(used for variant description)
(last modified December 14, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_020376.3 in the PNPLA2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023394.1, covering PNPLA2 transcript NM_020376.3.
(upstream sequence)
. . g.5023
ggcggccccagtcagacgcaggc c.-181
. . . . | 02 . . g.5698
agccccaaagcctgaacaggcagggccagacccag | cttcttcgcctccgccagcggggac c.-121
. . . . . . g.5758
cccgagctagagccgcagcgggacctgcccggcccccggctccagcgagcgagcggcgag c.-61
. . . . . . g.5818
caggcggctcacagaggcctggccgcccacggaacccggggcccggcggccgccgccgcg c.-1
. . . . . . g.5878
ATGTTTCCCCGCGAGAAGACGTGGAACATCTCGTTCGCGGGCTGCGGCTTCCTCGGCGTC c.60
M F P R E K T W N I S F A G C G F L G V p.20
. . . . . . g.5938
TACTACGTCGGCGTGGCCTCCTGCCTCCGCGAGCACGCGCCCTTCCTGGTGGCCAACGCC c.120
Y Y V G V A S C L R E H A P F L V A N A p.40
. . . . . . g.5998
ACGCACATCTACGGCGCCTCGGCCGGGGCGCTCACGGCCACGGCGCTGGTCACCGGGGTC c.180
T H I Y G A S A G A L T A T A L V T G V p.60
| 03. . . . . . g.7780
TGCCTGG | GTGAGGCTGGTGCCAAGTTCATTGAGGTATCTAAAGAGGCCCGGAAGCGGTTC c.240
C L G | E A G A K F I E V S K E A R K R F p.80
. . . . . . g.7840
CTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTTTCCTGCTGAAG c.300
L G P L H P S F N L V K I I R S F L L K p.100
. . . . . . g.7900
GTCCTGCCTGCTGATAGCCATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGC c.360
V L P A D S H E H A S G R L G I S L T R p.120
. . . . . . g.7960
GTGTCAGACGGCGAGAATGTCATTATATCCCACTTCAACTCCAAGGACGAGCTCATCCAG c.420
V S D G E N V I I S H F N S K D E L I Q p.140
| 04 . . . . . . g.8117
| GCCAATGTCTGCAGCGGTTTCATCCCCGTGTACTGTGGGCTCATCCCTCCCTCCCTCCAG c.480
| A N V C S G F I P V Y C G L I P P S L Q p.160
| 05 . . . . . . g.8550
GGGGTG | CGCTACGTGGATGGTGGCATTTCAGACAACCTGCCACTCTATGAGCTTAAGAAC c.540
G V | R Y V D G G I S D N L P L Y E L K N p.180
. . . . . . g.8610
ACCATCACAGTGTCCCCCTTCTCGGGCGAGAGTGACATCTGTCCGCAGGACAGCTCCACC c.600
T I T V S P F S G E S D I C P Q D S S T p.200
. . . . . . g.8670
AACATCCACGAGCTGCGGGTCACCAACACCAGCATCCAGTTCAACCTGCGCAACCTCTAC c.660
N I H E L R V T N T S I Q F N L R N L Y p.220
. . . | 06 . . . g.9650
CGCCTCTCCAAGGCCCTCTTCCCGCCGGAGCCCCTG | GTGCTGCGAGAGATGTGCAAGCAG c.720
R L S K A L F P P E P L | V L R E M C K Q p.240
. . . | 07. . . g.9816
GGATACCGGGATGGCCTGCGCTTTCTGCAGCGGAACG | GCCTCCTGAACCGGCCCAACCCC c.780
G Y R D G L R F L Q R N G | L L N R P N P p.260
. . . . . . g.9876
TTGCTGGCGTTGCCCCCCGCCCGCCCCCACGGCCCAGAGGACAAGGACCAGGCAGTGGAG c.840
L L A L P P A R P H G P E D K D Q A V E p.280
. . . . . . g.9936
AGCGCCCAAGCGGAGGATTACTCGCAGCTGCCCGGAGAAGATCACATCCTGGAGCACCTG c.900
S A Q A E D Y S Q L P G E D H I L E H L p.300
. | 08 . . . . g.10138
CCCGCCCGGCTCAATGAGG | CCCTGCTGGAGGCCTGCGTGGAGCCCACGGACCTGCTGACC c.960
P A R L N E A | L L E A C V E P T D L L T p.320
. . . . . . g.10198
ACCCTCTCCAACATGCTGCCTGTGCGTCTGGCCACGGCCATGATGGTGCCCTACACGCTG c.1020
T L S N M L P V R L A T A M M V P Y T L p.340
. . . | 09 . . . g.10441
CCGCTGGAGAGCGCTCTGTCCTTCACCATCCG | CTTGCTGGAGTGGCTGCCCGACGTTCCC c.1080
P L E S A L S F T I R | L L E W L P D V P p.360
. . . . . . g.10501
GAGGACATCCGGTGGATGAAGGAGCAGACGGGCAGCATCTGCCAGTACCTGGTGATGCGC c.1140
E D I R W M K E Q T G S I C Q Y L V M R p.380
. . . | 10 . . . g.10647
GCCAAGAGGAAGCTGGGCAGGCACCTGCCCTCCAG | GCTGCCGGAGCAGGTGGAGCTGCGC c.1200
A K R K L G R H L P S R | L P E Q V E L R p.400
. . . . . . g.10707
CGCGTCCAGTCGCTGCCGTCCGTGCCGCTGTCCTGCGCCGCCTACAGAGAGGCACTGCCC c.1260
R V Q S L P S V P L S C A A Y R E A L P p.420
. . . . . . g.10767
GGCTGGATGCGCAACAACCTCTCGCTGGGGGACGCGCTGGCCAAGTGGGAGGAGTGCCAG c.1320
G W M R N N L S L G D A L A K W E E C Q p.440
. . . . . . g.10827
CGCCAGCTGCTGCTCGGCCTCTTCTGCACCAACGTGGCCTTCCCGCCCGAAGCTCTGCGC c.1380
R Q L L L G L F C T N V A F P P E A L R p.460
. . . . . . g.10887
ATGCGCGCACCCGCCGACCCGGCTCCCGCCCCCGCGGACCCAGCATCCCCGCAGCACCAG c.1440
M R A P A D P A P A P A D P A S P Q H Q p.480
. . . . . . g.10947
CTGGCCGGGCCTGCCCCCTTGCTGAGCACCCCTGCTCCCGAGGCCCGGCCCGTGATCGGG c.1500
L A G P A P L L S T P A P E A R P V I G p.500
. g.10962
GCCCTGGGGCTGTGA c.1515
A L G L X p.504
. . . . . . g.11022
gaccccgaccctctcgaggaaccctgcctgagacgcctccattaccactgcgcagtgaga c.*60
. . . . . . g.11082
tgaggggactcacagttgccaagaggggtctttgccgtgggccccctcgccagccactca c.*120
. . . . . . g.11142
ccagctgcatgcactgagaggggaggtttccacacccctcccctgggccgctgaggcccc c.*180
. . . . . . g.11202
gcgcacctgtgccttaatcttccctcccctgtgctgcccgagcacctcccccgccccttt c.*240
. . . . . . g.11262
actcctgagaactttgcagctgcccttccctccccgtttttcatggcctgctgaaatatg c.*300
. . . . . . g.11322
tgtgtgaagaattatttattttcgccaaagcacatgtaataaatgctgcagcccagcctc c.*360
. . . . . . g.11382
tgcccactttgtgtgtatgtgaccgcctgcttacttgcagtgagagcctggtggccaggg c.*420
. . . . . . g.11442
tctggccctaccttggctgaccagcctctccacagctgcaggccaggtctcccagcgtcg c.*480
. . . . . . g.11502
cactcctgggcctggcatttggaacctgccaggctggcctgggaacacccccctacaggc c.*540
. . . . . . g.11562
acatatgaacgtactgcattcctgccgacccccctgtctaggatgcatccacaccccccc c.*600
. . . . . . g.11622
caattttgcccagcagcctcctggctgacccttggccacagccttctgagggccaatgga c.*660
. . . . . g.11673
aatatttgggaccaagattcttggtaaataaaaacgaaaatgtttgcaaaa c.*711
(downstream sequence)
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