(used for variant description)
(last modified August 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000531.5 in the OTC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008471.1, covering OTC transcript NM_000531.5.
(upstream sequence)
. . . g.5034
agcggtggagcttggcataaagttcaaatgctcc c.-181
. . . . . . g.5094
tacaccctgccctgcagtatctctaaccaggggactttgataaggaagctgaagggtgat c.-121
. . . . . . g.5154
attacctttgctccctcactgcaactgaacacatttcttagtttttaggtggcccccgct c.-61
. . . . . . g.5214
ggctaacttgctgtggagttttcaagggcatagaatcgtcctttacacaattaaaagaag c.-1
. . . . . . g.5274
ATGCTGTTTAATCTGAGGATCCTGTTAAACAATGCAGCTTTTAGAAATGGTCACAACTTC c.60
M L F N L R I L L N N A A F R N G H N F p.20
. | 02. . . . . g.19851
ATGGTTCGAAATTTTCG | GTGTGGACAACCACTACAAAATAAAGTGCAGCTGAAGGGCCGT c.120
M V R N F R | C G Q P L Q N K V Q L K G R p.40
. . . . . . g.19911
GACCTTCTCACTCTAAAAAACTTTACCGGAGAAGAAATTAAATATATGCTATGGCTATCA c.180
D L L T L K N F T G E E I K Y M L W L S p.60
. . . | 03 . . . g.22337
GCAGATCTGAAATTTAGGATAAAACAGAAAGGAGAG | TATTTGCCTTTATTGCAAGGGAAG c.240
A D L K F R I K Q K G E | Y L P L L Q G K p.80
. . . . . | 04 g.33861
TCCTTAGGCATGATTTTTGAGAAAAGAAGTACTCGAACAAGATTGTCTACAGAAACAG | GC c.300
S L G M I F E K R S T R T R L S T E T G | p.100
. . . . . . g.33921
TTTGCACTTCTGGGAGGACATCCTTGTTTTCTTACCACACAAGATATTCATTTGGGTGTG c.360
F A L L G G H P C F L T T Q D I H L G V p.120
. . | 05 . . . . g.53826
AATGAAAGTCTCACGGACACGGCCCG | TGTATTGTCTAGCATGGCAGATGCAGTATTGGCT c.420
N E S L T D T A R | V L S S M A D A V L A p.140
. . . . . . g.53886
CGAGTGTATAAACAATCAGATTTGGACACCCTGGCTAAAGAAGCATCCATCCCAATTATC c.480
R V Y K Q S D L D T L A K E A S I P I I p.160
. . . . . . g.53946
AATGGGCTGTCAGATTTGTACCATCCTATCCAGATCCTGGCTGATTACCTCACGCTCCAG c.540
N G L S D L Y H P I Q I L A D Y L T L Q p.180
| 06 . . . . . . g.56195
| GAACACTATAGCTCTCTGAAAGGTCTTACCCTCAGCTGGATCGGGGATGGGAACAATATC c.600
| E H Y S S L K G L T L S W I G D G N N I p.200
. . . . . . g.56255
CTGCACTCCATCATGATGAGCGCAGCGAAATTCGGAATGCACCTTCAGGCAGCTACTCCA c.660
L H S I M M S A A K F G M H L Q A A T P p.220
| 07 . . . . . | 08. g.61396
AAG | GGTTATGAGCCGGATGCTAGTGTAACCAAGTTGGCAGAGCAGTATGCCAAAGAG | AAT c.720
K | G Y E P D A S V T K L A E Q Y A K E | N p.240
. . . . . . g.61456
GGTACCAAGCTGTTGCTGACAAATGATCCATTGGAAGCAGCGCATGGAGGCAATGTATTA c.780
G T K L L L T N D P L E A A H G G N V L p.260
. . . . . . g.61516
ATTACAGACACTTGGATAAGCATGGGACAAGAAGAGGAGAAGAAAAAGCGGCTCCAGGCT c.840
I T D T W I S M G Q E E E K K K R L Q A p.280
. . | 09. . . . g.64412
TTCCAAGGTTACCAGGTTACAATGAAG | ACTGCTAAAGTTGCTGCCTCTGACTGGACATTT c.900
F Q G Y Q V T M K | T A K V A A S D W T F p.300
. . . . . . g.64472
TTACACTGCTTGCCCAGAAAGCCAGAAGAAGTGGATGATGAAGTCTTTTATTCTCCTCGA c.960
L H C L P R K P E E V D D E V F Y S P R p.320
. . . . | 10 . . g.73555
TCACTAGTGTTCCCAGAGGCAGAAAACAGAAAGTGGACAATCATG | GCTGTCATGGTGTCC c.1020
S L V F P E A E N R K W T I M | A V M V S p.340
. . . . g.73600
CTGCTGACAGATTACTCACCTCAGCTCCAGAAGCCTAAATTTTGA c.1065
L L T D Y S P Q L Q K P K F X p.354
. . . . . . g.73660
tgttgtgttacttgtcaagaaagaagcaatgttcttcagtaacagaatgagttggtttat c.*60
. . . . . . g.73720
ggggaaaagagaagagaatctaaaaaataaacaaatccctaacacgtggtatgggtgaac c.*120
. . . . . . g.73780
cgtatgatatgctttgccattgtgaaactttccttaagcctttaatttaagtgctgatgc c.*180
. . . . . . g.73840
actgtaatacgtgcttaactttgcttaaactctctaattcccaatttctgagttacattt c.*240
. . . . . . g.73900
agatatcatattaattatcatatacatttacttcaacataaaatactgtgttcataatgt c.*300
. . . . . . g.73960
ataatgtctaagccattaagtgtaatctatgcttattacctaaataaattatcacccatg c.*360
g.73968
ctaattta c.*368
(downstream sequence)
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