32171 CAGGACTCCTGGGTCACCAATGGAGTTCCTCCAG | GTTTTGGAAAGGAACTCTTTGAGTCT c.1020 Q D S W V T N G V P P G | F G K E L F E S p.340 . . . . . . g.32231 GATCTAGATCGAATCATGGAACACATCAAAGCTGCCATGGAAATGGTTCCTGTCTTGAAA c.1080 D L D R I M E H I K A A M E M V P V L K p.360 . . . . . . g.32291 AAGGCTGACATCATCAATGTTGTCAATGGTCCTATCACGTATTCTCCTGACATTCTGCCT c.1140 K A D I I N V V N G P I T Y S P D I L P p.380 . . . . . | 08 . g.41225 ATGGTGGGGCCCCATCAGGGGGTCAGAAACTACTGGGTGGCTATAGGCTTTGG | ATATGGC c.1200 M V G P H Q G V R N Y W V A I G F G | Y G p.400 . . . . . . g.41285 ATAATCCACGCTGGTGGGGTAGGGAAATATCTCAGTGACTGGATCCTGCATGGAGAACCT c.1260 I I H A G G V G K Y L S D W I L H G E P p.420 . . . . . . g.41345 CCTTTTGATCTGATAGAATTGGATCCTAATCGCTATGGCAAATGGACAACAACCCAGTAC c.1320 P F D L I E L D P N R Y G K W T T T Q Y p.440 . . . . | 09 . . g.41803 ACTGAGGCCAAAGCAAGAGAATCATATGGATTCAACAATATTG | TTGGTTATCCTAAAGAA c.1380 T E A K A R E S Y G F N N I V | G Y P K E p.460 . . . . . . g.41863 GAACGGTTTGCTGGGAGGCCGACTCAACGAGTCAGTGGGCTCTATCAAAGGCTGGAGTCT c.1440 E R F A G R P T Q R V S G L Y Q R L E S p.480 . . . . . . g.41923 AAGTGTTCCATGGGGTTCCATGCTGGCTGGGAGCAGCCGCACTGGTTCTACAAACCAGGC c.1500 K C S M G F H A G W E Q P H W F Y K P G p.500 . | 10. . . . . g.43671 CAGGACACTCAGTACAG | GCCAAGTTTTCGCCGCACAAACTGGTTTGAGCCTGTGGGCTCG c.1560 Q D T Q Y R | P S F R R T N W F E P V G S p.520 . . . . . . g.43731 GAGTATAAACAGGTTATGCAAAGAGTAGCGGTAACTGACCTATCACCATTTGGCAAGTTT c.1620 E Y K Q V M Q R V A V T D L S P F G K F p.540 . . . . . . g.43791 AACATCAAAGGCCAAGATTCCATTAGACTACTGGACCATCTCTTTGCAAATGTCATTCCA c.1680 N I K G Q D S I R L L D H L F A N V I P p.560 | 11 . . . . . . g.44649 AAG | GTGGGTTTTACAAATATAAGTCACATGTTAACACCCAAGGGTCGAGTGTATGCTGAG c.1740 K | V G F T N I S H M L T P K G R V Y A E p.580 . . . . . . g.44709 CTGACTGTTTCTCACCAATCTCCTGGGGAGTTTCTTTTAATTACTGGCTCTGGATCAGAA c.1800 L T V S H Q S P G E F L L I T G S G S E p.600 . | 12 . . . . . g.46022 CTTCATGATCTTAG | ATGGATTGAAGAAGAAGCAGTCAAAGGTGGATATGATGTTGAAATT c.1860 L H D L R | W I E E E A V K G G Y D V E I p.620 . . . . . . g.46082 AAAAACATAACTGATGAGCTTGGAGTTCTTGGAGTTGCTGGGCCACAGGCAAGAAAGGTC c.1920 K N I T D E L G V L G V A G P Q A R K V p.640 . . . . . . g.46142 CTTCAGAAACTGACCTCTGAAGATCTTAGTGATGATGTTTTCAAGTTTCTTCAAACCAAG c.1980 L Q K L T S E D L S D D V F K F L Q T K p.660 . . . . . | 13 . g.48053 TCCTTAAAGGTTTCCAACATTCCTGTCACTGCTATTAGGATATCTTATACTG | GTGAGCTG c.2040 S L K V S N I P V T A I R I S Y T G | E L p.680 . . . . . . g.48113 GGTTGGGAGCTGTATCACAGAAGAGAAGATTCTGTGGCGCTGTATGACGCTATCATGAAT c.2100 G W E L Y H R R E D S V A L Y D A I M N p.700 . . . . . . g.48173 GCAGGCCAGGAGGAGGGAATCGACAATTTTGGAACCTATGCCATGAATGCCTTACGCCTG c.2160 A G Q E E G I D N F G T Y A M N A L R L p.720 . . . | 14 . . . g.50326 GAGAAAGCCTTCAGAGCCTGGGGGTTAGAG | ATGAACTGTGATACAAATCCTTTGGAAGCT c.2220 E K A F R A W G L E | M N C D T N P L E A p.740 . . . | 15 . . . g.69249 GGACTGGAATATTTTGTGAAGTTAAATAAG | CCAGCAGACTTCATAGGAAAGCAAGCACTG c.2280 G L E Y F V K L N K | P A D F I G K Q A L p.760 . . . . . . g.69309 AAACAGATTAAAGCCAAGGGGCTGAAACGAAGACTGGTCTGCCTCACCTTGGCAACGGAT c.2340 K Q I K A K G L K R R L V C L T L A T D p.780 . . . . | 16 . . g.76344 GATGTTGATCCAGAGGGAAATGAAAGCATCTGGTACAATGGCAAG | GTGGTTGGCAACACG c.2400 D V D P E G N E S I W Y N G K | V V G N T p.800 . . . . . . g.76404 ACATCTGGAAGCTATAGCTACAGCATCCAGAAGAGTCTGGCTTTCGCATATGTCCCTGTA c.2460 T S G S Y S Y S I Q K S L A F A Y V P V p.820 . . . . . . g.76464 CAACTAAGTGAAGTGGGACAGCAAGTGGAAGTTGAACTATTAGGCAAAAATTACCCAGCA c.2520 Q L S E V G Q Q V E V E L L G K N Y P A p.840 . . . . . . g.76524 GTCATCATACAAGAACCTTTGGTATTGACCGAACCAACCAGAAACCGGCTTCAGAAAAAA c.2580 V I I Q E P L V L T E P T R N R L Q K K p.860 . . g.76545 GGTGGAAAGGACAAAACTTGA c.2601 G G K D K T X p.866 . . . . . . g.76605 aaaaagaccttcagcagtcaactgaattagagttgctaatgactgtccttgaaattatta c.*60 . . . . . . g.76665 taactggctcccaggggaatagaggaaaccaggaattcatttcaaaatcatcaaagtcta c.*120 . . . . . . g.76725 aatttagaatcttaatgaaacctttctgttaagtgttttctaagcaagacagaataatag c.*180 . . . . . . g.76785 ataaatgatttacattgttcttttaaatgaagaaatttgaaatgaatgtttttttattta c.*240 . . . . . . g.76845 ccccacattacccaatcagtaaaacatttaggtgtttgctaatatacacaatcattacta c.*300 . . . . . . g.76905 taacctaattaagggacattttataattttagtaacaaatgcattcggttcttgacagct c.*360 . . . . . . g.76965 gaaaacaaattaataaattatcttttacataaaaacatgtacaatattgtttatggattt c.*420 . . . . . . g.77025 acttctttgagaaatctttccttagatgaataaatgaaagttttaatttttcatgatata c.*480 . . . g.77063 tctgtgatgaaaatagtaaaacttaacattgacatata c.*518 (downstream sequence)Legend:
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