(used for variant description)
(last modified January 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_006702.4 in the PNPLA6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013374.1, covering PNPLA6 transcript NM_006702.4.
(upstream sequence)
. . . . g.5043
agtgaataatttaaaggggccgtgcctgcggagccgggcggaa c.-241
. . . . . | 02 . g.5613
cgctagcggtgttggcgcggagtggaccccggctgcggcccctgg | caatggcgccaccat c.-181
. . . . . . g.5673
cggtcccggagtcccagtgatgctctgtgccatagagcccccataacttcactactacgt c.-121
. . . . . . g.5733
gatagtaaatccccggcaaaaaccagcagcgccttgcaagcccacgccaccccaagcatc c.-61
. . | 03. . . . g.6399
ccaggactcttctgaaac | gactccgggctaccagatcggccgtccagctggaatcaaccg c.-1
. . | 04. . . . g.6814
ATGGAGGCTCCGCTGCAAACTGGAATG | GTGCTTGGCGTGATGATCGGGGCCGGAGTGGCG c.60
M E A P L Q T G M | V L G V M I G A G V A p.20
. . . . . | 05 . g.7044
GTGGTGGTCACGGCCGTGCTCATCCTCCTGGTGGTGCGGAGGCTGCGAGTGCCAA | AAACC c.120
V V V T A V L I L L V V R R L R V P K | T p.40
. . . . . . g.7104
CCAGCCCCGGATGGCCCCCGGTATCGGTTCCGGAAGAGGGACAAAGTGCTCTTCTATGGC c.180
P A P D G P R Y R F R K R D K V L F Y G p.60
. | 06 . . . . g.7339
CGGAAGATTATGCGGAAG | GTGTCACAATCCACCTCCTCCCTCGTGGATACCTCTGTCTCC c.240
R K I M R K | V S Q S T S S L V D T S V S p.80
. . . . . | 07 . g.10770
GCCACCTCCCGGCCACGCATGAGGAAGAAACTGAAGATGCTCAACATTGCCAAGAA | GATC c.300
A T S R P R M R K K L K M L N I A K K | I p.100
. . . . . . g.10830
CTGCGCATCCAGAAAGAGACGCCCACGCTGCAGCGGAAGGAGCCCCCGCCCGCAGTGCTA c.360
L R I Q K E T P T L Q R K E P P P A V L p.120
. . . . . . g.10890
GAAGCTGACCTGACCGAGGGCGACCTGGCTAACTCCCATCTGCCCTCTGAAGTGCTTTAT c.420
E A D L T E G D L A N S H L P S E V L Y p.140
. | 08. . . . . g.11040
ATGCTCAAGAACGTCCG | GGTGCTGGGCCACTTCGAGAAGCCACTCTTCCTGGAGCTCTGC c.480
M L K N V R | V L G H F E K P L F L E L C p.160
. . . . . . g.11100
CGCCACATGGTCTTCCAGCGGCTGGGCCAGGGTGACTACGTCTTCCGGCCGGGCCAGCCA c.540
R H M V F Q R L G Q G D Y V F R P G Q P p.180
. . . . . | 09. g.11481
GATGCCAGCATCTACGTGGTGCAGGACGGGCTGCTGGAGCTCTGTCTGCCAGGGCCT | GAC c.600
D A S I Y V V Q D G L L E L C L P G P | D p.200
. . . . . . g.11541
GGGAAGGAGTGTGTGGTGAAGGAAGTGGTTCCTGGGGACAGCGTCAACAGCCTTCTCAGC c.660
G K E C V V K E V V P G D S V N S L L S p.220
. | 10 . . . . g.11813
ATCCTGGATGTCATCACC | GGTCACCAGCATCCCCAGCGGACCGTGTCTGCCCGGGCGGCC c.720
I L D V I T | G H Q H P Q R T V S A R A A p.240
. . . . . . g.11873
CGGGACTCCACGGTGCTGCGCCTGCCGGTGGAAGCATTCTCCGCGGTCTTCACCAAGTAC c.780
R D S T V L R L P V E A F S A V F T K Y p.260
. . | 11. . . . g.12235
CCGGAGAGCTTGGTGCGGGTCGTGCAG | ATCATCATGGTGCGGCTGCAGCGAGTCACCTTC c.840
P E S L V R V V Q | I I M V R L Q R V T F p.280
. . . . | 12 . g.12382
CTGGCACTGCACAACTACCTGGGTCTGACCAATGAGCTCTTCAGCCAC | GAGATCCAGCCC c.900
L A L H N Y L G L T N E L F S H | E I Q P p.300
. . . . . . g.12442
CTGCGTCTGTTCCCCAGCCCCGGCCTCCCAACTCGCACCAGCCCTGTGCGGGGCTCCAAG c.960
L R L F P S P G L P T R T S P V R G S K p.320
. . . . . . g.12502
AGAATGGTCAGCACCTCAGCTACAGACGAGCCCAGGGAGACCCCAGGGCGGCCACCCGAT c.1020
R M V S T S A T D E P R E T P G R P P D p.340
. . . | 13 . . . g.12861
CCCACCGGGGCCCCGCTGCCTGGACCTACAG | GGGACCCTGTGAAGCCCACATCCCTGGAA c.1080
P T G A P L P G P T G | D P V K P T S L E p.360
. . . . . | 14 . g.13414
ACCCCCTCGGCCCCTCTGCTGAGCCGCTGCGTCTCCATGCCAGGGGACATCTCAG | GCTTG c.1140
T P S A P L L S R C V S M P G D I S G | L p.380
. . . . . . g.13474
CAGGGTGGCCCCCGCTCCGACTTCGACATGGCCTATGAGCGTGGCCGGATCTCCGTGTCC c.1200
Q G G P R S D F D M A Y E R G R I S V S p.400
. . . . | 15 . . g.13624
CTGCAGGAAGAGGCCTCCGGGGGGTCCCTGGCAGCCCCCGCTCGG | ACCCCCACTCAGGAG c.1260
L Q E E A S G G S L A A P A R | T P T Q E p.420
. . . . . . g.13684
CCTCGTGAGCAGCCGGCAGGCGCCTGTGAATACAGCTACTGTGAGGATGAGTCGGCCACT c.1320
P R E Q P A G A C E Y S Y C E D E S A T p.440
. . . . . . g.13744
GGTGGCTGCCCTTTCGGGCCCTACCAGGGCCGCCAGACCAGCAGCATCTTCGAGGCAGCA c.1380
G G C P F G P Y Q G R Q T S S I F E A A p.460
. . . | 16 . . . g.13882
AAGCAGGAGCTGGCCAAGCTGATGCGGATTGAG | GACCCCTCCCTCCTGAACAGCAGAGTC c.1440
K Q E L A K L M R I E | D P S L L N S R V p.480
. . . . . | 17 . g.20764
TTGCTGCACCACGCCAAAGCTGGCACCATCATTGCCCGCCAGGGAGACCAG | GACGTGAGC c.1500
L L H H A K A G T I I A R Q G D Q | D V S p.500
. . . . . . g.20824
CTGCACTTCGTGCTCTGGGGCTGCCTGCACGTGTACCAGCGCATGATCGACAAGGCGGAG c.1560
L H F V L W G C L H V Y Q R M I D K A E p.520
. . . . . . g.20884
GACGTGTGCCTGTTCGTAGCGCAGCCCGGGGAACTGGTGGGGCAGCTGGCGGTGCTCACT c.1620
D V C L F V A Q P G E L V G Q L A V L T p.540
. . . . . . g.20944
GGCGAACCTCTCATCTTCACACTGCGAGCCCAACGCGACTGCACCTTCCTGCGGATCTCC c.1680
G E P L I F T L R A Q R D C T F L R I S p.560
. | 18. . . . . g.21189
AAGTCCGACTTCTATGA | GATCATGCGCGCACAGCCCAGTGTGGTGCTGAGTGCGGCGCAC c.1740
K S D F Y E | I M R A Q P S V V L S A A H p.580
. . . . . . g.21249
ACGGTGGCAGCCAGGATGTCGCCCTTCGTGCGCCAGATGGACTTCGCCATCGACTGGACT c.1800
T V A A R M S P F V R Q M D F A I D W T p.600
. . | 19 . . . g.21396
GCAGTGGAGGCGGGACGCGCGCTGTACAG | GCAGGGCGACCGCTCCGACTGCACTTACATC c.1860
A V E A G R A L Y R | Q G D R S D C T Y I p.620
. . . . . . g.21456
GTGCTCAATGGGCGGCTGCGTAGCGTGATCCAGCGAGGCAGTGGCAAGAAGGAGCTGGTG c.1920
V L N G R L R S V I Q R G S G K K E L V p.640
. . . | 20 . . . g.21869
GGCGAGTACGGCCGCGGCGACCTCATCGGCGTG | GTGGAGGCACTGACCCGGCAGCCGCGA c.1980
G E Y G R G D L I G V | V E A L T R Q P R p.660
. . . . . . g.21929
GCCACGACGGTGCACGCGGTGCGCGACACGGAGCTGGCCAAGCTTCCCGAGGGCACCTTG c.2040
A T T V H A V R D T E L A K L P E G T L p.680
. . | 21. . . . g.22243
GGTCACATCAAACGCCGGTACCCGCAG | GTCGTGACCCGCCTTATCCACCTACTGAGCCAG c.2100
G H I K R R Y P Q | V V T R L I H L L S Q p.700
. . . . | 22 . . g.24737
AAAATTCTAGGGAATTTGCAGCAGCTGCAAGGACCCTTCCCAG | CAGGCTCTGGGTTGGGT c.2160
K I L G N L Q Q L Q G P F P A | G S G L G p.720
. . . . . . g.24797
GTGCCCCCACACTCGGAACTCACCAACCCAGCCAGCAACCTGGCAACTGTGGCAATCCTG c.2220
V P P H S E L T N P A S N L A T V A I L p.740
. . . . . . g.24857
CCTGTGTGTGCTGAGGTCCCCATGGTGGCCTTCACGCTGGAGCTGCAGCACGCCCTGCAG c.2280
P V C A E V P M V A F T L E L Q H A L Q p.760
| 23. . . . . . g.25110
GCCATCG | GTCCGACGCTACTCCTTAACAGTGACATCATCCGGGCACGCCTGGGGGCCTCC c.2340
A I G | P T L L L N S D I I R A R L G A S p.780
. | 24 . . . . . g.25452
GCACTGGATAG | CATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCA c.2400
A L D S | I Q E F R L S G W L A Q Q E D A p.800
. . . . . . g.25512
CACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTG c.2460
H R I V L Y Q T D A S L T P W T V R C L p.820
. . . . . . g.25572
CGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAG c.2520
R Q A D C I L I V G L G D Q E P T L G Q p.840
| 25 . . . . . . g.25801
| CTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCAC c.2580
| L E Q M L E N T A V R A L K Q L V L L H p.860
. . . . . . g.25861
CGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGC c.2640
R E E G A G P T R T V E W L N M R S W C p.880
. . . . . . g.25921
TCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAG c.2700
S G H L H L R C P R R L F S R R S P A K p.900
| 26 . . . . . . g.26154
CTG | CATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCC c.2760
L | H E L Y E K V F S R R A D R H S D F S p.920
. . . . . . g.26214
CGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCC c.2820
R L A R V L T G N T I A L V L G G G G A p.940
| 27 . . . . . . g.26513
AG | GGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGAC c.2880
R | G C S H I G V L K A L E E A G V P V D p.960
. . . . . . g.26573
CTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGC c.2940
L V G G T S I G S F I G A L Y A E E R S p.980
. . . | 28 . . g.27322
GCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAG | AGCATGACTTCGGTGCTGGAA c.3000
A S R T K Q R A R E W A K | S M T S V L E p.1000
. . . . . . g.27382
CCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGC c.3060
P V L D L T Y P V T S M F T G S A F N R p.1020
. . . | 29 . . . g.27527
AGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAG | GACCTGTGGCTGCCTTACTTCAAC c.3120
S I H R V F Q D K Q I E | D L W L P Y F N p.1040
. . . . | 30 . . g.28030
GTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATG | GCTCCCTGTGGCGG c.3180
V T T D I T A S A M R V H K D G | S L W R p.1060
. . . . . . g.28090
TACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGAC c.3240
Y V R A S M T L S G Y L P P L C D P K D p.1080
. . . . | 31 . . g.29715
GGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAG | CGGACATCGCCCGCAGC c.3300
G H L L M D G G Y I N N L P A | D I A R S p.1100
. . . . . . g.29775
ATGGGTGCCAAAACGGTCATCGCCATTGACGTGGGGAGCCAGGATGAGACGGACCTCAGC c.3360
M G A K T V I A I D V G S Q D E T D L S p.1120
. . . . . . g.29835
ACCTACGGGGACAGCCTGTCCGGCTGGTGGCTGCTGTGGAAGCGGCTGAATCCCTGGGCT c.3420
T Y G D S L S G W W L L W K R L N P W A p.1140
. . . . . . g.29895
GACAAGGTAAAGGTTCCAGACATGGCTGAAATCCAGTCCCGCCTGGCCTACGTGTCCTGT c.3480
D K V K V P D M A E I Q S R L A Y V S C p.1160
. . . . . . g.29955
GTGCGGCAGCTAGAGGTTGTCAAGTCCAGCTCCTACTGCGAGTACCTGCGCCCGCCCATC c.3540
V R Q L E V V K S S S Y C E Y L R P P I p.1180
. . . . | 32 . . g.31511
GACTGCTTCAAGACCATGGACTTTGGGAAGTTCGACCAGATCTAT | GATGTGGGCTACCAG c.3600
D C F K T M D F G K F D Q I Y | D V G Y Q p.1200
. . . . . . g.31571
TACGGGAAGGCGGTGTTTGGAGGCTGGAGCCGTGGCAACGTCATTGAGAAAATGCTCACA c.3660
Y G K A V F G G W S R G N V I E K M L T p.1220
. . . . | 33 . . g.31880
GACCGGCGGTCTACAGACCTTAATGAGAGCCGCCGTGCAGAC | GTGCTTGCCTTCCCAAGC c.3720
D R R S T D L N E S R R A D | V L A F P S p.1240
. . . . . . g.31940
TCTGGCTTCACTGACTTGGCAGAGATTGTGTCCCGGATTGAGCCCCCCACGAGCTATGTC c.3780
S G F T D L A E I V S R I E P P T S Y V p.1260
. | 34 . . . . g.32097
TCTGATGGCTGTGCTGACG | GAGAGGAGTCAGATTGTCTGACAGAGTATGAGGAGGACGCC c.3840
S D G C A D G | E E S D C L T E Y E E D A p.1280
. . . . . . g.32157
GGACCCGACTGCTCGAGGGATGAAGGGGGGTCCCCCGAGGGCGCAAGCCCCAGCACTGCC c.3900
G P D C S R D E G G S P E G A S P S T A p.1300
| 35 . . . . . g.32387
TCCGAGATG | GAGGAGGAGAAGTCGATTCTCCGGCAACGACGCTGTCTGCCCCAGGAGCCG c.3960
S E M | E E E K S I L R Q R R C L P Q E P p.1320
. . g.32411
CCCGGCTCAGCCACAGATGCCTGA c.3984
P G S A T D A X p.1327
. . . . . . g.32471
ggacctcgacaggggtcaccccctccctcccacccctggactgggctgggggtggccccg c.*60
. . . . . . g.32531
tgggggtagctcactccccctcctgctgctatgcctgtgacccccgcggcccacacactg c.*120
. . . . . . g.32591
gactgacctgccctgagcggggatgcagtgttgcactgatgacttgaccagcccctcccc c.*180
. . g.32616
caataaactcgcctcttggaaatgg c.*205
(downstream sequence)
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