(used for variant description)
(last modified June 6, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001032386.1 in the SUOX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering SUOX transcript NM_001032386.1.
(upstream sequence)
. . g.5020
ataacggcgctggccccgcc c.-181
. . . . . . g.5080
ccttctcgagaactcgcagagctgggctggtaaaattgcagtgctgaagacactggaccc c.-121
. | 02 . . . . . g.5415
g | caaaaggctgtccctcccaaacctgggattctgggctcactgagttcacctgcgagtca c.-61
. . . . . | 03 g.9963
gccctacctgcactgctctggtctagtacaaacaggctgctggcattgag | gtctgctaca c.-1
. . . . . | 04 . g.10294
ATGCTGCTGCTGCACAGAGCTGTGGTCCTCAGGCTCCAACAGGCCTGCAG | ACTCAAGTCA c.60
M L L L H R A V V L R L Q Q A C R | L K S p.20
. . . . . . g.10354
ATCCCCTCAAGGATCTGCATTCAGGCCTGCTCCACAAATGATTCATTTCAGCCCCAGCGC c.120
I P S R I C I Q A C S T N D S F Q P Q R p.40
. . . . . . g.10414
CCCAGCCTCACCTTCTCTGGTGATAACTCCAGCACCCAGGGATGGAGAGTCATGGGGACC c.180
P S L T F S G D N S S T Q G W R V M G T p.60
. . . . | 05 . g.11371
CTATTAGGTCTCGGTGCAGTGTTGGCCTATCAGGACCATCGGTGTAGG | GCTGCTCAGGAG c.240
L L G L G A V L A Y Q D H R C R | A A Q E p.80
. . . . . . g.11431
TCAACACACATATACACTAAGGAGGAAGTGAGTTCCCACACCAGCCCTGAGACTGGGATC c.300
S T H I Y T K E E V S S H T S P E T G I p.100
. . . . . . g.11491
TGGGTGACTCTGGGCTCTGAGGTCTTTGATGTCACAGAATTTGTGGACCTACATCCAGGG c.360
W V T L G S E V F D V T E F V D L H P G p.120
. . . . . . g.11551
GGGCCTTCAAAGCTGATGCTAGCAGCTGGGGGTCCCCTAGAGCCCTTCTGGGCCCTCTAT c.420
G P S K L M L A A G G P L E P F W A L Y p.140
. . . . . . g.11611
GCTGTTCACAACCAGTCCCATGTGCGTGAGTTACTGGCTCAGTACAAGATTGGGGAGCTG c.480
A V H N Q S H V R E L L A Q Y K I G E L p.160
. . . . . . g.11671
AATCCTGAAGACAAGGTAGCCCCCACCGTGGAGACCTCTGACCCTTATGCTGATGATCCT c.540
N P E D K V A P T V E T S D P Y A D D P p.180
. . . . . . g.11731
GTACGTCACCCAGCCCTGAAGGTCAACAGCCAGCGGCCCTTTAATGCAGAGCCTCCCCCT c.600
V R H P A L K V N S Q R P F N A E P P P p.200
. . . . . . g.11791
GAGCTGCTGACAGAAAACTACATCACACCCAACCCTATCTTCTTCACCCGGAACCATCTG c.660
E L L T E N Y I T P N P I F F T R N H L p.220
. . . . . . g.11851
CCTGTACCTAACCTGGATCCAGACACCTATCGCTTACACGTAGTAGGAGCACCTGGGGGT c.720
P V P N L D P D T Y R L H V V G A P G G p.240
. . . . . . g.11911
CAGTCACTGTCTCTTTCCCTGGATGACTTGCACAACTTTCCCAGGTACGAGATCACAGTC c.780
Q S L S L S L D D L H N F P R Y E I T V p.260
. . . . . . g.11971
ACTCTGCAGTGTGCCGGCAACCGACGCTCTGAGATGACTCAGGTCAAAGAAGTAAAAGGT c.840
T L Q C A G N R R S E M T Q V K E V K G p.280
. . . . . . g.12031
CTGGAGTGGAGAACAGGAGCCATCAGCACTGCACGCTGGGCTGGGGCACGGCTCTGTGAT c.900
L E W R T G A I S T A R W A G A R L C D p.300
. . . . . . g.12091
GTGTTAGCCCAGGCTGGCCACCAACTCTGTGAAACTGAGGCCCACGTCTGCTTTGAGGGA c.960
V L A Q A G H Q L C E T E A H V C F E G p.320
. . . . . . g.12151
CTGGACTCAGACCCTACTGGGACTGCCTATGGAGCATCCATCCCTCTGGCTCGGGCCATG c.1020
L D S D P T G T A Y G A S I P L A R A M p.340
. . . . . . g.12211
GACCCTGAAGCTGAGGTCCTGCTGGCATATGAGATGAATGGGCAGCCTCTGCCACGTGAC c.1080
D P E A E V L L A Y E M N G Q P L P R D p.360
. . . . . . g.12271
CACGGCTTCCCTGTGCGTGTGGTGGTTCCTGGAGTGGTGGGTGCCCGCCATGTCAAATGG c.1140
H G F P V R V V V P G V V G A R H V K W p.380
. . . . . . g.12331
CTGGGCAGAGTGAGTGTGCAGCCAGAGGAAAGTTACAGCCACTGGCAACGGCGGGATTAC c.1200
L G R V S V Q P E E S Y S H W Q R R D Y p.400
. . . . . . g.12391
AAAGGCTTCTCTCCATCTGTGGACTGGGAGACTGTAGATTTTGACTCTGCTCCATCCATT c.1260
K G F S P S V D W E T V D F D S A P S I p.420
. . . . . . g.12451
CAGGAACTTCCTGTCCAGTCGGCCATCACAGAGCCCCGGGATGGAGAGACTGTAGAATCA c.1320
Q E L P V Q S A I T E P R D G E T V E S p.440
. . . . . . g.12511
GGGGAGGTGACCATCAAGGGCTATGCATGGAGTGGTGGTGGCAGGGCTGTGATCCGGGTG c.1380
G E V T I K G Y A W S G G G R A V I R V p.460
. . . . . . g.12571
GATGTGTCTCTGGATGGGGGCCTAACCTGGCAGGTGGCTAAGCTGGATGGAGAGGAACAG c.1440
D V S L D G G L T W Q V A K L D G E E Q p.480
. . . . . . g.12631
CGCCCCAGGAAGGCCTGGGCATGGCGTCTGTGGCAGTTGAAAGCCCCTGTGCCAGCTGGA c.1500
R P R K A W A W R L W Q L K A P V P A G p.500
. . . . . . g.12691
CAAAAGGAACTGAACATTGTTTGTAAGGCTGTGGATGATGGTTACAATGTGCAGCCAGAC c.1560
Q K E L N I V C K A V D D G Y N V Q P D p.520
. . . . . . g.12751
ACCGTGGCCCCAATCTGGAACCTGCGAGGTGTTCTCAGCAATGCCTGGCATCGTGTCCAT c.1620
T V A P I W N L R G V L S N A W H R V H p.540
. g.12769
GTCTATGTCTCCCCATGA c.1638
V Y V S P X p.545
. . . . . . g.12829
gcatggaaaggagccacctccacccctttccccacccattagcctcactgcttcagaaaa c.*60
. . . . . . g.12889
atctttcccacctttcaacttcttggatcacaactctggccttcctaagccatacccaag c.*120
. . . . . . g.12949
tacacatatagcacatttcacccaaggaccttccctctttggacactatgttacataccc c.*180
. . . . . . g.13009
ctcttggcctttgaacctgtgccaggaagtgtgagctgttacagcaaggggctagaagtg c.*240
. . . . . . g.13069
aaaaaagtaattctggagacaagcactattttctcttcctaccccacctccatttctaat c.*300
. . . . . . g.13129
gcctactgccatcaaggccttgttttgcttttctttttggattgttcagagaaatgtgtg c.*360
. . . . . . g.13189
tggcatgtgtaagaaaagtgtatatactatcttatactacctctccaggttgccagagag c.*420
. . . . . . g.13249
ttgcgaggagagcaaggggcacaaccgtctccctttatagttctacttttctaataaata c.*480
. g.13267
gtctgtttaagatcataa c.*498
(downstream sequence)
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