(used for variant description)
(last modified July 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001031696.2 in the PLD3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering PLD3 transcript NM_001031696.2.
(upstream sequence)
. . . g.5038
gcatcctctcaccgccggaagctgaactgactcgtccg c.-361
. . . . . . g.5098
cggccgctctaccccaacaggccgccaccagcgagagtgcggccataaccatcacgtgac c.-301
. . . . . . g.5158
cgcccaccgacaccagcgagagtgcagtcgtaaccgtcacgtgaccgcccaccgtcggcc c.-241
. . . . . . g.5218
cggcgctcccctccgcccgaagctagcaagcggcgcggccaatgagaaaggcgcatgcct c.-181
. . . . . . g.5278
ggcccccgccggcctgcagtctagccgtagtgcgcctgcgcgcggctaggaggggccgtc c.-121
. . . | 02 . . . | 03 g.22999
aggcggggatacagcctggaag | gtaatgcatgtccatggtacacaaattcacaag | tttgg c.-61
. . . . . . g.23059
agaccctgacacacccaccttctcacctgggctctgcgtatcccccagccttgagggaag c.-1
. . | 04. . . . g.23218
ATGAAGCCTAAACTGATGTACCAGGAG | CTGAAGGTGCCTGCAGAGGAGCCCGCCAATGAG c.60
M K P K L M Y Q E | L K V P A E E P A N E p.20
. . . . | 05 . . g.23366
CTGCCCATGAATGAGATTGAGGCGTGGAAGGCTGCGGAAAAG | AAAGCCCGCTGGGTCCTG c.120
L P M N E I E A W K A A E K | K A R W V L p.40
. . . . . . g.23426
CTGGTCCTCATTCTGGCGGTTGTGGGCTTCGGAGCCCTGATGACTCAGCTGTTTCTATGG c.180
L V L I L A V V G F G A L M T Q L F L W p.60
. . . . . . g.23486
GAATACGGCGACTTGCATCTCTTTGGGCCCAACCAGCGCCCAGCCCCCTGCTATGACCCT c.240
E Y G D L H L F G P N Q R P A P C Y D P p.80
| 06 . . . . . . g.24326
TGCGA | AGCAGTGCTGGTGGAAAGCATTCCTGAGGGCCTGGACTTCCCCAATGCCTCCACG c.300
C E | A V L V E S I P E G L D F P N A S T p.100
. . . . . . g.24386
GGGAACCCTTCCACCAGCCAGGCCTGGCTGGGCCTGCTCGCCGGTGCGCACAGCAGCCTG c.360
G N P S T S Q A W L G L L A G A H S S L p.120
. . . . . . g.24446
GACATCGCCTCCTTCTACTGGACCCTCACCAACAATGACACCCACACGCAGGAGCCCTCT c.420
D I A S F Y W T L T N N D T H T Q E P S p.140
| 07 . . . . . g.26534
GCCCAGCAG | GGTGAGGAGGTCCTCCGGCAGCTGCAGACCCTGGCACCAAAGGGCGTGAAC c.480
A Q Q | G E E V L R Q L Q T L A P K G V N p.160
. . . . . . g.26594
GTCCGCATCGCTGTGAGCAAGCCCAGCGGGCCCCAGCCACAGGCGGACCTGCAGGCTCTG c.540
V R I A V S K P S G P Q P Q A D L Q A L p.180
. | 08 . . . . . g.26735
CTGCAGAGCG | GTGCCCAGGTCCGCATGGTGGACATGCAGAAGCTGACCCATGGCGTCCTG c.600
L Q S G | A Q V R M V D M Q K L T H G V L p.200
. . . . . . g.26795
CATACCAAGTTCTGGGTGGTGGACCAGACCCACTTCTACCTGGGCAGTGCCAACATGGAC c.660
H T K F W V V D Q T H F Y L G S A N M D p.220
. | 09 . . . . g.28290
TGGCGTTCACTGACCCAG | GTCAAGGAGCTGGGCGTGGTCATGTACAACTGCAGCTGCCTG c.720
W R S L T Q | V K E L G V V M Y N C S C L p.240
. . . . . . g.28350
GCTCGAGACCTGACCAAGATCTTTGAGGCCTACTGGTTCCTGGGCCAGGCAGGCAGCTCC c.780
A R D L T K I F E A Y W F L G Q A G S S p.260
. . . . . . g.28410
ATCCCATCAACTTGGCCCCGGTTCTATGACACCCGCTACAACCAAGAGACACCAATGGAG c.840
I P S T W P R F Y D T R Y N Q E T P M E p.280
. . . | 10 . . g.31077
ATCTGCCTCAATGGAACCCCTGCTCTGGCCTACCTGGCG | AGTGCGCCCCCACCCCTGTGT c.900
I C L N G T P A L A Y L A | S A P P P L C p.300
. . . . . . g.31137
CCAAGTGGCCGCACTCCAGACCTGAAGGCTCTACTCAACGTGGTGGACAATGCCCGGAGT c.960
P S G R T P D L K A L L N V V D N A R S p.320
. . . . . | 11 g.33185
TTCATCTACGTCGCTGTCATGAACTACCTGCCCACTCTGGAGTTCTCCCACCCTCACAG | G c.1020
F I Y V A V M N Y L P T L E F S H P H R | p.340
. . . . . . g.33245
TTCTGGCCTGCCATTGACGATGGGCTGCGGCGGGCCACCTACGAGCGTGGCGTCAAGGTG c.1080
F W P A I D D G L R R A T Y E R G V K V p.360
. . . . . . g.33305
CGCCTGCTCATCAGCTGCTGGGGACACTCGGAGCCATCCATGCGGGCCTTCCTGCTCTCT c.1140
R L L I S C W G H S E P S M R A F L L S p.380
. . . . | 12 . . g.34376
CTGGCTGCCCTGCGTGACAACCATACCCACTCTGACATCCAGGTG | AAACTCTTTGTGGTC c.1200
L A A L R D N H T H S D I Q V | K L F V V p.400
. . . . . . g.34436
CCCGCGGATGAGGCCCAGGCTCGAATCCCATATGCCCGTGTCAACCACAACAAGTACATG c.1260
P A D E A Q A R I P Y A R V N H N K Y M p.420
. . | 13 . . . . g.34596
GTGACTGAACGCGCCACCTACATCG | GAACCTCCAACTGGTCTGGCAACTACTTCACGGAG c.1320
V T E R A T Y I G | T S N W S G N Y F T E p.440
. . . . . . g.34656
ACGGCGGGCACCTCGCTGCTGGTGACGCAGAATGGGAGGGGCGGCCTGCGGAGCCAGCTG c.1380
T A G T S L L V T Q N G R G G L R S Q L p.460
. . . . . . g.34716
GAGGCCATTTTCCTGAGGGACTGGGACTCCCCTTACAGCCATGACCTTGACACCTCAGCT c.1440
E A I F L R D W D S P Y S H D L D T S A p.480
. . . g.34749
GACAGCGTGGGCAACGCCTGCCGCCTGCTCTGA c.1473
D S V G N A C R L L X p.490
. . . . . . g.34809
ggcccgatccagtgggcaggccaaggcctgctgggcccccgcggacccaggtgctctggg c.*60
. . . . . . g.34869
tcacggtccctgtccccgcgcccccgcttctgtctgccccattgtggctcctcaggctct c.*120
. . . . . . g.34929
ctcccctgctctcccacctctacctccacccccaccggcctgacgctgtggccccgggac c.*180
. . . . . . g.34989
ccagcagagctgggggagggatcagcccccaaagaaatgggggtgcatgctgggcctggc c.*240
. . . . . . g.35049
cccctggcccacccccactttccagggcaaaaagggcccagggttataataagtaaataa c.*300
. g.35059
cttgtctgta c.*310
(downstream sequence)
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