(used for variant description)
(last modified October 19, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_024854.3 in the PYROXD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_053196.1, covering PYROXD1 transcript NM_024854.3.
(upstream sequence)
g.5007
agcaccc c.-121
. . . . . . g.5067
gtaggtcggattatctggtaaggcaccggaagtgaccgcctcgcggctgcttcctctcct c.-61
. . . . . . g.5127
ggagtccagagtcccgttgctccgccgcgatattcagtaaaccactgggagtccggcagc c.-1
. . . . . . g.5187
ATGGAGGCAGCGCGCCCTCCCCCGACGGCAGGGAAGTTCGTGGTGGTCGGCGGCGGCATC c.60
M E A A R P P P T A G K F V V V G G G I p.20
. . | 02 . . . . g.7800
GCGGGCGTCACTTGTGCGGAGCAG | TTGGCTACTCACTTTCCATCGGAAGATATTCTCTTG c.120
A G V T C A E Q | L A T H F P S E D I L L p.40
. . . . | 03 . . g.12758
GTAACAGCTTCTCCTGTTATTAAAGCAGTTACAAATTTCAAGCAG | ATTTCTAAAATATTG c.180
V T A S P V I K A V T N F K Q | I S K I L p.60
. . . . . . g.12818
GAAGAATTCGATGTTGAAGAACAATCAAGTACCATGTTAGGAAAACGCTTTCCCAACATT c.240
E E F D V E E Q S S T M L G K R F P N I p.80
. . . . | 04 . . g.16974
AAGGTTATAGAATCTGGCGTAAAGCAACTGAAGAGTGAAGAACAC | TGCATTGTAACAGAA c.300
K V I E S G V K Q L K S E E H | C I V T E p.100
. . . . . . g.17034
GATGGCAATCAGCACGTATATAAGAAACTCTGTCTGTGTGCTGGAGCTAAACCAAAGTTG c.360
D G N Q H V Y K K L C L C A G A K P K L p.120
. . . . . | 05 . g.19483
ATATGTGAAGGAAATCCTTATGTATTAGGAATCCGTGATACAGACAGTGCTCAG | GAATTT c.420
I C E G N P Y V L G I R D T D S A Q | E F p.140
. . . . . . g.19543
CAGAAACAGCTTACTAAAGCTAAAAGAATAATGATCATAGGGAACGGTGGTATTGCACTT c.480
Q K Q L T K A K R I M I I G N G G I A L p.160
| 06 . . . . . g.22580
GAGTTAGT | GTATGAAATTGAAGGCTGTGAAGTGATTTGGGCCATTAAAGATAAAGCTATA c.540
E L V | Y E I E G C E V I W A I K D K A I p.180
. . . . . . g.22640
GGGAATACTTTCTTCGATGCAGGAGCAGCTGAATTCTTGACTTCAAAGCTCATTGCTGAA c.600
G N T F F D A G A A E F L T S K L I A E p.200
. . . . | 07 . g.23402
AAATCAGAGGCTAAAATTGCACATAAAAGAACCAGATATACAACTGAAG | GAAGGAAAAAG c.660
K S E A K I A H K R T R Y T T E G | R K K p.220
. . . . . . g.23462
GAAGCTAGAAGCAAATCTAAAGCAGATAATGTAGGAAGTGCATTGGGACCAGATTGGCAT c.720
E A R S K S K A D N V G S A L G P D W H p.240
. . . | 08 . . . g.28451
GAAGGCTTGAATCTTAAAGGAACAAAAGAG | TTTTCTCATAAGATTCACCTTGAAACTATG c.780
E G L N L K G T K E | F S H K I H L E T M p.260
. . . . . . g.28511
TGTGAAGTAAAGAAAATCTACCTTCAGGATGAGTTTAGAATTTTGAAGAAAAAGTCCTTC c.840
C E V K K I Y L Q D E F R I L K K K S F p.280
. . . . | 09 . . g.29424
ACTTTTCCAAGAGACCATAAGTCAGTTACAGCTGATACAG | AGATGTGGCCTGTCTATGTG c.900
T F P R D H K S V T A D T E | M W P V Y V p.300
. . . . . . g.29484
GAATTGACCAATGAAAAGATATATGGCTGCGATTTCATTGTCAGTGCTACAGGAGTTACA c.960
E L T N E K I Y G C D F I V S A T G V T p.320
. . . | 10 . . . g.30163
CCAAATGTAGAACCTTTTCTCCATGGTAACAGT | TTTGATCTAGGAGAAGATGGTGGCCTG c.1020
P N V E P F L H G N S | F D L G E D G G L p.340
. . . . . . g.30223
AAAGTGGATGATCATATGCACACATCCCTTCCTGATATCTATGCTGCCGGTGACATCTGT c.1080
K V D D H M H T S L P D I Y A A G D I C p.360
. . . | 11 . . . g.34901
ACTACATCCTGGCAGCTGAGCCCAGTCTGGCAGCAG | ATGAGGCTGTGGACCCAGGCTAGA c.1140
T T S W Q L S P V W Q Q | M R L W T Q A R p.380
. . . . . . g.34961
CAGATGGGATGGTATGCAGCAAAGTGCATGGCTGCAGCGAGTTCAGGAGACTCTATTGAC c.1200
Q M G W Y A A K C M A A A S S G D S I D p.400
. . . . . | 12 . g.35908
ATGGATTTCAGCTTTGAACTGTTTGCTCATGTGACAAAATTTTTTAACTATAAG | GTTGTA c.1260
M D F S F E L F A H V T K F F N Y K | V V p.420
. . . . . . g.35968
CTGCTGGGAAAATACAATGCACAGGGCTTAGGTTCAGATCATGAATTAATGCTGAGATGT c.1320
L L G K Y N A Q G L G S D H E L M L R C p.440
. . . . . . g.36028
ACCAAAGGACGAGAATACATCAAAGTCGTCATGCAAAATGGACGAATGATGGGAGCTGTC c.1380
T K G R E Y I K V V M Q N G R M M G A V p.460
. . . . . . g.36088
TTAATTGGTGAAACCGATTTAGAAGAAACATTTGAAAACCTAATCTTAAACCAAATGAAT c.1440
L I G E T D L E E T F E N L I L N Q M N p.480
. . . . . . g.36148
CTTTCATCATATGGAGAAGATCTGCTAGATCCAAATATTGATATAGAAGATTATTTTGAC c.1500
L S S Y G E D L L D P N I D I E D Y F D p.500
g.36151
TAA c.1503
X p.500
. . . . . . g.36211
aaatggaatttcttcaggaatcatataaagttccaaatgacaccagaaaaatcacaagtc c.*60
. . . . . . g.36271
aataaaatgaatgactgtattgagttaatgatgaccacactgaaaattacagaagtgata c.*120
. . . . . . g.36331
atgatattagtggaaaaatataaaaacataaattctaagtttgaaatcagttcaaagttt c.*180
. . . . . . g.36391
atttatagatatatctttccaatacaacactgaccgcttagataaaaatcttaagttatt c.*240
. . . . . . g.36451
tatttctgtgttttaaacataaatatgtttacttgtgatttagctttggagcaaatttag c.*300
. . . . . . g.36511
gtaagttatctacttagccaaatgtactctagtagactagaaccattctttgtgaaatgt c.*360
. . . . . . g.36571
caaaatatggctatggtttcaggaactttaaaatcggttgtattttactttaaatagaga c.*420
. . . . . . g.36631
tgtagcaatatctcgtttgctaatatttatattgatgacttactccttttttgttgaatt c.*480
. . . . . . g.36691
gtacttctggttttataacctgaaatcatctacaagcttgtccaactctagcccacgggt c.*540
. . . . . . g.36751
ctaatgcagcccagaacagctttgaatgcagcccaacacaaatctgtaaactttcttaaa c.*600
. . . . . . g.36811
acatgagatttttcttgcaatttttttttttttaagctcatcagctatcgtcagtgttag c.*660
. . . . . . g.36871
catattttatgtgcggcccaagacaattcttcttccaatgtggctcagggaagccaaaag c.*720
. . . . . . g.36931
attggacatccctgatctacatatttaacttaaagtatcactcagtgaacctctgtcagt c.*780
. . . . . . g.36991
ataatattgctttcaaaaagatggttatgtcaaaagaaaaaatatagctaagtatataaa c.*840
. . . . . . g.37051
ggcataaaaaacttaagacaattacatgaacttattctcaaatattttacattttttgta c.*900
. . . . . . g.37111
aactttcttaaaacatgagatttttcttgcaattttttttttaagctcatcagctatcat c.*960
. . . . . . g.37171
cagtgttagcatattttatgtgcggcccaagacaattcttcttccaatgtggctcaggga c.*1020
. . . . . . g.37231
agccaaaagattggacatccttgatctacatatttaacttaaagtatcactcagtgagcc c.*1080
. . . . . . g.37291
tctgtcagtataatattgctttcaaaaagatagttatgtcaaaagaaaaaatatagctaa c.*1140
. . . . . . g.37351
gtatataaaggcataaaaaacttaagacgattgtatgaacttattctcaaatattttaca c.*1200
. . . . . . g.37411
tttaaagggttttacataaaaatttttcccttgttttatactggaaaattatataattca c.*1260
. . . . . . g.37471
tgatctctaattttcaaacattctcaaaagtttagatcttcagagataagctctgaaaat c.*1320
. . . . . . g.37531
atagatccatacatataaaatatctatgaaattcttttaaaaactattgtctaactacaa c.*1380
. . . . . . g.37591
aaataatggcatatacatgcataaaccatctttaattagaaaatttagtaacattcatat c.*1440
. . . . . . g.37651
caggcatcatcgatttttcttttcttagctcctgtattcttagaaccagattgctgaagc c.*1500
. . . . . . g.37711
atgtttgcagccttcttctggaagttgcctgaatttttttcctccatctttttatcacct c.*1560
. . . . . . g.37771
tgttcagaatgacaagtttgagacgattcagcctacaaaaaaaaaaaaaaaacaaagcaa c.*1620
. . . . . . g.37831
gcaccttggtaaaaatccagctattcagttttctcatgagattaaatatttcaaaatatt c.*1680
. . . . . . g.37891
ctttctgtatcagttggctttttaagtatacaggggtctagttttttatctacaaatttc c.*1740
. . . . . . g.37951
tattcaaatatgagctctattttgaataaaaggggctacgttgtgagagaagttctaaag c.*1800
. . . . . . g.38011
acctcaaatgtccttagacacaatggcacttgacttgacatgcttttgcagacttgatag c.*1860
. . . . . . g.38071
tatttggtttaaaacagtggtttctaaccactggaacagcagaaacagacttctcaacta c.*1920
. . . . . . g.38131
ttagtaatcacaaccaaataagagcagagtgcataacaaaattagatattcaaacggagt c.*1980
. . . . . . g.38191
cctcccattccaagaaactggaaacccctagtttatgttaaaaggccagtctaaattctt c.*2040
. . . . . . g.38251
tcacttacatctttacagaaaactatattttctctcttccatacccagaaatctaatcag c.*2100
. . . . . . g.38311
aaaactgacttttctcatgttcaactggacctaggggaatatgacagaaaagcatcccat c.*2160
. . . . . . g.38371
aggctttaatatactttttaaaatatataaaactgaaaattaatagccatttaccctgaa c.*2220
. . . . . . g.38431
agagttctgcgtggactttgtcacttgcatagtaatagcatgtgcctcattgttcagaag c.*2280
. . . . . . g.38491
attagctttaggtcctattttcaaatacgaaatggtagcataagctgtaaaactgtagtc c.*2340
. . . . . . g.38551
ttctctgcagaaaataaaggccaacaataagaaagcttttgaaggaatcacggaaaacaa c.*2400
. . . . . . g.38611
atttataaaagaaataactatatgcgcagtaattcttaacacattgacttgaaataataa c.*2460
. . . g.38647
aatttacaagaatgcaaataaagcctttaaagaaaa c.*2496
(downstream sequence)
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