(used for variant description)
(last modified March 26, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_003681.4 in the PDXK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000021.8, covering PDXK transcript NM_003681.4.
(upstream sequence)
. g.5018
cggaactcgcgggttcgg c.-181
. . . . . . g.5078
agccgcccgctgaggtcagaaggaggcgtctgcgctgatcgggtccgccgcgcgccagag c.-121
. . . . . . g.5138
ccagagtcgcagccgaggggagccggggccggagcccgagcccgagccgagccggagccc c.-61
. . . . . . g.5198
gagcgagcggcggagaccgtgcccccgcctcggccccgcgccgccgcggccaggcccggc c.-1
. . . . . . g.5258
ATGGAGGAGGAGTGCCGGGTGCTCTCCATACAGAGCCACGTCATCCGCGGCTACGTGGGC c.60
M E E E C R V L S I Q S H V I R G Y V G p.20
. . | 02. . . . g.20005
AACCGGGCGGCCACGTTCCCGCTGCAG | GTTTTGGGATTTGAGATTGACGCGGTGAACTCT c.120
N R A A T F P L Q | V L G F E I D A V N S p.40
. . | 03 . . . . g.27608
GTCCAGTTTTCAAACCACACAG | GCTATGCCCACTGGAAGGGCCAAGTGCTGAATTCAGAT c.180
V Q F S N H T G | Y A H W K G Q V L N S D p.60
. . . . . . g.27668
GAGCTCCAGGAGTTGTACGAAGGCCTGAGGCTGAACAACATGAATAAATATGACTACGTG c.240
E L Q E L Y E G L R L N N M N K Y D Y V p.80
| 04. . . . . . g.29680
CTCACAG | GTTATACGAGGGACAAGTCGTTCCTGGCCATGGTGGTGGACATTGTGCAGGAG c.300
L T G | Y T R D K S F L A M V V D I V Q E p.100
. . . | 05 . . . g.32011
CTGAAGCAGCAGAACCCCAGGCTGGTGTACG | TGTGTGATCCAGTCTTGGGTGACAAGTGG c.360
L K Q Q N P R L V Y V | C D P V L G D K W p.120
. | 06 . . . . g.34940
GACGGCGAAGGCTCGATG | TACGTCCCGGAGGACCTCCTTCCCGTCTACAAAGAAAAAGTG c.420
D G E G S M | Y V P E D L L P V Y K E K V p.140
. . . . | 07 . . g.36419
GTGCCGCTTGCAGACATTATCACGCCCAACCAGTTTGAGGCCGA | GTTACTGAGTGGCCGG c.480
V P L A D I I T P N Q F E A E | L L S G R p.160
. . . | 08 . . . g.38451
AAGATCCACAGCCAGGAGGAAGCCTTGCGG | GTGATGGACATGCTGCACTCTATGGGCCCC c.540
K I H S Q E E A L R | V M D M L H S M G P p.180
. . . . . . g.38511
GACACCGTGGTCATCACCAGCTCCGACCTGCCCTCCCCGCAGGGCAGCAACTACCTGATT c.600
D T V V I T S S D L P S P Q G S N Y L I p.200
. . | 09 . . . . g.39524
GTGCTGGGGAGTCAGAGGAGGA | GGAATCCCGCTGGCTCCGTGGTGATGGAACGCATCCGG c.660
V L G S Q R R R | N P A G S V V M E R I R p.220
. . . . . . g.39584
ATGGACATTCGCAAAGTGGACGCCGTCTTTGTGGGCACTGGGGACCTGTTTGCTGCCATG c.720
M D I R K V D A V F V G T G D L F A A M p.240
. . . | 10 . . g.41622
CTCCTGGCGTGGACACACAAGCACCCCAATAACCTCAAG | GTGGCCTGTGAGAAGACCGTG c.780
L L A W T H K H P N N L K | V A C E K T V p.260
. . . . | 11 . . g.41868
TCTACCTTGCACCACGTTCTGCAGAGGACCATCCAGTGTGCAAAAG | CCCAGGCCGGGGAA c.840
S T L H H V L Q R T I Q C A K A | Q A G E p.280
. . . . . . g.41928
GGAGTGAGGCCCAGCCCCATGCAGCTGGAGCTGCGGATGGTGCAGAGCAAAAGGGACATC c.900
G V R P S P M Q L E L R M V Q S K R D I p.300
. . . g.41967
GAGGACCCAGAGATCGTCGTCCAGGCCACGGTGCTGTGA c.939
E D P E I V V Q A T V L X p.312
. . . . . . g.42027
gggccccgccgcttgcccgtgacacgcagcgcgttggtgtctccgtgtttgtccctgtga c.*60
. . . . . . g.42087
aaacatgtaacgtctgccttagagccatgaccgaaacttgatatttttttctttcatgag c.*120
. . . . . . g.42147
tgtccggcatctgctggtcttcattgtgaaacgtgccagtcgtgctttgtgaaaaataac c.*180
. . . . . . g.42207
aaagtggtcacagaaatttgtgatctgaaaacccggctcccttccccacaaggctcctgg c.*240
. . . . . . g.42267
gcctccgggaagacgggcccctgtttgccatctcgggggtgttccctgtgggagggtgag c.*300
. . . . . . g.42327
tgggtgaggccgagcctgctgcgtgtggagcctcgagtgggccctggctgccactaccgt c.*360
. . . . . . g.42387
acagaggccgtgtcgcgctgggctgggcctgggtggcctctgtctttgcatctctgagaa c.*420
. . . . . . g.42447
ggagtcgggtggtaacggttggggtcaggaagaattctgccaagtatctttactgtcatt c.*480
. . . . . . g.42507
ctgaccatagcctctttgttcccgcattcgaacttttggttcttactttgctgctcgttt c.*540
. . . . . . g.42567
agtccctggggatttcagatcttaggctgttgtttcaccgtatgggagggttgatgtgag c.*600
. . . . . . g.42627
cttgcttggagacacacggtgcagcatcagggaccttcccaggccccagcaaattcaagt c.*660
. . . . . . g.42687
cggtctgcagacctctcagctacccgcgggacctcttgtaacccatcggcatcttccagg c.*720
. . . . . . g.42747
aatccgccgagtgacttgaggaagatgctaacgcagtaaggtctgtgctgggccaagagc c.*780
. . . . . . g.42807
agctttgaagctccagagaaccaccccgtcaggttccttgtggaagctcccctcatccgt c.*840
. . . . . . g.42867
ggtgcagcaggctgagcactgcgcgtttgccacgtgctgcccgtgacagcacattgagcc c.*900
. . . . . . g.42927
acagcatttgtagacaggacagaggggtgcctgccccctgcccctgctggcacatttaac c.*960
. . . . . . g.42987
ccttgtcccctgacctcagttctgtgccccaccaaatgcccaggggcaagaggccaccct c.*1020
. . . . . . g.43047
ggaagctgccaatcttccaaggtgggtgtggggcacggtgggggcgggcagctcccaggc c.*1080
. . . . . . g.43107
ccttgggcaggctggggtgacggcagaggccacagcaccagctctgacaagtcctatcat c.*1140
. . . . . . g.43167
cctctgctcagcagtgacctccctggccccactttgcccagagtttggggtccccccagg c.*1200
. . . . . . g.43227
tatagctataggcggcagtgcctgtccctggcctgccttgatttcagccacacccctgca c.*1260
. . . . . . g.43287
gccctgcatcccagctctggggtgtgcagaggtttgtgtctccagggaacccacggctgg c.*1320
. . . . . . g.43347
agagaaatagggagatgcaggaagtgggggcccatggggcccccaagaagcggactctcc c.*1380
. . . . . . g.43407
aaggggtacccccaccccgctaccttccccacggacgggcccctcctggagcccataccc c.*1440
. . . . . . g.43467
tcctgtgaggccattccagtgtcttctagaaagactcgcttgccaggagtgcgttctttg c.*1500
. . . . . . g.43527
ttgaaaaatgccctgaagcgaaaagatgcaggtttatatggaacccccaccccctccccc c.*1560
. . . . . . g.43587
actctcccactctgttcgttctgaatgtcttcacgagcgtgcatcagggcgcctggctcc c.*1620
. . . . . . g.43647
cccacctcagccagtgagtcagacacgggtttcgcagccatgtttcctggctccgaggac c.*1680
. . . . . . g.43707
acgggtggcaggcccgttgcagcccagagccactggtccctacagggcgccgccacacca c.*1740
. . . . . . g.43767
gcaggaaggaggatggctgtgtccggagcctggcggggaggcggcctccccagtatgtga c.*1800
. . . . . . g.43827
gtgcagggatctgccagaaccacctggccctctgtagggcgtttaactggaaataccctc c.*1860
. . . . . . g.43887
actgccaagtggagactggggcgtgtgccacattgccagccaccaggaaagcttttcttt c.*1920
. . . . . . g.43947
ttcttttttttttttttttaaacaccaagagcacgtatagcatgggggaaagaacctaaa c.*1980
. . . . . . g.44007
tgtctctctgtcctgtgagctggtgaaaaacccagcatgagaacgcagtgtcaggtgtgg c.*2040
. . . . . . g.44067
gactccttctgcccctgcagtgggtgttacgggcggtgtgccctggcgagcaagctttga c.*2100
. . . . . . g.44127
ttcttggttctttgagctcgtttcagaggctgagtccccacatcagctttagttcttgga c.*2160
. . . . . . g.44187
cttccctgtattaagcaagaattaggagaatggctgtccctgcaggcgcctcccgtaaat c.*2220
. . . . . . g.44247
cctgagctctctggcgcaatctgaaacttctcttctgttttctttggctgtatcagccga c.*2280
. . . . . . g.44307
accaggagaggcctgggctgcgactaaggagaaagaaatcgggggtttctgagagcagat c.*2340
. . . . . . g.44367
ggtgcctttgtgggtgcagggcttttgtggaaattgtcagcctctacgggcagagtccgg c.*2400
. . . . . . g.44427
catcccctccccagactgcctgctgtcaaaccacggagcagctggagcctgccctgtcca c.*2460
. . . . . . g.44487
cggcccgtttccacccgggcatgttcgtctctcctgacttcggcagaggcccctggtggc c.*2520
. . . . . . g.44547
cttcagtttcagtttctcatccaggaaggtaaccttgggcattggcagtgggtttcccta c.*2580
. . . . . . g.44607
tggcttggatccagattagaattgatctttgttttcactttccatagttaataacatgca c.*2640
. . . . . . g.44667
aaataatgagaagaatttattttaaggtgacagctatactggtccaacatcgcctgctta c.*2700
. . . . . . g.44727
ttgtcagggtacagaagtttaatactttcttaatccagtttttcaaacttctccctgtag c.*2760
. . . . . . g.44787
accgtaaggatgaattccacaataggatcctttttaaaatcgattttaaattgttgccta c.*2820
. . . . . . g.44847
gtcctgccaaggttattatgtgcatctgttatttttccaatacatgtaaacagttgcagc c.*2880
. . . . . . g.44907
atgatgctttgtttaatgtcctgttcttaagctcgttagagccagttttgaaacgtttgg c.*2940
. . . . . . g.44967
tcttaccgtgaacggaggctggcttggcttagccacgctgatgagtaagtgagggatgtc c.*3000
. . . . . . g.45027
tccatcttgagatcaccaggcaagagagttgcctgcaccaggtaagaggccaaagcccct c.*3060
. . . . . . g.45087
ggggtaacagtccccaccgctacccgaggtaaaacaataaaagctatgtggttgagctca c.*3120
. . . . . . g.45147
ggcctctcgtgcctggtgtcagagaaggcagagcccacagtaggtgcacggtgcaaggcc c.*3180
. . . . . . g.45207
ctgggagggcactggccagggaaggtggtatagatggccctcagattgcggggccccgag c.*3240
. . . . . . g.45267
cagctccccactctgcccgtccaccttccctggctccagcctcattctctctttagttta c.*3300
. . . . . . g.45327
actatgcaaagagaggaggttgagagtgttctggcagctggagctcttttccttgtcctt c.*3360
. . . . . . g.45387
cctgccctccgatggggccacctgtgtcggggcagcagtgtccatgtttatggagatcag c.*3420
. . . . . . g.45447
aggtgtccccactgtgtggctggactgtactctgctgcccgggtagccaggagtctctcc c.*3480
. . . . . . g.45507
ctctctcccctgccgcctgcctggtctcatgggcctccttcacacacccctccctgtgga c.*3540
. . . . . . g.45567
tcgcctgcctgggcccagagcaggggaactggagtttgtgagtgagcagagcaggttatg c.*3600
. . . . . . g.45627
tgcagacagggaaacgagaactttggacctggctttctgagtccaggtgagagctgtgtg c.*3660
. . . . . . g.45687
gccccccgatgccactctgcccgccggagggatgtgcctgctgagccttttccttccacg c.*3720
. . . . . . g.45747
ccgcctctcactgccaggccagcggcttccgctgagactcgctggagaggcggctcccgt c.*3780
. . . . . . g.45807
gtccgtccaccgagcactcagatggatgctgatcaccagggccgagggggctcccagaag c.*3840
. . . . . . g.45867
gaccccaggccctggggagggtggctgtgggaggccaagtccactgcccggaagtcttgt c.*3900
. . . . . . g.45927
cagccctaagccagggaagcctggagcgtggcctggcgggtctgggtggacaccgtcccc c.*3960
. . . . . . g.45987
actccggactcccagcacaggggaggatacctgagcctgtatggccctgtagccctgggc c.*4020
. . . . . . g.46047
agagctgggcctgtcgtgtgttcctgcctggcaggtgcaggtgctggccatctgcaggtg c.*4080
. . . . . . g.46107
gaaggaggtgggaatcttggattttttgtttttttttgtttttttttttttgaggtgaag c.*4140
. . . . . . g.46167
tctcgctctgacacccaggctggcgtgcagtggtgtgatctcggctcactgcaaactccg c.*4200
. . . . . . g.46227
cttcctgggttcaagtggttctcctgccccagcctcccaagtagctgggattacaggcat c.*4260
. . . . . . g.46287
gcgccaccacgctcagctgatttttgtatttttagtagagatggggtttcaccatgttgg c.*4320
. . . . . . g.46347
ccaagctggtctcaaactcctgacctcaagtgatctgcccgcctcggcctcccagagtgc c.*4380
. . . . . . g.46407
tgggattacaggcatgagccagtgcacccggcggaatcttggaatttttatagacagcac c.*4440
. . . . . . g.46467
ctcagtttctgactccagccgcacacctcctgcctctgccagcaggggttgccgccagac c.*4500
. . . . . . g.46527
cagagccagggccaggtccctgcgtccatcccccccggtaggatggacgtgagccatcct c.*4560
. . . . . . g.46587
tctaggggacttttttcagtgtgcgactcgtctctgttaggtggtaggagccagtttgtg c.*4620
. . . . . . g.46647
tggcctgtgccacgctccacagtgcgtggctgggctctgtgtgtggcctgtgtcccctgt c.*4680
. . . . . . g.46707
ccctgcaggacccagcaggcatcgtggcgtgacagctgtgtccaagccactgcccgggca c.*4740
. . . . . . g.46767
tcccatcacccaccagggtgcacggtctctcctgctgggggctttctgtcgcatgtgtgt c.*4800
. . . . . . g.46827
ctcctgtcgactctgcagtttgttctcagagcagaatgtttcctgttctcagtgcacaaa c.*4860
. . . . . . g.46887
gacactggttttcaatcggcgtctaaaaccacgttcctgcctttcattgcaacacggtgt c.*4920
. . . . . . g.46947
gttcatttgtttaaaacagtttaatgagtaagtttagatgactggtcaatatcttaaaaa c.*4980
. . . . . . g.47007
tgtatattagtaagaagttcttcctggaatttttctttcgattctggcagaataaacagg c.*5040
. . . . . . g.47067
tgtttttagttttcccactgtctgagccaagcaggaccctgtcccagagcaagagatgtc c.*5100
. . . . . . g.47127
cccttccatctctgacccttgcctgggacaagctttgatggggggccccagcttcaaggc c.*5160
. . . . . . g.47187
tgtggtgggaacagcacccccaaatgccagcctctcctttcttcccatccaccagtatac c.*5220
. . . . . . g.47247
tgcggggccatttctggtctttgtccaacaggaaacccatttctggtgggatatgccttc c.*5280
. . . . . . g.47307
cagtgccacagggccactcaccccatgcatctctgtcctgcccgtcagtgctgggacgga c.*5340
. . . . . . g.47367
cagcaagggcaagcccagtgtctggcggataggtgggtgggaacagagaggggagaatgc c.*5400
. . . . . . g.47427
cgtcctaagcttctgcttggggatcccccacacgacctgggtactgcctgggaaacctgt c.*5460
. . . . . . g.47487
cctaagtaaaactatggacctcgcctcgcccaccggcctgcgaagccagcatctccgtga c.*5520
. . . . . . g.47547
aggtggatggaagcgcctttgtcctcattttgagctgcaagctgggtcagcggctctgaa c.*5580
. . . . . . g.47607
gccctcgagtgactttctaacccaagacccagcccctggcaggaggagggtgggtgcagg c.*5640
. . . . . . g.47667
gctggtgggacaaaaagaggcctcagcaggcctggaagacccttccagtacatcccacag c.*5700
. . . . . . g.47727
cgtgtcgagcagctgggagaacctgtgtcaagctcgagccgtcataggtccccatgaggt c.*5760
. . . . . . g.47787
gtctgaagccccttcttggtgatgggaggcagaggtgctgacgttctggagcatggacgt c.*5820
. . . . . . g.47847
gagtcctcagctggctccgcgtgggcccttggagggtgccaggtgtgtggtgaccttctg c.*5880
. . . . . . g.47907
gatgcctttaacttcatggctgcgtcattcctgatttagaactttaaccggagcttcatc c.*5940
. . . . . . g.47967
tagtgattgcaaaactggaccaatgggaggacggcggcgcagcccgctccctccgtggaa c.*6000
. . . . . . g.48027
tggagctcagctcttcggaggcatcaaagcacctgtcgcctccgtggtccccctgctgag c.*6060
. . . . . . g.48087
ggagtgcggcctctgcaaggttcgggggtggcttcgtttgcctggagtggccggccctgc c.*6120
. . . . . . g.48147
ttgtgccatgtggatgtttgtgagcctcggtcctacagcactgtgtaggctgcatctgtt c.*6180
. . . . . . g.48207
tcgtgctggtcctgttgacttgtatgatatccacaaataaatattttcatggcggtcgtg c.*6240
g.48211
ttga c.*6244
(downstream sequence)
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