(used for variant description)
(last modified June 29, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_152305.2 in the POGLUT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_034115.1, covering POGLUT1 transcript NM_152305.2.
(upstream sequence)
. . g.5024
gtgctgcggctcccgggccatctt c.-61
. . . . . . g.5084
tgtgcggggccgcgcttccgccagcgccgcagcggggaatctgcagtaggtctgccggcg c.-1
. . . . . . g.5144
ATGGAGTGGTGGGCTAGCTCGCCGCTTCGGCTCTGGCTGCTGTTGTTCCTCCTGCCCTCA c.60
M E W W A S S P L R L W L L L F L L P S p.20
. . | 02 . . . . g.5917
GCGCAGGGCCGCCAGAAGGAGTCAG | GTTCAAAATGGAAAGTATTTATTGACCAAATTAAC c.120
A Q G R Q K E S G | S K W K V F I D Q I N p.40
. . . . . | 03 . g.7375
AGGTCTTTGGAGAATTACGAACCATGTTCAAGTCAAAACTGCAGCTGCTACCATGG | TGTC c.180
R S L E N Y E P C S S Q N C S C Y H G | V p.60
. . . . . . g.7435
ATAGAAGAGGATCTAACTCCTTTCCGAGGAGGCATCTCCAGGAAGATGATGGCAGAGGTA c.240
I E E D L T P F R G G I S R K M M A E V p.80
. . . . . . g.7495
GTCAGACGGAAGCTAGGGACCCACTATCAGATCACTAAGAACAGACTGTACCGGGAAAAT c.300
V R R K L G T H Y Q I T K N R L Y R E N p.100
. . | 04 . . . . g.13415
GACTGCATGTTCCCCTCAAG | GTGTAGTGGTGTTGAGCACTTTATTTTGGAAGTGATCGGG c.360
D C M F P S R | C S G V E H F I L E V I G p.120
. . . . . . g.13475
CGTCTCCCTGACATGGAGATGGTGATCAATGTACGAGATTATCCTCAGGTTCCTAAATGG c.420
R L P D M E M V I N V R D Y P Q V P K W p.140
. . . | 05 . . . g.16137
ATGGAGCCTGCCATCCCAGTCTTCTCCTTCAGTAAG | ACATCAGAGTACCATGATATCATG c.480
M E P A I P V F S F S K | T S E Y H D I M p.160
. . . . . . g.16197
TATCCTGCTTGGACATTTTGGGAAGGGGGACCTGCTGTTTGGCCAATTTATCCTACAGGT c.540
Y P A W T F W E G G P A V W P I Y P T G p.180
. . . | 06 . . g.21412
CTTGGACGGTGGGACCTCTTCAGAGAAGATCTGGTAAG | GTCAGCAGCACAGTGGCCATGG c.600
L G R W D L F R E D L V R | S A A Q W P W p.200
. . . | 07 . . g.22917
AAAAAGAAAAACTCTACAGCATATTTCCGAGGATCAAG | GACAAGTCCAGAACGAGATCCT c.660
K K K N S T A Y F R G S R | T S P E R D P p.220
. . . . . . g.22977
CTCATTCTTCTGTCTCGGAAAAACCCAAAACTTGTTGATGCAGAATACACCAAAAACCAG c.720
L I L L S R K N P K L V D A E Y T K N Q p.240
. | 08 . . . . g.25033
GCCTGGAAATCTATGAAA | GATACCTTAGGAAAGCCAGCTGCTAAGGATGTCCATCTTGTG c.780
A W K S M K | D T L G K P A A K D V H L V p.260
. | 09. . . . . g.26656
GATCACTGCAAATACAA | GTATCTGTTTAATTTTCGAGGCGTAGCTGCAAGTTTCCGGTTT c.840
D H C K Y K | Y L F N F R G V A A S F R F p.280
. . . . . . g.26716
AAACACCTCTTCCTGTGTGGCTCACTTGTTTTCCATGTTGGTGATGAGTGGCTAGAATTC c.900
K H L F L C G S L V F H V G D E W L E F p.300
. . . . . . g.26776
TTCTATCCACAGCTGAAGCCATGGGTTCACTATATCCCAGTCAAAACAGATCTCTCCAAT c.960
F Y P Q L K P W V H Y I P V K T D L S N p.320
| 10 . . . . . . g.27635
GTCCA | AGAGCTGTTACAATTTGTAAAAGCAAATGATGATGTAGCTCAAGAGATTGCTGAA c.1020
V Q | E L L Q F V K A N D D V A Q E I A E p.340
| 11 . . . . . . g.28402
AG | GGGAAGCCAGTTTATTAGGAACCATTTGCAGATGGATGACATCACCTGTTACTGGGAG c.1080
R | G S Q F I R N H L Q M D D I T C Y W E p.360
. . . . . . g.28462
AACCTCTTGAGTGAATACTCTAAATTCCTGTCTTATAATGTAACGAGAAGGAAAGGTTAT c.1140
N L L S E Y S K F L S Y N V T R R K G Y p.380
. . . g.28501
GATCAAATTATTCCCAAAATGTTGAAAACTGAACTATAG c.1179
D Q I I P K M L K T E L X p.392
. . . . . . g.28561
tagtcatcataggaccatagtcctctttgtggcaacagatctcagatatcctacggtgag c.*60
. . . . . . g.28621
aagcttaccataagcttggcacctataccttgaatatctgctatcaagccaaatacctgg c.*120
. . . . . . g.28681
ttttccttatcatgctgcacccagagcaactcttgagaaagatttaaaatgtgtctaata c.*180
. . . . . . g.28741
cactgatatgaagcagttcaactttttggatgaataaggaccagaaatcgtgagatgtgg c.*240
. . . . . . g.28801
attttgaacccaactctacctttcattttcttaagaccaatcacagcttgtgcctcagat c.*300
. . . . . . g.28861
catccacctgtgtgagtccatcactgtgaaattgactgtgtccatgtgatgatgcccttt c.*360
. . . . . . g.28921
gtcccattatttggagcagaaaattcgtcatttggaagtagtacaactcattgctggaat c.*420
. . . . . . g.28981
tgtgaaattattcaaggcgtgatctctgtcactttattttaatgtaggaaaccctatggg c.*480
. . . . . . g.29041
gtttatgaaaaatacttggggatcattctctgaatggtctaaggaagcggtagccatgcc c.*540
. . . . . . g.29101
atgcaatgatgtaggagttctcttttgtaaaaccataaactgtgttactcaggaggtttc c.*600
. . . . . . g.29161
tataatgccacatagaaagaggccaattgcatgagtaattattgcaattggatttcaggt c.*660
. . . . . . g.29221
tccctttttgtgccttcatgccctacttcttaatgcctctctaaagccaaaaaaaaaaaa c.*720
. . . . . . g.29281
aaagacaaagcctcttaataaatttaatggaactatacatagaacagcagctcttcctca c.*780
. . . . . . g.29341
ccctttgcatacctttaatatttttccttcttaaattggccacagcaggggtcattcaca c.*840
. . . . . . g.29401
ctctcactgtcttgcaggaatcacaagaagtcttcatatgtgaacgtgccattcagttgg c.*900
. . . . . . g.29461
tagttaagagcattcaacttcaaatatatagaagatatttgttttagtgcaaatccatga c.*960
. . . . . . g.29521
tggagtgcctcccttttccttttttcactttttgaaaaagatgttttgggtagtagttta c.*1020
. . . . . . g.29581
atatctcagggtgctctttctaacatagtaaaaaatgaagaaaaatgtttagattaaaac c.*1080
. . . . . . g.29641
tctgtagtctgatgacttagaaccatccttgacccttaggcccaacctttccacagagaa c.*1140
. . . . . . g.29701
atcacctctcttcctttgtcttttaagaactatttggtattaactagtttcagaattagt c.*1200
. . . . . . g.29761
aaatgtgagattcagtcacataattatcagacattccatttgtcagaaatgtatttggct c.*1260
. . . . . . g.29821
ttttaaactcctttccacaaaagtttaagtctaatgaccttcttagagaagttgagcatg c.*1320
. . . . . . g.29881
cctggcaagatcatttcatggaataagcagatgtttaaagttggattttttttttttttt c.*1380
. . . . . . g.29941
ttttttgagtactagcaatgcacagggaccgtgttcttaggttcttagtctgtgaatcta c.*1440
. . . . . . g.30001
gcaataggcagtccagatttctgagtcgtactatggttttgccttgtcactgtgaggccc c.*1500
. . . . . . g.30061
tactaggtgtaagcattctctctgaattttaatttcctctcattaaaataggaacaaaat c.*1560
. . . . . . g.30121
ttgctatcctttagattaggagctgaagattcatttccctgggaatgtttcccatttagc c.*1620
. . . . . . g.30181
ttcaagtttcagctcaaacatcaccttctttctgactcctttcattcattcctccaggca c.*1680
. . . . . . g.30241
gtaaggggctaccatagtactttgtttatgcctgtattatatgacatcactgtagttgct c.*1740
. . . . . . g.30301
tgactgtttctcctactgttctgtaaacttattaatgggtgagaatctaattttactcat c.*1800
. . . . . . g.30361
cttgatggcttcatgatccagcacagtgcctcacacaaagaactattgggtgggtggatg c.*1860
. . . . . . g.30421
gatggatggaggaatggagacagttggcttaaccagatcctatatacagattattactgg c.*1920
. . . . . . g.30481
ctccaaaggatgagtagataagaccataagaattggatcaatgtaaatcctcacctgccc c.*1980
. . . . . . g.30541
tttgaagagccaataagggcatctttgtctttaaatacagcaaatgttattcagattttg c.*2040
. . . . . . g.30601
tacttgtctatctgtttacctcagtgtagatgatatgaggatggtataactatgtaaatt c.*2100
. . . . . . g.30661
gtttttgaaaataatttgtttccccacaacttttgaaggttttatttgttgttgttatta c.*2160
. . . . . . g.30721
ctagttcagtcccaaacttaccctttccttttcagagagctaatggccatgcttttcttc c.*2220
. . . . . g.30771
aaggaaagaataatttatttgaatgaagtgggatacttgcataacacaaa c.*2270
(downstream sequence)
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