(used for variant description)
(last modified May 9, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001165899.1 in the PDE4D gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_027957.1, covering PDE4D transcript NM_001165899.1.
(upstream sequence)
g.5006
agatta c.-241
. . . . . . g.5066
tagcccagcgtacgagaagcacgagtcctatagttggcgtaccctgaggcctgccagttc c.-181
. . . . . . g.5126
ctgccttaatgcatatgtagtcgtaattgagttctgacacggccttggatgtttctgtcc c.-121
. . . . | 02 . . g.307440
taaatagctgacattgcatcttcaagactgt | cattccagttggcttttgagtggatacgt c.-61
. . . . . . g.307500
gcagtgagatcattgacactggaaacactagttcccattttaattacttaaaacaccacg c.-1
. . . . | 03 . . g.504399
ATGAAAAGAAATACCTGTGATTTGCTTTCTCGGAGCAAAAGT | GCCTCTGAGGAAACACTA c.60
M K R N T C D L L S R S K S | A S E E T L p.20
. . . . . . g.504459
CATTCCAGTAATGAAGAGGAAGACCCTTTCCGCGGAATGGAACCCTATCTTGTCCGGAGA c.120
H S S N E E E D P F R G M E P Y L V R R p.40
. . . . . . g.504519
CTTTCATGTCGCAATATTCAGCTTCCCCCTCTCGCCTTCAGACAGTTGGAACAAGCTGAC c.180
L S C R N I Q L P P L A F R Q L E Q A D p.60
. . . . . . g.504579
TTGAAAAGTGAATCAGAGAACATTCAACGACCAACCAGCCTCCCCCTGAAGATTCTGCCG c.240
L K S E S E N I Q R P T S L P L K I L P p.80
. . . | 04 . . . g.1277159
CTGATTGCTATCACTTCTGCAGAATCCAGTGG | TTTTGATGTGGACAATGGCACATCTGCG c.300
L I A I T S A E S S G | F D V D N G T S A p.100
. . . . . . g.1277219
GGACGGAGTCCCTTGGATCCCATGACCAGCCCAGGATCCGGGCTAATTCTCCAAGCAAAT c.360
G R S P L D P M T S P G S G L I L Q A N p.120
. . . . . . g.1277279
TTTGTCCACAGTCAACGACGGGAGTCCTTCCTGTATCGATCCGACAGCGATTATGACCTC c.420
F V H S Q R R E S F L Y R S D S D Y D L p.140
. . . . | 05 . . g.1299579
TCTCCAAAGTCTATGTCCCGGAACTCCTCCATTGCCAGTGATAT | ACACGGAGATGACTTG c.480
S P K S M S R N S S I A S D I | H G D D L p.160
. . | 06 . . . . g.1307876
ATTGTGACTCCATTTGCTCAG | GTCTTGGCCAGTCTGCGAACTGTACGAAACAACTTTGCT c.540
I V T P F A Q | V L A S L R T V R N N F A p.180
. . . | 07 . . . g.1312480
GCATTAACTAATTTGCAAGATCGAGCACCTAGCAA | AAGATCACCCATGTGCAACCAACCA c.600
A L T N L Q D R A P S K | R S P M C N Q P p.200
. . | 08 . . . . g.1454162
TCCATCAACAAAGCCACCATAACAG | AGGAGGCCTACCAGAAACTGGCCAGCGAGACCCTG c.660
S I N K A T I T E | E A Y Q K L A S E T L p.220
. . . . . . g.1454222
GAGGAGCTGGACTGGTGTCTGGACCAGCTAGAGACCCTACAGACCAGGCACTCCGTCAGT c.720
E E L D W C L D Q L E T L Q T R H S V S p.240
. | 09 . . . . g.1499675
GAGATGGCCTCCAACAAG | TTTAAAAGGATGCTTAATCGGGAGCTCACCCATCTCTCTGAA c.780
E M A S N K | F K R M L N R E L T H L S E p.260
. . . . . | 10 . g.1501102
ATGAGTCGGTCTGGAAATCAAGTGTCAGAGTTTATATCAAACACATTCTTAG | ATAAGCAA c.840
M S R S G N Q V S E F I S N T F L D | K Q p.280
. . . . . . g.1501162
CATGAAGTGGAAATTCCTTCTCCAACTCAGAAGGAAAAGGAGAAAAAGAAAAGACCAATG c.900
H E V E I P S P T Q K E K E K K K R P M p.300
. . . . . . g.1501222
TCTCAGATCAGTGGAGTCAAGAAATTGATGCACAGCTCTAGTCTGACTAATTCAAGTATC c.960
S Q I S G V K K L M H S S S L T N S S I p.320
. . . . | 11 . . g.1502211
CCAAGGTTTGGAGTTAAAACTGAACAAGAAGATGTCCTTGCCAAG | GAACTAGAAGATGTG c.1020
P R F G V K T E Q E D V L A K | E L E D V p.340
. . . . . . g.1502271
AACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACT c.1080
N K W G L H V F R I A E L S G N R P L T p.360
. . | 12 . . . . g.1503215
GTTATCATGCACACCATTTTTCAG | GAACGGGATTTATTAAAAACATTTAAAATTCCAGTA c.1140
V I M H T I F Q | E R D L L K T F K I P V p.380
. . . . . . g.1503275
GATACTTTAATTACATATCTTATGACTCTCGAAGACCATTACCATGCTGATGTGGCCTAT c.1200
D T L I T Y L M T L E D H Y H A D V A Y p.400
. . . . . . g.1503335
CACAACAATATCCATGCTGCAGATGTTGTCCAGTCTACTCATGTGCTATTATCTACACCT c.1260
H N N I H A A D V V Q S T H V L L S T P p.420
| 13 . . . . . g.1504557
GCTTTGGAG | GCTGTGTTTACAGATTTGGAGATTCTTGCAGCAATTTTTGCCAGTGCAATA c.1320
A L E | A V F T D L E I L A A I F A S A I p.440
. . . . | 14 . g.1515764
CATGATGTAGATCATCCTGGTGTGTCCAATCAATTTCTGATCAATACAA | ACTCTGAACTT c.1380
H D V D H P G V S N Q F L I N T N | S E L p.460
. . . . . . g.1515824
GCCTTGATGTACAATGATTCCTCAGTCTTAGAGAACCATCATTTGGCTGTGGGCTTTAAA c.1440
A L M Y N D S S V L E N H H L A V G F K p.480
. . . . . . g.1515884
TTGCTTCAGGAAGAAAACTGTGACATTTTCCAGAATTTGACCAAAAAACAAAGACAATCT c.1500
L L Q E E N C D I F Q N L T K K Q R Q S p.500
. . | 15 . . . . g.1516662
TTAAGGAAAATGGTCATTGACATC | GTACTTGCAACAGATATGTCAAAACACATGAATCTA c.1560
L R K M V I D I | V L A T D M S K H M N L p.520
. . . . . . g.1516722
CTGGCTGATTTGAAGACTATGGTTGAAACTAAGAAAGTGACAAGCTCTGGAGTTCTTCTT c.1620
L A D L K T M V E T K K V T S S G V L L p.540
. . | 16. . . . g.1517292
CTTGATAATTATTCCGATAGGATTCAG | GTTCTTCAGAATATGGTGCACTGTGCAGATCTG c.1680
L D N Y S D R I Q | V L Q N M V H C A D L p.560
. . . . . . g.1517352
AGCAACCCAACAAAGCCTCTCCAGCTGTACCGCCAGTGGACGGACCGGATAATGGAGGAG c.1740
S N P T K P L Q L Y R Q W T D R I M E E p.580
. . . . . . g.1517412
TTCTTCCGCCAAGGAGACCGAGAGAGGGAACGTGGCATGGAGATAAGCCCCATGTGTGAC c.1800
F F R Q G D R E R E R G M E I S P M C D p.600
. . . | 17 . . . g.1518048
AAGCACAATGCTTCCGTGGAAAAATCACAG | GTGGGCTTCATAGACTATATTGTTCATCCC c.1860
K H N A S V E K S Q | V G F I D Y I V H P p.620
. . . . . . g.1518108
CTCTGGGAGACATGGGCAGACCTCGTCCACCCTGACGCCCAGGATATTTTGGACACTTTG c.1920
L W E T W A D L V H P D A Q D I L D T L p.640
. . . . . . g.1518168
GAGGACAATCGTGAATGGTACCAGAGCACAATCCCTCAGAGCCCCTCTCCTGCACCTGAT c.1980
E D N R E W Y Q S T I P Q S P S P A P D p.660
. . . . . . g.1518228
GACCCAGAGGAGGGCCGGCAGGGTCAAACTGAGAAATTCCAGTTTGAACTAACTTTAGAG c.2040
D P E E G R Q G Q T E K F Q F E L T L E p.680
. . . . . . g.1518288
GAAGATGGTGAGTCAGACACGGAAAAGGACAGTGGCAGTCAAGTGGAAGAAGACACTAGC c.2100
E D G E S D T E K D S G S Q V E E D T S p.700
. . . . . . g.1518348
TGCAGTGACTCCAAGACTCTTTGTACTCAAGACTCAGAGTCTACTGAAATTCCCCTTGAT c.2160
C S D S K T L C T Q D S E S T E I P L D p.720
. . . . . . g.1518408
GAACAGGTTGAAGAGGAGGCAGTAGGGGAAGAAGAGGAAAGCCAGCCTGAAGCCTGTGTC c.2220
E Q V E E E A V G E E E E S Q P E A C V p.740
. . g.1518435
ATAGATGATCGTTCTCCTGACACGTAA c.2247
I D D R S P D T X p.748
. . . . . . g.1518495
cagtgcaaaaactttcatgccttttttttttttaagtagaaaaattgtttccaaagtgca c.*60
. . . . . . g.1518555
tgtcacatgccacaaccacggtcacacctcactgtcatctgccaggacgtttgttgaaca c.*120
. . . . . . g.1518615
aaactgaccttgactactcagtccagcgctcaggaatatcgtaaccagttttttcacctc c.*180
. . . . . . g.1518675
catgtcatccgagcaaggtggacatcttcacgaacagcgtttttaacaagatttcagctt c.*240
. . . . . . g.1518735
ggtagagctgacaaagcagataaaatctactccaaattattttcaagagagtgtgactca c.*300
. . . . . . g.1518795
tcaggcagcccaaaagtttattggacttggggtttctattcctttttatttgtttgcaat c.*360
. . . . . . g.1518855
attttcagaagaaaggcattgcacagagtgaacttaatggacgaagcaacaaatatgtca c.*420
. . . . . . g.1518915
agaacaggacatagcacgaatctgttaccagtaggaggaggatgagccacagaaattgca c.*480
. . . . . . g.1518975
taattttctaatttcaagtcttcctgatacatgactgaatagtgtggttcagtgagctgc c.*540
. . . . . . g.1519035
actgacctctacattttgtatgatatgtaaaacagattttttgtagagcttacttttatt c.*600
. . . . . . g.1519095
attaaatgtattgaggtattatatttaaaaaaaactatgttcagaacttcatctgccact c.*660
. . . . . . g.1519155
ggttatttttttctaaggagtaacttgcaagttttcagtacaaatctgtgctacactgga c.*720
. . . . . . g.1519215
taaaaatctaatttatgaattttacttgcaccttatagttcatagcaattaactgatttg c.*780
. . . . . . g.1519275
tagtgattcattgtttgttttatataccaatgacttccatattttaaaagagaaaaacaa c.*840
. . . . . . g.1519335
ctttatgttgcaggaaaccctttttgtaagtctttattatttactttgcattttgtttca c.*900
. . . . . . g.1519395
ctctttccagataagcagagttgctcttcaccagtgtttttcttcatgtgcaaagtgact c.*960
. . . . . . g.1519455
atttgttctataatacttttatgtgtgttatatcaaatgtgtcttaagcttcatgcaaac c.*1020
. . . . . . g.1519515
tcagtcatcagttcgtgttgtctgaagcaagtgggagatatataaatacccagtagctaa c.*1080
. . . . . . g.1519575
aatggtcagtcttttttagatgttttcctacttagtatctcctaataacgttttgctgtg c.*1140
. . . . . . g.1519635
tcactagatgttcatttcacaagtgcatgtctttctaataatccacacatttcatgctct c.*1200
. . . . . . g.1519695
aataatccacacatttcatgctcatttttattgtttttacagccagttatagtaagaaaa c.*1260
. . . . . . g.1519755
aggtttttccccttgtgctgctttataatttagcgtgtgtctgaaccttatccatgtttg c.*1320
. . . . . . g.1519815
ctagatgaggtcttgtcaaatatatcactaccattgtcaccggtgaaaagaaacaggtag c.*1380
. . . . . . g.1519875
ttaagttagggttaacattcatttcaaccacgaggttgtatatcatgactagcttttact c.*1440
. . . . . . g.1519935
cttggtttacagagaaaagttaaacagccaactaggcagtttttaagaatattaacaata c.*1500
. . . . . . g.1519995
tattaacaaacaccaatacaactaatcctatttggttttaatgatttcaccatgggatta c.*1560
. . . . . . g.1520055
agaactatatcaggaacatccctgagaaacggttttaagtgtagcaactactcttcctta c.*1620
. . . . . . g.1520115
atggacagccacataacgtgtaggaagtcctttatcacttatcctcgatccataagcata c.*1680
. . . . . . g.1520175
tcttgcagaggggaactacttctttaaacacatggagggaaagaagatgatgccactggc c.*1740
. . . . . . g.1520235
accagagggttagtactgtgatgcatcctaaaatatttattatattggtaaaaattctgg c.*1800
. . . . . . g.1520295
ttaaataaaaaattagagatcactcttggctgatttcagcaccaggaactgtattacagt c.*1860
. . . . . . g.1520355
tttagagattaattcctagtgtttacctgattatagcagttggcatcatggggcatttaa c.*1920
. . . . . . g.1520415
ttctgactttatccccacgtcagccttaataaagtcttctttaccttctctatgaagact c.*1980
. . . . . . g.1520475
ttaaagcccaaataatcatttttcacattgatattcaagaattgagatagatagaagcca c.*2040
. . . . . . g.1520535
aagtgggtatctgacaagtggaaaatcaaacgtttaagaagaattacaactctgaaaagc c.*2100
. . . . . . g.1520595
atttatatgtggaacttctcaaggagcctcctggggactggaaagtaagtcatcagccag c.*2160
. . . . . . g.1520655
gcaaatgactcatgctgaagagagtccccatttcagtcccctgagatctagctgatgctt c.*2220
. . . . . . g.1520715
agatcctttgaaataaaaattatgtctttataactctgatcttttacataaagcagaaga c.*2280
. . . . . . g.1520775
ggaatcaactagttaattgcaaggtttctactctgtttcctctgtaaagatcagatggta c.*2340
. . . . . . g.1520835
atctttcaaataagaaaaaaataaagacgtatgtttgaccaagtagtttcacaagaatat c.*2400
. . . . . . g.1520895
ttgggaacttgtttcttttaattttatttgtccctgagtgaagtctagaaagaaaggtaa c.*2460
. . . . . . g.1520955
agagtctagagtttattcctctttccaaaacattctcattcctctcctccctacacttag c.*2520
. . . . . . g.1521015
tatttcccccacagagtgcctagaatcttaataatgaataaaataaaaagcagcaatatg c.*2580
. . . . . . g.1521075
tcattaacaaatccagacctgaaagggtaaagggtttataactgcactaataaagagagg c.*2640
. . . . . . g.1521135
ctctttttttttcttccagtttgttggtttttaatggtaccgtgttgtaaagatacccac c.*2700
. . . . . . g.1521195
taatggacaatcaaattgcagaaaaggctcaatatccaagagacagggactaatgcactg c.*2760
. . . . . . g.1521255
tacaatctgcttatccttgcccttctctcttgccaaagtgtgcttcagaaatatatactg c.*2820
. . . . . . g.1521315
ctttaaaaaagaataaaagaatatccttttacaagtggctttacatttcctaaaatgcca c.*2880
. . . . . . g.1521375
taagaaaatgcaatatctgggtactgtatggggaaaaaaatgtccaagtttgtgtaaaac c.*2940
. . . . . . g.1521435
cagtgcatttcagcttgcaagttactgaacacaataatgctgttttaattttgttttata c.*3000
. . . . . . g.1521495
tcagttaaaattcacaataatgtagatagaacaaattacagacaaggaaagaaaaaactt c.*3060
. . . . . . g.1521555
gaatgaaatggattttacagaaagctttatgataatttttgaatgcattatttatttttt c.*3120
. . . . . . g.1521615
gtgccatgcattttttttctcaccaaatgaccttacctgtaatacagtcttgtttgtctg c.*3180
. . . . . . g.1521675
tttacaaccatgtatttattgcaatgtacatactgtaatgttaattgtaaattatctgtt c.*3240
. . . . . . g.1521735
cttattaaaacatcatcccatgatgggatggtgttgatatatttggaaactcttggtgag c.*3300
. . . . . . g.1521795
agaatgaatggtgtgtatacatactctgtacatttttcttttctcctgtaatatagtctt c.*3360
. . . . . . g.1521855
gtcaccttagagcttgtttatggaagattcaagaaaactataaaatacttaaagatatat c.*3420
. . . . . . g.1521915
aaatttaaaaaaacatagctgcaggtctttggtcccagggctgtgccttaactttaacca c.*3480
. . . . . . g.1521975
atattttcttctgttttgctgcatttgaaaggtaacagtggagctagggctgggcatttt c.*3540
. . . . . . g.1522035
acatccaggcttttaattgattagaattctgccaataggtggattttacaaaaccacaga c.*3600
. . . . . . g.1522095
caacctctgaaagattctgagacccttttgagacagaagctcttaagtacttcttgccag c.*3660
. . . . . . g.1522155
ggagcagcactgcatgtgtgatggttgtttgccatctgttgatcaggaactacttcagct c.*3720
. . . . . . g.1522215
acttgcatttgattatttcctttttttttttttttaactcggaaacacaactggggaaat c.*3780
. . . . . . g.1522275
atattctttcccagtgattataaacaatctttttcttttttttaagtccttttggcttct c.*3840
. . . . . . g.1522335
agagctcataggaaaatggacttgatttgaaattggagccagagtttactcgtgttggtt c.*3900
. . . . . . g.1522395
atctattcatcagcttcctgacatgttaagagaatacattaaagagaaaatactgttttt c.*3960
. . . . . . g.1522455
taatcctaaaatttttcttccactaagataaaccaaatgtccttacatatatgtaaaccc c.*4020
. . . . . . g.1522515
atctatttaaacgcaaaggtgggttgatgtcagtttacatagcagaaagcattcactatc c.*4080
. . . . . . g.1522575
ctctaagatttgtttctgcaaaactttcattgctttagaattttaaaatttcaccttgta c.*4140
. . . . . . g.1522635
caatggccagcccctaaagcaggaaacatttataatggattatatggaaacatcctccca c.*4200
. . . . . . g.1522695
gtacttgcccagcccttgaatcatgtggcttttcagtgaaaggaaagattctttttctag c.*4260
. . . . . . g.1522755
gaaaaatgagcctattttattttattttattttattttttgacacaaactgtagatttta c.*4320
. . . . . . g.1522815
gcagccctggcccaaaggaatttgattacttttgttttaaacagtacaaaggggacacta c.*4380
. . . . . . g.1522875
taattacaaaaacatccttaactgatttgagttgtttttatttctttggatatattttca c.*4440
. . . . . . g.1522935
gagtggtaaattgtgtgtgagaattacaaatgattattcttttagtggtttcttagcctc c.*4500
. . . . . . g.1522995
tcttacagcccacggggatagtactgtacatcaataccttcatatgaaatttttatatgc c.*4560
. . . . . . g.1523055
aatgaaaataaaagcatgggttgattctgcctatttatgactcaatcttttacaaataaa c.*4620
. . . . . . g.1523115
agattattcattttaaattatagttcaatcagcatgtctcttaggatactgaacgtggtt c.*4680
. . . . . . g.1523175
gaaatgaaaggatagtgacatcataagttagtactgatattcataaccaaataaagccaa c.*4740
. . . . . . g.1523235
cttgagtaattttgctacattaaaaattaccaaaattacttagatggcctataagattaa c.*4800
. . . . . . g.1523295
gcatggtgttttctaagcaagctttgaaaggggccttccatacttacttaattgaatatt c.*4860
. . . . . . g.1523355
ctgggatattgaaaattattcagatacttgacaattatttttggttacctactccgcaaa c.*4920
. . . . . . g.1523415
ctacaaagttttaaggactcaacaataagttaatgagacacagtgtttgctttcatggag c.*4980
. . . . . . g.1523475
cttacagtctggaggggacaaaggcttaaacaatactcatataattatatatgtgatcag c.*5040
. . . . . . g.1523535
tacaatgaaggagctcagtggggtaaataagcaggaacctgaacttgatctgttccggag c.*5100
. . . . . . g.1523595
ggccacagaaggcttccttgaggccttgagaaagtgatttgcatctgagttctgaaggat c.*5160
. . . . . . g.1523655
tgtaagaggtaactagggaaaaagttgacaggaagaggaaggggatccagacaagaaaca c.*5220
. . . . . . g.1523715
tttgcaaagatcttgaggcataaatgagcttgagacatctggagaaactgaggaaaagtg c.*5280
. . . . . . g.1523775
agagagtaggcagggcctggagccgcagagccattgctaaccatcctgtgtgagatatcc c.*5340
. . . . . . g.1523835
cccattctgtagctttattctcataaccctgctcaattttctttataacacttctcacag c.*5400
. . . . . . g.1523895
atttatatacgtgtttgtttttgttatctgtctctcccaccagaccacagctccatgaga c.*5460
. . . . . . g.1523955
gcaaggtctttgcttaccaatatatcactagcacttaaaactatgcctggtacacagtag c.*5520
. . . . . . g.1524015
gttcttaatatgtgttgaatatagccatcaaattgatattggatataattcaatctgata c.*5580
. . . . g.1524061
agatattttgagatattaaagagtttttaacttgataccataaaaa c.*5626
(downstream sequence)
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