(used for variant description)
(last modified May 11, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_181672.2 in the OGT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015875.1, covering OGT transcript NM_181672.2.
(upstream sequence)
. . . . . g.5058
agttccggcccatgttgtttcggccgaggagccgtcgccgccatttcaagaccgtact c.-181
. . . . . . g.5118
aggtagatggtcaattagagttcccagggtttgaagcctgtaactgctgccgccgctcaa c.-121
. . . . . . g.5178
gccctccagagcattgctacggctgctgcccttgtactactacctccaaatacgttcttg c.-61
. . . . . . g.5238
ctggtagtggcggcagcaggaccaattacctcttttttgctctccctcgagaagctccag c.-1
. . . | 02. . . g.8139
ATGGCGTCTTCCGTGGGCAACGTGGCCGACAGCACAG | AACCAACGAAACGTATGCTTTCC c.60
M A S S V G N V A D S T E | P T K R M L S p.20
. . . . . . g.8199
TTCCAAGGGTTAGCTGAGTTGGCACATCGAGAATATCAGGCAGGAGATTTTGAGGCAGCT c.120
F Q G L A E L A H R E Y Q A G D F E A A p.40
. . . . . . g.8259
GAGAGACACTGCATGCAGCTCTGGAGACAAGAGCCAGACAATACTGGTGTGCTTTTATTA c.180
E R H C M Q L W R Q E P D N T G V L L L p.60
. . . | 03 . . g.9789
CTTTCATCTATACACTTCCAGTGTCGAAGGCTGGACAG | ATCTGCTCACTTTAGCACTCTG c.240
L S S I H F Q C R R L D R | S A H F S T L p.80
. . . . . . g.9849
GCAATTAAACAGAACCCCCTTCTGGCAGAAGCTTATTCGAATTTGGGGAATGTGTACAAG c.300
A I K Q N P L L A E A Y S N L G N V Y K p.100
. . . . . . g.9909
GAAAGAGGGCAGTTGCAGGAGGCAATTGAGCATTATCGACATGCATTGCGTCTCAAACCT c.360
E R G Q L Q E A I E H Y R H A L R L K P p.120
. . . . . . g.9969
GATTTCATCGATGGTTATATTAACCTGGCAGCCGCCTTGGTAGCAGCGGGTGACATGGAA c.420
D F I D G Y I N L A A A L V A A G D M E p.140
. . . . | 04 . . g.16523
GGGGCAGTACAAGCTTACGTCTCTGCTCTTCAGTACAATCCT | GATTTGTACTGTGTTCGC c.480
G A V Q A Y V S A L Q Y N P | D L Y C V R p.160
. . . . . | 05 . g.19854
AGTGACCTGGGGAACCTGCTCAAAGCCCTGGGTCGCTTGGAAGAAGCCAAG | GCATGTTAT c.540
S D L G N L L K A L G R L E E A K | A C Y p.180
. . . . . . g.19914
TTGAAAGCAATTGAGACGCAACCGAACTTTGCAGTAGCTTGGAGTAATCTTGGCTGTGTT c.600
L K A I E T Q P N F A V A W S N L G C V p.200
. . . . | 06 . g.26463
TTCAATGCACAAGGGGAAATTTGGCTTGCAATTCATCACTTTGAAAAG | GCTGTCACCCTT c.660
F N A Q G E I W L A I H H F E K | A V T L p.220
. . . . . . g.26523
GACCCAAACTTTCTGGATGCTTATATCAATTTAGGAAATGTCTTGAAAGAGGCACGCATT c.720
D P N F L D A Y I N L G N V L K E A R I p.240
| 07 . . . . . g.27180
TTTGACAG | AGCTGTGGCAGCTTATCTTCGTGCCCTAAGTTTGAGTCCAAATCACGCAGTG c.780
F D R | A V A A Y L R A L S L S P N H A V p.260
. . . . . . g.27240
GTGCACGGCAACCTGGCTTGTGTATACTATGAGCAAGGCCTGATAGATCTGGCAATAGAC c.840
V H G N L A C V Y Y E Q G L I D L A I D p.280
. . . . . . g.27300
ACCTACAGGCGGGCTATCGAACTACAACCACATTTCCCTGATGCTTACTGCAACCTAGCC c.900
T Y R R A I E L Q P H F P D A Y C N L A p.300
. . | 08 . . . . g.27928
AATGCTCTCAAAGAGAAGGGCAGT | GTTGCTGAAGCAGAAGATTGTTATAATACAGCTCTC c.960
N A L K E K G S | V A E A E D C Y N T A L p.320
. . . . . . g.27988
CGTCTGTGTCCCACCCATGCAGACTCTCTGAATAACCTAGCCAATATCAAACGAGAACAG c.1020
R L C P T H A D S L N N L A N I K R E Q p.340
. . . . | 09 . . g.28633
GGAAACATTGAAGAGGCAGTTCGCTTGTATCGTAAAGCATTAGAA | GTCTTCCCAGAGTTT c.1080
G N I E E A V R L Y R K A L E | V F P E F p.360
. . . . . . g.28693
GCTGCTGCCCATTCAAATTTAGCAAGTGTACTGCAGCAGCAGGGAAAACTGCAGGAAGCT c.1140
A A A H S N L A S V L Q Q Q G K L Q E A p.380
. . | 10 . . . . g.28924
CTGATGCATTATAAGGAGGCTATTCG | AATCAGTCCTACCTTTGCTGATGCCTACTCTAAT c.1200
L M H Y K E A I R | I S P T F A D A Y S N p.400
. . . . . . g.28984
ATGGGAAACACTCTAAAGGAGATGCAGGATGTTCAGGGAGCCTTGCAGTGTTATACGCGT c.1260
M G N T L K E M Q D V Q G A L Q C Y T R p.420
. . . . . . g.29044
GCCATCCAAATTAATCCTGCATTTGCAGATGCACATAGCAATCTGGCTTCCATTCATAAG c.1320
A I Q I N P A F A D A H S N L A S I H K p.440
| 11 . . . . . . g.29193
| GATTCAGGGAATATTCCAGAAGCCATAGCTTCTTACCGCACGGCTCTGAAACTTAAGCCT c.1380
| D S G N I P E A I A S Y R T A L K L K P p.460
. . . . | 12 . . g.29449
GATTTTCCTGATGCTTATTGTAACTTGGCTCATTGCCTGCAG | ATTGTCTGTGATTGGACA c.1440
D F P D A Y C N L A H C L Q | I V C D W T p.480
. . . . . . g.29509
GACTATGATGAGCGAATGAAGAAGTTGGTCAGTATTGTGGCTGACCAGTTAGAGAAGAAT c.1500
D Y D E R M K K L V S I V A D Q L E K N p.500
. . . . . . g.29569
AGGTTGCCTTCTGTGCATCCTCATCATAGTATGCTATATCCTCTTTCTCATGGCTTCAGG c.1560
R L P S V H P H H S M L Y P L S H G F R p.520
. . . . | 13 . . g.31223
AAGGCTATTGCTGAGAGGCACGGCAACCTGTGCTTAGATAAG | ATTAATGTTCTTCATAAA c.1620
K A I A E R H G N L C L D K | I N V L H K p.540
. . . . . . g.31283
CCACCATATGAACATCCAAAAGACTTGAAGCTCAGTGATGGTCGGCTGCGTGTAGGATAT c.1680
P P Y E H P K D L K L S D G R L R V G Y p.560
. . . . . . g.31343
GTGAGTTCCGACTTTGGGAATCATCCTACTTCTCACCTTATGCAGTCTATTCCAGGCATG c.1740
V S S D F G N H P T S H L M Q S I P G M p.580
. . | 14 . . . . g.31565
CACAATCCTGATAAATTTGAG | GTGTTCTGTTATGCCCTGAGCCCAGACGATGGCACAAAC c.1800
H N P D K F E | V F C Y A L S P D D G T N p.600
. . . . . | 15 . g.33722
TTCCGAGTGAAGGTGATGGCAGAAGCCAATCATTTCATTGATCTTTCTCAG | ATTCCATGC c.1860
F R V K V M A E A N H F I D L S Q | I P C p.620
. . . . . . g.33782
AATGGAAAAGCAGCTGATCGCATCCATCAGGATGGAATTCATATCCTTGTAAATATGAAT c.1920
N G K A A D R I H Q D G I H I L V N M N p.640
. . . . . | 16. g.34788
GGCTATACTAAGGGCGCTCGAAATGAGCTTTTTGCTCTCAGGCCAGCTCCTATTCAG | GCA c.1980
G Y T K G A R N E L F A L R P A P I Q | A p.660
. . . . . . g.34848
ATGTGGCTGGGATACCCTGGGACGAGTGGTGCGCTTTTCATGGATTATATTATCACTGAT c.2040
M W L G Y P G T S G A L F M D Y I I T D p.680
. . . . . . g.34908
CAGGAAACTTCGCCAGCTGAAGTTGCTGAGCAGTATTCCGAGAAATTGGCTTATATGCCC c.2100
Q E T S P A E V A E Q Y S E K L A Y M P p.700
. . . . | 17 . g.35080
CACACTTTTTTTATTGGTGATCATGCTAATATGTTCCCTCACCTGAAG | AAAAAAGCAGTC c.2160
H T F F I G D H A N M F P H L K | K K A V p.720
. . . . . . g.35140
ATCGATTTTAAGTCCAATGGGCACATTTATGACAATCGGATAGTTCTGAATGGCATCGAC c.2220
I D F K S N G H I Y D N R I V L N G I D p.740
. . . . | 18 . . g.35282
CTCAAAGCATTTCTTGATAGTCTACCAGATGTGAAAATTGTCAAG | ATGAAGTGTCCTGAT c.2280
L K A F L D S L P D V K I V K | M K C P D p.760
. . . . . . g.35342
GGAGGAGACAATGCAGATAGCAGTAACACAGCTCTTAATATGCCTGTTATTCCTATGAAT c.2340
G G D N A D S S N T A L N M P V I P M N p.780
. . . . . . g.35402
ACTATTGCAGAAGCAGTTATTGAAATGATTAACCGAGGACAGATTCAAATAACAATTAAT c.2400
T I A E A V I E M I N R G Q I Q I T I N p.800
. . . | 19 . . . g.36563
GGATTCAGTATTAGCAATGGACTGGCAACTACTCAG | ATCAACAATAAGGCTGCAACTGGA c.2460
G F S I S N G L A T T Q | I N N K A A T G p.820
. . . . . . g.36623
GAGGAGGTTCCCCGTACCATTATTGTAACCACCCGTTCTCAGTACGGGTTACCAGAAGAT c.2520
E E V P R T I I V T T R S Q Y G L P E D p.840
. . . . . . g.36683
GCCATCGTATACTGTAACTTTAATCAGTTGTATAAAATTGACCCTTCTACTTTGCAGATG c.2580
A I V Y C N F N Q L Y K I D P S T L Q M p.860
| 20 . . . . . g.39489
TGGGCAAAC | ATTCTGAAGCGTGTTCCCAATAGTGTACTCTGGCTGTTGCGTTTTCCAGCA c.2640
W A N | I L K R V P N S V L W L L R F P A p.880
. . . . . . g.39549
GTAGGAGAACCTAATATTCAACAGTATGCACAAAACATGGGCCTGCCCCAGAACCGTATC c.2700
V G E P N I Q Q Y A Q N M G L P Q N R I p.900
. . . . . . g.39609
ATTTTTTCACCTGTTGCTCCTAAAGAGGAACACGTCAGGAGAGGCCAGCTGGCTGATGTC c.2760
I F S P V A P K E E H V R R G Q L A D V p.920
. . . . . . g.39669
TGCTTGGACACTCCACTCTGTAATGGGCACACCACAGGGATGGATGTCCTCTGGGCAGGG c.2820
C L D T P L C N G H T T G M D V L W A G p.940
. . | 21 . . . . g.39969
ACCCCCATGGTGACTATGCCAG | GAGAGACTCTTGCTTCTCGAGTTGCAGCATCCCAGCTC c.2880
T P M V T M P G | E T L A S R V A A S Q L p.960
. . . . . . g.40029
ACTTGCTTAGGTTGTCTTGAGCTTATTGCTAAAAACAGACAAGAATATGAAGACATAGCT c.2940
T C L G C L E L I A K N R Q E Y E D I A p.980
. . | 22 . . . . g.45592
GTGAAGCTGGGAACTGATCTAGAATA | CCTGAAGAAAGTTCGTGGCAAAGTCTGGAAGCAA c.3000
V K L G T D L E Y | L K K V R G K V W K Q p.1000
. . . . . . g.45652
AGAATATCTAGCCCTCTGTTCAACACCAAACAATACACAATGGAACTAGAGCGGCTCTAT c.3060
R I S S P L F N T K Q Y T M E L E R L Y p.1020
. . . . . . g.45712
CTACAGATGTGGGAGCATTATGCAGCTGGCAACAAACCTGACCACATGATTAAGCCTGTT c.3120
L Q M W E H Y A A G N K P D H M I K P V p.1040
. . g.45733
GAAGTCACTGAGTCAGCATAA c.3141
E V T E S A X p.1046
. . . . . . g.45793
ataaagactgcacaggagaattacccctatacctgagcctcaaccttctgggggaaaggg c.*60
. . . . . . g.45853
aactagataacatacttcttacttgtctgtacagtaccttgttgcagatgggtgatatat c.*120
. . . . . . g.45913
aatggtaatagaatagcacagccagacttgcttcctgcatggtagggagagacacaaaag c.*180
. . . . . . g.45973
atgggaaactgcttttccacaaggaatctccgtagaattttgcggcgaccagatggtgca c.*240
. . . . . . g.46033
taggtctggaaggtctgatctcccttggtcttccatgggatggttagtgtggaggggaga c.*300
. . . . . . g.46093
tatagattgtccggccgctttgtgattccatggattgattcagtcttctggatttttttt c.*360
. . . . . . g.46153
tctttatattttgggtactggagcttttaaaaatgtttggtttcaggtatttttattcat c.*420
. . . . . . g.46213
gtgaagtgtatatgattctcttgagataaggttttaagctaaaatgttactccctgtttt c.*480
. . . . . . g.46273
agtttctgaactctgacagattgacagggactttgctggtgtagtctttttataggtttt c.*540
. . . . . . g.46333
ataaaccacttgagcctatatcagtcgttttagtgtctgacctaatatttggagctatca c.*600
. . . . . . g.46393
gtgctttgttgatttagatgatgactcaagattttttctggtccatttcccatttccttt c.*660
. . . . . . g.46453
tcttccctgacccccataccctcacccttaaaattctcctgtaactcaactaacaaaatc c.*720
. . . . . . g.46513
aagcctgattcaaaacatcctagggtgttttaaacacaccatctggtgccaaatgaagat c.*780
. . . . . . g.46573
ttttaggagtgattactaattatcaagggcacagttgtggtactgtcattgataataata c.*840
. . . . . . g.46633
tagtttttttttttttcctaattttgacctgtttcaccagtgttttacccttgactgccc c.*900
. . . . . . g.46693
cttctatgctgcttccaaaagtgatagtgtgtgtaagatttttaccttcctttctaaagt c.*960
. . . . . . g.46753
tttttttttttttttttaagtgagtcctgttcttcctatttctttcagcagaaatgaaat c.*1020
. . . . . . g.46813
cccaggtaagtataagtattcaagtatttgatcagtaagtcacagttatctccagtgcat c.*1080
. . . . . . g.46873
taaataaccttcatcaagaaataggttataggtaaaatctctgaaggatcatctatgtat c.*1140
. . . . . . g.46933
tcaagtaattattttttagataataactgtcttctggacttggtcttgaagtctgtacag c.*1200
. . . . . . g.46993
attcagcctcagtagtagcgaactgcactgctgtttggtttggagtacaaattagactta c.*1260
. . . . . . g.47053
tagtcctcctggaacttgagttattaaaatcataggaataaaattatgggatctcaacaa c.*1320
. . . . . . g.47113
agggtcgagggtttgaggcttaaacaagccaacatatgaatatatgttttgtctcgctat c.*1380
. . . . . . g.47173
actgcacttacgctatccagttgcaggtaattttttgtctgctagtagtgttctagatta c.*1440
. . . . . . g.47233
tgtctttccaaagcgctgaggctgtgcacctattctgtagttgcagctgatgcctgaatg c.*1500
. . . . . . g.47293
tatcctagctgacaaattattgattaataagaacttgaatttctggaagattcttactgt c.*1560
. . . . . . g.47353
taaccaaattttgagcaaggagtctcaaaggtaattctgaaccagaattacatgttaatg c.*1620
. . . . . . g.47413
aacagtgtaccttttaacagtgtaaatcacggaatatccgtgaagggatttcttaattta c.*1680
. . . . . . g.47473
ttttttaccggttgattgaaatatcagttaaaggttgccagcatggttgcagataaactg c.*1740
. . . . . . g.47533
atgtttgaaattcgctgaaatacttaatgtggaataggataatatacttccaatgccctc c.*1800
. . . . . . g.47593
aaggctgtgaccttacagccattttacatagcacatcattcctcctatagggatgaactt c.*1860
. . . . . . g.47653
tttcctggcacgaaaagtagccgctctggttgaagctttgcttattgtaacaggctttta c.*1920
. . . . . . g.47713
tttccaggtaatatgtcttggaagacttaattctgattagagatatagatattactggaa c.*1980
. . . . . . g.47773
actaattgttttttttctattgtactctgctttatcaaagaagtaaaacatttaaatcgt c.*2040
. . . . . . g.47833
actacagaaattaagatgttgtcttgcgatccttaataaatgaatgatttccctttaata c.*2100
g.47836
cgg c.*2103
(downstream sequence)
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