(used for variant description)
(last modified June 28, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_003560.2 in the PLA2G6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007094.2, covering PLA2G6 transcript NM_003560.2.
(upstream sequence)
. g.28952
gggggtccgttcccca c.-121
. . . . . . g.29012
acttcctcggcgctccggactcccaagtctccgccggaccctcctttggatattcctcgt c.-61
. . | 02 . . . . g.41264
gtctccgattctgag | acagagggggaagacggtggggcctccccacctgccccgcagaag c.-1
. . . . . . g.41324
ATGCAGTTCTTTGGCCGCCTGGTCAATACCTTCAGTGGCGTCACCAACTTGTTCTCTAAC c.60
M Q F F G R L V N T F S G V T N L F S N p.20
. . . . . . g.41384
CCATTCCGGGTGAAGGAGGTGGCTGTGGCCGACTACACCTCGAGTGACCGAGTTCGGGAG c.120
P F R V K E V A V A D Y T S S D R V R E p.40
. . . . . . g.41444
GAAGGGCAGCTGATTCTGTTCCAGAACACTCCCAACCGCACCTGGGACTGCGTCCTGGTC c.180
E G Q L I L F Q N T P N R T W D C V L V p.60
. . | 03 . . . g.65068
AACCCCAGGAACTCACAGAGTGGATTCCG | ACTCTTCCAGCTGGAGTTGGAGGCTGACGCC c.240
N P R N S Q S G F R | L F Q L E L E A D A p.80
. . . . . . g.65128
CTAGTGAATTTCCATCAGTATTCTTCCCAGCTGCTACCCTTCTATGAGAGCTCCCCTCAG c.300
L V N F H Q Y S S Q L L P F Y E S S P Q p.100
. . . . . . g.65188
GTCCTGCACACTGAGGTCCTGCAGCACCTGACCGACCTCATCCGTAACCACCCCAGCTGG c.360
V L H T E V L Q H L T D L I R N H P S W p.120
. . . . . . g.65248
TCAGTGGCCCACCTGGCTGTGGAGCTAGGGATCCGCGAGTGCTTCCATCACAGCCGTATC c.420
S V A H L A V E L G I R E C F H H S R I p.140
| 04 . . . . . . g.67457
ATCAG | CTGTGCCAATTGCGCGGAGAACGAGGAGGGCTGCACACCCCTGCACCTGGCCTGC c.480
I S | C A N C A E N E E G C T P L H L A C p.160
. . . . . . g.67517
CGCAAGGGTGATGGGGAGATCCTGGTGGAGCTGGTGCAGTACTGCCACACTCAGATGGAT c.540
R K G D G E I L V E L V Q Y C H T Q M D p.180
. . . . . . g.67577
GTCACCGACTACAAGGGAGAGACCGTCTTCCATTATGCTGTCCAGGGTGACAATTCTCAG c.600
V T D Y K G E T V F H Y A V Q G D N S Q p.200
| 05 . . . . . g.70572
GTGCTGCAG | CTCCTTGGAAGGAACGCAGTGGCTGGCCTGAACCAGGTGAATAACCAAGGG c.660
V L Q | L L G R N A V A G L N Q V N N Q G p.220
. . . . . . g.70632
CTGACCCCGCTGCACCTGGCCTGCCAGCTGGGGAAGCAGGAGATGGTCCGCGTGCTGCTG c.720
L T P L H L A C Q L G K Q E M V R V L L p.240
. . . . . . g.70692
CTGTGCAATGCTCGGTGCAACATCATGGGCCCCAACGGCTACCCCATCCACTCGGCCATG c.780
L C N A R C N I M G P N G Y P I H S A M p.260
. | 06. . . . . g.75649
AAGTTCTCTCAGAAGGG | GTGTGCGGAGATGATCATCAGCATGGACAGCAGCCAGATCCAC c.840
K F S Q K G | C A E M I I S M D S S Q I H p.280
. . . . . | 07 . g.77683
AGCAAAGACCCCCGTTACGGAGCCAGCCCCCTCCACTGGGCCAAGAACGCAGAG | ATGGCC c.900
S K D P R Y G A S P L H W A K N A E | M A p.300
. . . . . . g.77743
CGCATGCTGCTGAAACGGGGCTGCAACGTGAACAGCACCAGCTCCGCGGGGAACACGGCC c.960
R M L L K R G C N V N S T S S A G N T A p.320
. . . . . . g.77803
CTGCACGTGGCGGTGATGCGCAACCGCTTCGACTGTGCCATAGTGCTGCTGACCCACGGG c.1020
L H V A V M R N R F D C A I V L L T H G p.340
. . . . . | 08. g.81131
GCCAACGCGGATGCCCGCGGAGAGCACGGCAACACCCCGCTGCACCTGGCCATGTCG | AAA c.1080
A N A D A R G E H G N T P L H L A M S | K p.360
. . . . . . g.81191
GACAACGTGGAGATGATCAAGGCCCTCATCGTGTTCGGAGCAGAAGTGGACACCCCGAAT c.1140
D N V E M I K A L I V F G A E V D T P N p.380
. . . . | 09 . . g.82274
GACTTTGGGGAGACTCCTACATTCCTAGCCTCCAAAATCGGCAGAC | TTGTCACCAGGAAG c.1200
D F G E T P T F L A S K I G R L | V T R K p.400
. . . . . . g.82334
GCGATCTTGACTCTGCTGAGAACCGTGGGGGCCGAATACTGCTTCCCACCCATCCACGGG c.1260
A I L T L L R T V G A E Y C F P P I H G p.420
. . . . . . g.82394
GTCCCCGCGGAGCAGGGCTCTGCAGCGCCACATCATCCCTTCTCCCTGGAAAGAGCTCAG c.1320
V P A E Q G S A A P H H P F S L E R A Q p.440
. . | 10 . . . g.84273
CCCCCACCGATCAGCCTAAACAACCTAG | AACTACAGGATCTCATGCACATCTCACGGGCC c.1380
P P P I S L N N L E | L Q D L M H I S R A p.460
. . . . | 11. . g.87445
CGGAAGCCAGCGTTCATCCTGGGCTCCATGAGGGACGAGAAGCGGAC | CCACGACCACCTG c.1440
R K P A F I L G S M R D E K R T | H D H L p.480
. . . . . . g.87505
CTGTGCCTGGATGGAGGAGGAGTGAAAGGCCTCATCATCATCCAGCTCCTCATCGCCATC c.1500
L C L D G G G V K G L I I I Q L L I A I p.500
. . . . . . g.87565
GAGAAGGCCTCGGGTGTGGCCACCAAGGACCTGTTTGACTGGGTGGCGGGCACCAGCACT c.1560
E K A S G V A T K D L F D W V A G T S T p.520
. . . | 12 . . . g.89810
GGAGGCATCCTGGCCCTGGCCATTCTGCACA | GTAAGTCCATGGCCTACATGCGCGGCATG c.1620
G G I L A L A I L H S | K S M A Y M R G M p.540
. . . . . . g.89870
TACTTTCGCATGAAGGATGAGGTGTTCCGGGGCTCCAGGCCCTACGAGTCGGGGCCCCTG c.1680
Y F R M K D E V F R G S R P Y E S G P L p.560
. . . . . . g.89930
GAGGAGTTCCTGAAGCGGGAGTTTGGGGAGCACACCAAGATGACGGACGTCAGGAAACCC c.1740
E E F L K R E F G E H T K M T D V R K P p.580
| 13 . . . . . . g.94537
AA | GGTGATGCTGACAGGGACACTGTCTGACCGGCAGCCGGCTGAACTCCACCTCTTCCGG c.1800
K | V M L T G T L S D R Q P A E L H L F R p.600
. . . . . . g.94597
AACTACGATGCTCCAGAAACTGTCCGGGAGCCTCGTTTCAACCAGAACGTTAACCTCAGG c.1860
N Y D A P E T V R E P R F N Q N V N L R p.620
. | 14 . . . . g.95050
CCTCCAGCTCAGCCCTCAG | ACCAGCTGGTGTGGCGGGCGGCCCGAAGCAGCGGGGCAGCT c.1920
P P A Q P S D | Q L V W R A A R S S G A A p.640
. . . . . . g.95110
CCTACTTACTTCCGACCCAATGGGCGCTTCCTGGACGGTGGGCTGCTGGCCAACAACCCC c.1980
P T Y F R P N G R F L D G G L L A N N P p.660
. . . . . | 15 . g.97042
ACGCTGGATGCCATGACCGAGATCCATGAGTACAATCAGGACCTGATCCGCAAG | GGTCAG c.2040
T L D A M T E I H E Y N Q D L I R K | G Q p.680
. . . . . . g.97102
GCCAACAAGGTGAAGAAACTCTCCATCGTTGTCTCCCTGGGGACAGGGAGGTCCCCACAA c.2100
A N K V K K L S I V V S L G T G R S P Q p.700
. . . . . . g.97162
GTGCCTGTGACCTGTGTGGATGTCTTCCGTCCCAGCAACCCCTGGGAGCTGGCCAAGACT c.2160
V P V T C V D V F R P S N P W E L A K T p.720
. . . . | 16 . . g.98131
GTTTTTGGGGCCAAGGAACTGGGCAAGATGGTGGTGGACTGT | TGCACGGATCCAGACGGG c.2220
V F G A K E L G K M V V D C | C T D P D G p.740
. . . . . | 17 . g.98389
CGGGCTGTGGACCGGGCACGGGCCTGGTGCGAGATGGTCGGCATCCAGTACTTCAG | ATTG c.2280
R A V D R A R A W C E M V G I Q Y F R | L p.760
. . . . . . g.98449
AACCCCCAGCTGGGGACGGACATCATGCTGGATGAGGTCAGTGACACAGTGCTGGTCAAC c.2340
N P Q L G T D I M L D E V S D T V L V N p.780
. . . . . . g.98509
GCCCTCTGGGAGACCGAGGTCTACATCTATGAGCACCGCGAGGAGTTCCAGAAGCTCATC c.2400
A L W E T E V Y I Y E H R E E F Q K L I p.800
. . g.98530
CAGCTGCTGCTCTCACCCTGA c.2421
Q L L L S P X p.806
. . . . . . g.98590
gggtccccagcctctcaccggccccagctgacctcgtccattcagcccctgccaggccaa c.*60
. . . . . . g.98650
gcccagccactgccctcccgggcagatctgggcccaggcacctctgagtccatagaccag c.*120
. . . . . . g.98710
gcctgggagaatgccaagctgcctgcccgaggctggtcctgaaggcctgtctcccactaa c.*180
. . . . . . g.98770
ccccgccttccagcactttctgtcattccaggctgggaaagtctagagccccctttggcc c.*240
. . . . . . g.98830
cctttccctgactgtcaaggacaactgactcccccatcagctcaaacattaagggtaccc c.*300
. . . . . . g.98890
gggcacaaccgtacccctgcccccagccccagcctccctgagggcctgccgggctgcctc c.*360
. . . . . . g.98950
tgccccagcccccagcaagggcactcccaggcttcctggtgggtgcagcccactccctct c.*420
. . . . . . g.99010
gccctctgctccgttccctgggggctgggactaaagaaatgggtgtcccccaccccatca c.*480
. . . . . . g.99070
gctgggaaagcccaggccgcaggagtgggatgcccgttggactttgcccctcacactggc c.*540
. . . . . . g.99130
ccagcccctcacactgccccaccccgagaaccctcagctctcaaaggtcactcctgggag c.*600
. . . . . . g.99190
tttcttcttcccaatggaagtggcttaagagccaaaactgaaataaatcatttggattca c.*660
g.99196
agttca c.*666
(downstream sequence)
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