(used for variant description)
(last modified February 6, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_015723.3 in the PNPLA8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_042172.1, covering PNPLA8 transcript NM_015723.3.
(upstream sequence)
. . . . . g.6894
gtcatgctctattgcgcatatctcggggcgggggaggaacggagattgaca c.-481
. . . . . . g.6954
aggaggcagaggcctgagcgaggcggaaaatcctcaccccggcccgcgggtagacccaaa c.-421
. . . . . . g.7014
cttctagcgcgtcacttccgctgggggcggagcggggcggggctgagtgggtggcgacct c.-361
. . . . . . g.7074
agctgctgcgccagtgtttgtgttggaagctcagctgatgcaggccggttggagtggacg c.-301
. . . . . . | 02 g.11641
tcattgccgggaacgagcgagtcgccgctgcagccctagtgactgcggcctgcatcccg | a c.-241
. . . . . | 03 . g.14875
ttgtcttctcctccaaggtctacatgattacctgaagtttaataa | ttttgcctttctaga c.-181
. . . . . . g.14935
gtgttatacagctggaatcatactgctatggtccgaatgtttgtgcctctcaaaattcat c.-121
. . . . | 04 . . g.17610
gtggaaatcataaccgctaaagtgatggtattaagag | gtaagaccatgaattatggcatt c.-61
. . . . . . g.17670
tcttaaatgaagcgttcaagaagtgagagaatgtcatagaaaataaatgatttttaagtt c.-1
. . . . . . g.17730
ATGTCTATTAATCTGACTGTAGATATATATATTTACCTCCTTAGTAATGCAAGAAGTGTT c.60
M S I N L T V D I Y I Y L L S N A R S V p.20
. . . . . . g.17790
TGTGGGAAGCAGAGAAGCAAGCAACTGTATTTCTTGTTCTCACCTAAGCATTACTGGAGG c.120
C G K Q R S K Q L Y F L F S P K H Y W R p.40
. . . . . . g.17850
ATAAGCCACATCAGTCTACAAAGAGGTTTTCATACAAACATAATAAGATGTAAATGGACC c.180
I S H I S L Q R G F H T N I I R C K W T p.60
. . . . . . g.17910
AAAAGTGAAGCACATTCTTGCAGTAAGCACTGTTACTCTCCAAGCAACCATGGTTTACAT c.240
K S E A H S C S K H C Y S P S N H G L H p.80
. . . . . . g.17970
ATTGGGATTTTGAAACTTAGCACTTCTGCTCCCAAGGGACTTACAAAAGTGAACATTTGT c.300
I G I L K L S T S A P K G L T K V N I C p.100
. . . . . . g.18030
ATGTCCCGTATTAAAAGTACTTTGAACTCTGTTTCAAAGGCTGTTTTTGGCAATCAAAAT c.360
M S R I K S T L N S V S K A V F G N Q N p.120
. . . . . . g.18090
GAAATGATTTCACGTTTAGCTCAATTTAAGCCAAGTTCCCAAATTTTAAGAAAAGTATCG c.420
E M I S R L A Q F K P S S Q I L R K V S p.140
. . . . . . g.18150
GATAGTGGCTGGTTAAAACAGAAAAACATCAAACAAGCCATCAAATCTCTGAAAAAATAT c.480
D S G W L K Q K N I K Q A I K S L K K Y p.160
. . . . . . g.18210
AGTGACAAATCAGCAGAAAAGAGTCCTTTTCCAGAAGAGAAAAGTCACATTATAGACAAA c.540
S D K S A E K S P F P E E K S H I I D K p.180
. . . . . . g.18270
GAAGAAGATATAGGTAAACGCAGTCTTTTTCATTACACAAGTTCTATAACCACAAAATTT c.600
E E D I G K R S L F H Y T S S I T T K F p.200
. . . . . . g.18330
GGAGACTCATTCTACTTTTTATCAAATCATATTAATTCATATTTCAAACGTAAGGAAAAA c.660
G D S F Y F L S N H I N S Y F K R K E K p.220
. . . . . . g.18390
ATGTCTCAACAAAAGGAAAATGAACATTTCCGGGACAAATCAGAACTTGAAGATAAAAAG c.720
M S Q Q K E N E H F R D K S E L E D K K p.240
. . . . . . g.18450
GTAGAAGAGGGGAAATTAAGATCTCCAGATCCTGGCATCCTGGCTTATAAGCCAGGCTCA c.780
V E E G K L R S P D P G I L A Y K P G S p.260
. . . . . . g.18510
GAATCTGTACATACGGTGGACAAGCCTACAAGTCCTTCTGCGATACCTGATGTTCTTCAA c.840
E S V H T V D K P T S P S A I P D V L Q p.280
. . . . . . g.18570
GTTTCAACTAAACAAAGTATTGCTAACTTTCTTTCTCGTCCCACGGAAGGTGTACAAGCT c.900
V S T K Q S I A N F L S R P T E G V Q A p.300
. . . . . . g.18630
TTAGTAGGTGGTTATATTGGTGGACTTGTCCCCAAATTAAAGTATGATTCAAAGAGTCAG c.960
L V G G Y I G G L V P K L K Y D S K S Q p.320
. . . . . . g.18690
TCAGAAGAACAGGAAGAGCCTGCTAAAACTGATCAGGCTGTCAGCAAAGACAGAAATGCA c.1020
S E E Q E E P A K T D Q A V S K D R N A p.340
. . . | 05 . . . g.18892
GAGGAGAAAAAGCGTTTATCTCTTCAGCGAGAAAAG | ATTATCGCAAGGGTGAGTATTGAT c.1080
E E K K R L S L Q R E K | I I A R V S I D p.360
. . . . . . g.18952
AACAGGACCCGGGCATTAGTTCAGGCATTAAGAAGAACAACTGACCCAAAGCTCTGCATT c.1140
N R T R A L V Q A L R R T T D P K L C I p.380
. . . . . . g.19012
ACTAGGGTTGAAGAACTGACTTTTCATCTTCTAGAATTTCCTGAAGGAAAAGGAGTGGCT c.1200
T R V E E L T F H L L E F P E G K G V A p.400
| 06 . . . . . . g.30573
GTCAAG | GAAAGAATTATTCCATATTTATTACGACTGAGACAAATTAAGGATGAAACTCTT c.1260
V K | E R I I P Y L L R L R Q I K D E T L p.420
. . . . . . g.30633
CAGGCTGCAGTTAGAGAAATTTTGGCCCTAATTGGCTATGTGGATCCAGTGAAAGGGAGA c.1320
Q A A V R E I L A L I G Y V D P V K G R p.440
. . . | 07 . . g.35606
GGAATCCGAATTCTCTCAATTGATGGTGGAGGAACAAG | GGGCGTGGTTGCTCTCCAGACC c.1380
G I R I L S I D G G G T R | G V V A L Q T p.460
. . . . . . g.35666
CTACGAAAATTAGTTGAACTTACTCAGAAGCCAGTTCATCAGCTCTTTGATTACATTTGT c.1440
L R K L V E L T Q K P V H Q L F D Y I C p.480
. | 08 . . . . . g.36453
GGTGTAAGCACAG | GTGCCATATTAGCTTTCATGTTGGGGTTGTTTCATATGCCCTTGGAT c.1500
G V S T G | A I L A F M L G L F H M P L D p.500
. . . . . . g.36513
GAATGTGAGGAACTTTATCGAAAATTAGGATCAGATGTATTTTCACAAAATGTCATTGTT c.1560
E C E E L Y R K L G S D V F S Q N V I V p.520
. . . . . . g.36573
GGAACAGTAAAAATGAGTTGGAGCCATGCATTTTATGACAGTCAAACATGGGAAAACATT c.1620
G T V K M S W S H A F Y D S Q T W E N I p.540
| 09 . . . . . . g.41749
CTTAA | GGATAGGATGGGATCTGCACTGATGATTGAAACAGCAAGAAACCCCACATGTCCT c.1680
L K | D R M G S A L M I E T A R N P T C P p.560
| 10 . . . . . . g.45265
AAG | GTAGCTGCTGTAAGTACCATAGTAAATAGAGGGATAACACCCAAAGCTTTTGTGTTC c.1740
K | V A A V S T I V N R G I T P K A F V F p.580
. . . . . . g.45325
AGAAACTATGGTCATTTTCCTGGAATCAACTCTCATTATTTGGGAGGCTGTCAGTATAAA c.1800
R N Y G H F P G I N S H Y L G G C Q Y K p.600
. . . . . . g.45385
ATGTGGCAGGCCATTAGAGCCTCATCTGCTGCTCCAGGCTACTTTGCAGAATATGCATTG c.1860
M W Q A I R A S S A A P G Y F A E Y A L p.620
. | 11 . . . . g.53824
GGAAATGATCTTCATCAA | GATGGAGGTTTGCTTCTGAATAACCCTTCGGCATTAGCTATG c.1920
G N D L H Q | D G G L L L N N P S A L A M p.640
. . . . . . g.53884
CATGAGTGTAAATGTCTTTGGCCAGATGTGCCGTTAGAGTGCATAGTATCCCTGGGCACT c.1980
H E C K C L W P D V P L E C I V S L G T p.660
. . . . . . g.53944
GGACGTTATGAGAGTGATGTGAGAAACACGGTAACATACACAAGCTTGAAAACTAAACTT c.2040
G R Y E S D V R N T V T Y T S L K T K L p.680
. . . | 12 . . . g.60512
TCTAATGTTATCAACAGTGCTACAGATACAGAAG | AAGTCCATATAATGCTTGATGGCCTG c.2100
S N V I N S A T D T E E | V H I M L D G L p.700
. . . . . . g.60572
TTACCTCCTGACACCTATTTTAGATTCAATCCTGTAATGTGTGAAAACATACCTCTAGAT c.2160
L P P D T Y F R F N P V M C E N I P L D p.720
. . . . . . g.60632
GAAAGTCGAAATGAAAAGCTGGATCAGCTGCAGTTGGAAGGGTTGAAATACATAGAAAGA c.2220
E S R N E K L D Q L Q L E G L K Y I E R p.740
. . . . . . g.60692
AATGAACAAAAAATGAAAAAAGTTGCAAAAATATTAAGTCAAGAAAAAACAACTCTGCAG c.2280
N E Q K M K K V A K I L S Q E K T T L Q p.760
. . . . . . g.60752
AAAATTAATGATTGGATAAAATTAAAAACTGATATGTATGAAGGACTTCCATTCTTTTCA c.2340
K I N D W I K L K T D M Y E G L P F F S p.780
g.60761
AAATTGTGA c.2349
K L X p.782
. . . . . . g.60821
tgagtatatgcttatgttctcataaatgaaggtctgtttagaagatcaaccacattcaat c.*60
. . . . . . g.60881
aaggaattgtggggttcgacatgagttaactttgaaatacgtatgaattctggagaatcc c.*120
. . . . . . g.60941
tgaaaaagacggtgcttcaaccagcttgcatagcacagagaatattcttggttacagaat c.*180
. . . . . . g.61001
tcatatgggaactaggcttttaagatgttaataattagctaagctttagtaacccttact c.*240
. . . . . . g.61061
gtgctagtagattttagtagatattggtgttatattgtttgatgtttgaaaatatattaa c.*300
. . . . . . g.61121
tatatgtgccgaacaagaaaccgaaagctatattgtactgtgtatttttactttagtcct c.*360
. . . . . . g.61181
cataatcatgttgaatttatgtgatcattgattttatttcatatggaaaagctaatttct c.*420
. . . . . . g.61241
tcttaaatttacattacctaatattctcactagctatgttctccaatccacactgccttt c.*480
. . . . . . g.61301
tattgtaatatcatctaaatagatgcagaaaaatggaattttctctattaaagtatttta c.*540
. . . . . . g.61361
catttgacataaaaaagaaccagatacagttttctattcagatatgtttattttaacatt c.*600
. . . . . . g.61421
gtttggttaaaaaaggtgaagttccagtcaaccactttttacccctgaaatttcaagata c.*660
. . . . . . g.61481
atgctatattaacttttccagatctaacactagcttattcttccctgttataaaatggtt c.*720
. . . . . . g.61541
tgaacttactgaggagatattcctatcattaacaaaaataaactatttaaataatctgtt c.*780
. . . . . . g.61601
gttaaaaggctaatgtcattttaaaattaatttttgttcataatgtagctcccctttagc c.*840
. . . . . . g.61661
ctttgaatacacctggcagcagtatgcttaaaaataagaagttagttgcctggcgcagta c.*900
. . . . . . g.61721
gctcacacctgtaatcccagcactttgggaggccgaggcaggcagatcacctgacgtcag c.*960
. . . . . . g.61781
gagtccaagaccagcctggccaacacggtgaaacctcgtctctaataaaaatacaaacat c.*1020
. . . . . . g.61841
tagcccggcatggtggtgcacacctatagtcccagctactcgggaggctaaggcaggaga c.*1080
. . . . . . g.61901
atggcttgaacctgagagacggaggttgcagtgagccaaatagcgccagtgcactccagc c.*1140
. . . . . . g.61961
ctaggcgacacagcgagactccatctcaaaaaaaaaaaaaaaaaaaagaagaagttaggc c.*1200
. . . . . . g.62021
ttgttttaccttattaactcctttgaactgtctggatttcatggaagttggtaagatgca c.*1260
. . . . . . g.62081
cttacatggaacattgttcatgccaaacaaactcatctttattgtatctatttgtcacat c.*1320
. . . . . . g.62141
aaatccttacatggaatgttttgatttcttaagaaaaatgaaacaaaggttagcgcccct c.*1380
. . . . . . g.62201
tgttttagacatacaaactaaagctagaccctgttgcccagatagtcatattgcttcttt c.*1440
. . . . . . g.62261
gcaatatcaattcacagaggctgtgagatgtggttcaaagagtggagtcgagagtctgga c.*1500
. . . . . . g.62321
tgctaatcctgcctttgctgcaagaacccttctgtttgttaccttgaggaaggcaaatgt c.*1560
. . . . . . g.62381
ctgtaggctttgcatatctcatttgtaaaatgaggaaaggtagctgtaaaattttctaac c.*1620
. . . . . . g.62441
atccgaattatataaactttagacatagtataaaataggaaactaccaatgatttctaaa c.*1680
. . . . . . g.62501
gataatatagttctttcagaccacaaataatacataataacatgcaactaagaacaactt c.*1740
. . . . . . g.62561
gtaaatgcaagaaaaaaacaaataattggaaatcagaatatttctgggaattcttcgtaa c.*1800
. . . . . . g.62621
taaagcaaatttcaagcacaataaagtaatatttatgcatatttacatatttgcacctca c.*1860
. . . . . . g.62681
tcataaggtcactctagtcctaaactgatgtagttcatctgttttacagctgaagttaag c.*1920
. . . . . g.62740
tatgtcccttatttgtgcttggcttatttctttcttaaataatacattacacaagtgaa c.*1979
(downstream sequence)
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