(used for variant description)
(last modified October 20, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_018245.2 in the OGDHL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering OGDHL transcript NM_018245.2.
(upstream sequence)
. . g.5022
gagtctcaggggcgcgcgcccg c.-121
. . . . . . g.5082
tgggcggctgcgtcacgtgacccaggtaattggcacggcgcgcgcgcaccccttccgcgc c.-61
. . . . . . | 02 g.8787
agccccctgacctgcagcctccggacctcgctgcagcgcggacccggcccgcccgcccg | a c.-1
. . . . . . g.8847
ATGAGTCAGCTGAGGCTGCTGCCGTCCCGTCTTGGGGTACAGGCTGCGAGGCTCCTGGCT c.60
M S Q L R L L P S R L G V Q A A R L L A p.20
. . . . . . g.8907
GCACATGACGTCCCGGTGTTTGGCTGGCGCAGCAGGTCCTCCGGGCCACCGGCCACCTTC c.120
A H D V P V F G W R S R S S G P P A T F p.40
. . . . . . g.8967
CCAAGCAGCAAAGGTGGAGGCGGCTCCAGTTACATGGAGGAGATGTACTTCGCCTGGTTG c.180
P S S K G G G G S S Y M E E M Y F A W L p.60
. . | 03 . . . . g.10469
GAAAACCCCCAGAGTGTCCACAAG | TCCTGGGACAGCTTCTTCAGGGAAGCCAGCGAGGAA c.240
E N P Q S V H K | S W D S F F R E A S E E p.80
. . . . . . g.10529
GCCTTTTCTGGCTCTGCTCAGCCACGGCCCCCTTCTGTTGTCCATGAGAGCAGGTCTGCA c.300
A F S G S A Q P R P P S V V H E S R S A p.100
. . . . . . g.10589
GTCTCAAGTCGGACCAAGACCAGCAAATTGGTGGAGGACCACCTGGCTGTGCAGTCCCTG c.360
V S S R T K T S K L V E D H L A V Q S L p.120
. | 04 . . . . . g.14684
ATCCGGGCCTACCAG | ATCCGGGGTCACCATGTGGCCCAGCTGGACCCCCTGGGCATTCTG c.420
I R A Y Q | I R G H H V A Q L D P L G I L p.140
. . . . . | 05 g.15133
GATGCAGACCTGGACTCCTTTGTGCCCTCAGACTTGATCACAACCATTGATAAACTGG | CC c.480
D A D L D S F V P S D L I T T I D K L A | p.160
. . . . . . g.15193
TTCTATGACCTTCAGGAGGCTGACCTTGATAAGGAGTTCCAGCTGCCGACAACCACCTTC c.540
F Y D L Q E A D L D K E F Q L P T T T F p.180
. . . . . | 06 . g.15404
ATTGGGGGCTCTGAAAACACCCTCTCTCTGCGGGAGATCATTCGGCGCCTGGAG | AACACC c.600
I G G S E N T L S L R E I I R R L E | N T p.200
. . . . . . g.15464
TACTGCCAGCACATTGGCCTGGAGTTCATGTTCATCAACGATGTGGAGCAGTGCCAGTGG c.660
Y C Q H I G L E F M F I N D V E Q C Q W p.220
. . . . . . g.15524
ATCCGGCAGAAGTTTGAGACCCCTGGTGTGATGCAGTTCTCCAGCGAGGAGAAGCGGACC c.720
I R Q K F E T P G V M Q F S S E E K R T p.240
. . | 07 . . . g.16425
CTGCTGGCCCGGCTAGTGCGCTCCATGAG | GTTTGAAGACTTCCTGGCCCGGAAATGGTCC c.780
L L A R L V R S M R | F E D F L A R K W S p.260
. . . . . . g.16485
TCAGAGAAGCGGTTTGGCCTGGAGGGCTGTGAAGTGATGATTCCTGCCCTCAAGACCATC c.840
S E K R F G L E G C E V M I P A L K T I p.280
. . . . . | 08 . g.17567
ATCGACAAATCCAGCGAGATGGGGATTGAGAATGTCATCTTGGGGATGCCACACAG | GGGA c.900
I D K S S E M G I E N V I L G M P H R | G p.300
. . . . . . g.17627
AGGCTGAACGTGCTGGCCAACGTGATCCGCAAGGACCTGGAGCAGATCTTCTGCCAGTTT c.960
R L N V L A N V I R K D L E Q I F C Q F p.320
. . | 09. . . . g.20204
GACCCCAAGCTGGAGGCGGCGGACGAG | GGCTCCGGGGATGTCAAGTACCACCTGGGCATG c.1020
D P K L E A A D E | G S G D V K Y H L G M p.340
. . . . . . g.20264
TACCATGAGAGGATCAACCGCGTCACCAACCGGAACATCACTCTGTCGCTGGTTGCCAAC c.1080
Y H E R I N R V T N R N I T L S L V A N p.360
. . . . . . g.20324
CCCTCCCACCTGGAGGCAGTGGACCCTGTGGTGCAGGGGAAGACAAAGGCAGAGCAGTTC c.1140
P S H L E A V D P V V Q G K T K A E Q F p.380
. . | 10. . . . g.20534
TACCGTGGAGATGCCCAGGGCAAGAAG | GTCATGTCCATCCTGGTTCATGGGGACGCCGCC c.1200
Y R G D A Q G K K | V M S I L V H G D A A p.400
. . . . . . g.20594
TTTGCTGGCCAGGGCGTGGTATATGAGACCTTCCACCTGAGCGACCTGCCCTCCTACACG c.1260
F A G Q G V V Y E T F H L S D L P S Y T p.420
. . . | 11 . . . g.21426
ACCAATGGTACCGTGCACGTCGTCGTCAACAACCAG | ATTGGATTCACCACAGACCCCCGA c.1320
T N G T V H V V V N N Q | I G F T T D P R p.440
. . . . . . g.21486
ATGGCCCGCTCCTCACCATACCCGACCGACGTGGCCCGGGTGGTCAATGCGCCTATCTTC c.1380
M A R S S P Y P T D V A R V V N A P I F p.460
. . . . . . g.21546
CATGTGAATGCCGATGACCCAGAGGCTGTGATATATGTGTGCAGTGTGGCAGCCGAATGG c.1440
H V N A D D P E A V I Y V C S V A A E W p.480
. . . | 12 . . . g.21907
AGAAACACTTTCAACAAAGATGTTGTCGTGGACCTG | GTCTGTTACCGCCGGCGTGGCCAC c.1500
R N T F N K D V V V D L | V C Y R R R G H p.500
. . . . . . g.21967
AATGAGATGGACGAGCCCATGTTCACCCAGCCGCTCATGTACAAGCAGATCCACAGACAG c.1560
N E M D E P M F T Q P L M Y K Q I H R Q p.520
. . . . . . g.22027
GTGCCTGTGCTGAAGAAGTACGCAGACAAGCTGATTGCCGAGGGCACAGTCACCCTGCAG c.1620
V P V L K K Y A D K L I A E G T V T L Q p.540
| 13 . . . . . g.22678
GAGTTTGAG | GAAGAAATTGCCAAATACGACCGGATCTGTGAGGAGGCTTATGGCAGGTCC c.1680
E F E | E E I A K Y D R I C E E A Y G R S p.560
. . . . . | 14 . g.23265
AAGGATAAAAAGATTCTGCATATAAAGCACTGGTTGGACTCCCCCTGGCCTG | GCTTCTTC c.1740
K D K K I L H I K H W L D S P W P G | F F p.580
. . . . . . g.23325
AACGTAGATGGGGAGCCCAAGAGCATGACATGCCCAGCCACGGGGATCCCTGAGGACATG c.1800
N V D G E P K S M T C P A T G I P E D M p.600
. . . . . . g.23385
CTCACCCACATCGGCAGTGTGGCCAGCTCTGTGCCCCTGGAGGACTTTAAGATCCACACT c.1860
L T H I G S V A S S V P L E D F K I H T p.620
| 15 . . . . . . g.24460
G | GCCTCTCTCGCATTCTGCGGGGCCGTGCGGACATGACCAAGAACCGGACGGTGGACTGG c.1920
G | L S R I L R G R A D M T K N R T V D W p.640
. . . . . . g.24520
GCGTTGGCAGAGTACATGGCCTTTGGCTCCCTGCTGAAGGAAGGCATCCACGTGCGGCTC c.1980
A L A E Y M A F G S L L K E G I H V R L p.660
. . . | 16 . . . g.26570
AGCGGGCAGGATGTGGAGAGGGGCACATTCAG | TCACCGGCACCATGTTCTCCATGACCAG c.2040
S G Q D V E R G T F S | H R H H V L H D Q p.680
. . . . . . g.26630
GAGGTTGACCGCAGGACGTGTGTGCCTATGAATCATCTCTGGCCTGACCAGGCCCCGTAC c.2100
E V D R R T C V P M N H L W P D Q A P Y p.700
. . . . | 17 . . g.27560
ACCGTGTGCAACAGCTCCCTCTCGGAGTACGGAGTCCTGG | GCTTTGAGCTGGGCTATGCC c.2160
T V C N S S L S E Y G V L G | F E L G Y A p.720
. . . . . . g.27620
ATGGCCAGCCCCAATGCCCTGGTCCTCTGGGAGGCCCAGTTTGGGGACTTCCACAACACG c.2220
M A S P N A L V L W E A Q F G D F H N T p.740
. . . . . . g.27680
GCCCAGTGCATCATCGACCAGTTCATCAGCACCGGCCAGGCCAAGTGGGTGCGGCATAAT c.2280
A Q C I I D Q F I S T G Q A K W V R H N p.760
. . . | 18 . . g.29138
GGCATTGTGCTGCTGCTGCCCCATGGCATGGAAGGCATG | GGCCCAGAGCACTCGTCAGCG c.2340
G I V L L L P H G M E G M | G P E H S S A p.780
. . . . . | 19 . g.29316
AGGCCCGAAAGGTTCCTGCAGATGAGCAATGATGACTCGGATGCCTACCCT | GCATTCACC c.2400
R P E R F L Q M S N D D S D A Y P | A F T p.800
. . . . . . g.29376
AAGGACTTCGAGGTGAGCCAGCTCTATGACTGCAACTGGATCGTGGTCAACTGCTCCACA c.2460
K D F E V S Q L Y D C N W I V V N C S T p.820
. . . . . | 20. g.29524
CCGGCCAACTACTTCCACGTGCTGCGCCGGCAGATCCTGCTGCCCTTCCGCAAGCCG | CTG c.2520
P A N Y F H V L R R Q I L L P F R K P | L p.840
. . . . . . g.29584
ATTATCTTCACACCTAAATCTCTGCTGAGGCACCCAGAGGCCAAGTCCAGCTTTGACCAA c.2580
I I F T P K S L L R H P E A K S S F D Q p.860
. | 21 . . . . . g.30909
ATGGTATCCG | GGACCAGCTTCCAGCGGGTGATTCCTGAAGATGGGGCCGCAGCACGGGCC c.2640
M V S G | T S F Q R V I P E D G A A A R A p.880
. . . . . . g.30969
CCTGAGCAGGTGCAGCGGCTCATCTTCTGCACGGGAAAGGTGTACTATGACCTGGTGAAG c.2700
P E Q V Q R L I F C T G K V Y Y D L V K p.900
. . . . . | 22 . g.31208
GAGCGGAGCAGCCAGGACCTGGAGGAGAAAGTGGCCATCACGCGCCTGGAGCAG | ATCTCT c.2760
E R S S Q D L E E K V A I T R L E Q | I S p.920
. . . . . . g.31268
CCATTCCCCTTCGACCTGATCAAGCAGGAGGCAGAGAAGTACCCAGGTGCGGAGCTGGCC c.2820
P F P F D L I K Q E A E K Y P G A E L A p.940
. . . . . . g.31328
TGGTGTCAGGAGGAGCACAAGAACATGGGCTACTATGACTACATCAGCCCACGCTTCATG c.2880
W C Q E E H K N M G Y Y D Y I S P R F M p.960
. . | 23 . . . g.32059
ACCATCCTGAGGCGCGCACGGCCCATATG | GTATGTTGGCCGGGACCCAGCGGCTGCACCA c.2940
T I L R R A R P I W | Y V G R D P A A A P p.980
. . . . . . g.32119
GCCACAGGAAACAGGAACACTCACCTGGTGTCACTGAAGAAGTTTCTGGATACTGCCTTC c.3000
A T G N R N T H L V S L K K F L D T A F p.1000
. . . g.32152
AATCTCCAGGCCTTTGAGGGCAAGACATTTTAG c.3033
N L Q A F E G K T F X p.1010
. . . . . . g.32212
agctgggcaaaacctgtgtaggtctcgctgtgggtttgctggggaccaagggggtgatga c.*60
. . . . . . g.32272
aaaggggaggggcggagctcctgcccaggagaggggctgtggggccccaggataaaacag c.*120
. . . . . . g.32332
acacagtgacagggccaagagccagcactgctggccttggtgtcatgccagaatctacca c.*180
. . . . . . g.32392
ggactgagggagccagaggagtcctataggcaggctactgtgctggagcatcccccagct c.*240
. . . . . . g.32452
gctcccatcttgctggaatttcttgggcggcttctccacctgtatctcaagacagacacc c.*300
. . . . . . g.32512
cgggggcctgtgtctgtggccgctcccatcccggcagccctggctgctgctcgccccacc c.*360
. . . . . . g.32572
ctcgcttatctgtagattcaaagcgatgttctcttctgtgctcttagaagtagggagttc c.*420
. . . . . . g.32632
agcagtaacagccaggtgaagcgaacctgctgggtgatttgtttgcgctctgttttatgg c.*480
. . . . . . g.32692
ggcattcctgcgagatgtgtcagcttctgtgtgaaatgcagccacagctcatgtgtacca c.*540
. . . . g.32739
aagtagaaaaccaaatcacagagaaataaaaacatgcttcagagaga c.*587
(downstream sequence)
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