(used for variant description)
(last modified May 9, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000921.4 in the PDE3A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_030033.1, covering PDE3A transcript NM_000921.4.
(upstream sequence)
. . . . g.5040
gggggccactgggaattcagtgaagagggcaccctatacc c.-1
. . . . . . g.5100
ATGGCAGTGCCCGGCGACGCTGCACGAGTCAGGGACAAGCCCGTCCACAGTGGGGTGAGT c.60
M A V P G D A A R V R D K P V H S G V S p.20
. . . . . . g.5160
CAAGCCCCCACGGCGGGCCGGGACTGCCACCATCGTGCGGACCCCGCATCGCCGCGGGAC c.120
Q A P T A G R D C H H R A D P A S P R D p.40
. . . . . . g.5220
TCGGGCTGCCGTGGCTGCTGGGGAGACCTGGTGCTGCAGCCGCTCCGGAGCTCTCGGAAA c.180
S G C R G C W G D L V L Q P L R S S R K p.60
. . . . . . g.5280
CTTTCCTCCGCGCTGTGCGCGGGCTCCCTGTCCTTTCTGCTGGCGCTGCTGGTGAGGCTG c.240
L S S A L C A G S L S F L L A L L V R L p.80
. . . . . . g.5340
GTCCGCGGGGAGGTCGGCTGTGACCTGGAGCAGTGTAAGGAGGCGGCGGCGGCGGAGGAG c.300
V R G E V G C D L E Q C K E A A A A E E p.100
. . . . . . g.5400
GAGGAAGCAGCCCCGGGAGCAGAAGGGGGCGTCTTCCCGGGGCCTCGGGGAGGTGCTCCC c.360
E E A A P G A E G G V F P G P R G G A P p.120
. . . . . . g.5460
GGGGGCGGTGCGCGGCTCAGCCCCTGGCTGCAGCCCTCGGCGCTGCTCTTCAGTCTCCTG c.420
G G G A R L S P W L Q P S A L L F S L L p.140
. . . . . . g.5520
TGTGCCTTCTTCTGGATGGGCTTGTACCTCCTGCGCGCCGGGGTGCGCCTGCCTCTGGCT c.480
C A F F W M G L Y L L R A G V R L P L A p.160
. . . . . . g.5580
GTCGCGCTGCTGGCCGCCTGCTGCGGGGGGGAAGCGCTCGTCCAGATTGGGCTGGGCGTC c.540
V A L L A A C C G G E A L V Q I G L G V p.180
. . . . . . g.5640
GGGGAGGATCACTTACTCTCACTCCCCGCCGCGGGGGTGGTGCTCAGCTGCTTGGCCGCC c.600
G E D H L L S L P A A G V V L S C L A A p.200
. . . . . . g.5700
GCGACATGGCTGGTGCTGAGGCTGAGGCTGGGCGTCCTCATGATCGCCTTGACTAGCGCG c.660
A T W L V L R L R L G V L M I A L T S A p.220
. . . . . . g.5760
GTCAGGACCGTGTCCCTCATTTCCTTAGAGAGGTTCAAGGTCGCCTGGAGACCTTACCTG c.720
V R T V S L I S L E R F K V A W R P Y L p.240
. . . . . . g.5820
GCGTACCTGGCCGGCGTGCTGGGGATCCTCTTGGCCAGGTACGTGGAACAAATCTTGCCG c.780
A Y L A G V L G I L L A R Y V E Q I L P p.260
. . . . . . g.5880
CAGTCCGCGGAGGCGGCTCCAAGGGAGCATTTGGGGTCCCAGCTGATTGCTGGGACCAAG c.840
Q S A E A A P R E H L G S Q L I A G T K p.280
. . . . . . g.5940
GAAGATATCCCGGTGTTTAAGAGGAGGAGGCGGTCCAGCTCCGTCGTGTCCGCCGAGATG c.900
E D I P V F K R R R R S S S V V S A E M p.300
. . . . . . g.6000
TCCGGCTGCAGCAGCAAGTCCCATCGGAGGACCTCCCTGCCCTGTATACCGAGGGAACAG c.960
S G C S S K S H R R T S L P C I P R E Q p.320
| 02 . . . . . | 03 . g.249207
| CTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAG | TCTTCAGGA c.1020
| L M G H S E W D H K R G P R G S Q | S S G p.340
. . . . . . g.249267
ACCAGTATTACTGTGGACATCGCCGTCATGGGCGAGGCCCACGGCCTCATTACCGACCTC c.1080
T S I T V D I A V M G E A H G L I T D L p.360
. . . . . . g.249327
CTGGCAGACCCTTCTCTTCCACCAAACGTGTGCACATCCTTGAGAGCCGTGAGCAACTTG c.1140
L A D P S L P P N V C T S L R A V S N L p.380
. . . . . . g.249387
CTCAGCACACAGCTCACCTTCCAGGCCATTCACAAGCCCAGAGTGAATCCCGTCACTTCG c.1200
L S T Q L T F Q A I H K P R V N P V T S p.400
. . . . . . g.249447
CTCAGTGAAAACTATACCTGTTCTGACTCTGAAGAGAGCTCTGAAAAAGACAAGCTTGCT c.1260
L S E N Y T C S D S E E S S E K D K L A p.420
| 04 . . . . . g.252036
ATTCCAAAG | CGCCTGAGAAGGAGTTTGCCTCCTGGCTTGTTGAGACGAGTTTCTTCCACT c.1320
I P K | R L R R S L P P G L L R R V S S T p.440
. . . . . . g.252096
TGGACCACCACCACCTCGGCCACAGGTCTACCCACCTTGGAGCCTGCACCAGTACGGAGA c.1380
W T T T T S A T G L P T L E P A P V R R p.460
. . . . | 05 . . g.257067
GACCGCAGCACCAGCATCAAACTGCAGGAAGCACCTTCATCCAG | TCCTGATTCTTGGAAT c.1440
D R S T S I K L Q E A P S S S | P D S W N p.480
. . . . . . g.257127
AATCCAGTGATGATGACCCTCACCAAAAGCAGATCCTTTACTTCATCCTATGCTATTTCT c.1500
N P V M M T L T K S R S F T S S Y A I S p.500
. . . . | 06 . . g.265683
GCAGCTAACCATGTAAAGGCTAAAAAGCAAAGTCGACCAG | GTGCCCTCGCTAAAATTTCA c.1560
A A N H V K A K K Q S R P G | A L A K I S p.520
. . . . . . g.265743
CCTCTTTCATCGCCCTGCTCCTCACCTCTCCAAGGGACTCCTGCCAGCAGCCTGGTCAGC c.1620
P L S S P C S S P L Q G T P A S S L V S p.540
. . . . . . g.265803
AAAATTTCTGCAGTGCAGTTTCCAGAATCTGCTGACACAACTGCCAAACAAAGCCTAGGT c.1680
K I S A V Q F P E S A D T T A K Q S L G p.560
. . . . . . g.265863
TCTCACAGGGCCTTAACTTACACTCAGAGTGCCCCAGACCTATCCCCTCAAATCCTGACT c.1740
S H R A L T Y T Q S A P D L S P Q I L T p.580
. . | 07 . . . . g.269488
CCACCTGTTATATGTAGCAG | CTGTGGCAGACCATATTCCCAAGGGAATCCTGCTGATGAG c.1800
P P V I C S S | C G R P Y S Q G N P A D E p.600
. . . . | 08 . . g.270671
CCCCTGGAGAGAAGTGGGGTAGCCACTCGGACACCAAGTAGAACAG | ATGACACTGCTCAA c.1860
P L E R S G V A T R T P S R T D | D T A Q p.620
. . . . . . g.270731
GTTACCTCTGATTATGAAACCAATAACAACAGTGACAGCAGTGACATTGTACAGAATGAA c.1920
V T S D Y E T N N N S D S S D I V Q N E p.640
. . . . . . g.270791
GATGAAACAGAGTGCCTGAGAGAGCCTCTGAGGAAAGCATCGGCTTGCAGCACCTATGCT c.1980
D E T E C L R E P L R K A S A C S T Y A p.660
. . | 09 . . . . g.272894
CCTGAGACCATGATGTTTCTG | GACAAACCAATTCTTGCTCCCGAACCTCTTGTCATGGAT c.2040
P E T M M F L | D K P I L A P E P L V M D p.680
. . . . . . g.272954
AACCTGGACTCAATTATGGAGCAGCTAAATACTTGGAATTTTCCAATTTTTGATTTAGTG c.2100
N L D S I M E Q L N T W N F P I F D L V p.700
. . . | 10 . . g.275622
GAAAATATAGGAAGAAAATGTGGCCGTATTCTTAGTCAG | GTATCTTACAGACTTTTTGAA c.2160
E N I G R K C G R I L S Q | V S Y R L F E p.720
. . . . . . g.275682
GACATGGGCCTCTTTGAAGCTTTTAAAATTCCAATTAGGGAATTTATGAATTATTTTCAT c.2220
D M G L F E A F K I P I R E F M N Y F H p.740
. . . | 11 . . . g.282274
GCTTTGGAGATTGGATATAGGGATATTCCTT | ATCATAACAGAATCCATGCCACTGATGTT c.2280
A L E I G Y R D I P Y | H N R I H A T D V p.760
. . . . . . g.282334
TTACATGCTGTTTGGTATCTTACTACACAGCCTATTCCAGGCCTCTCAACTGTGATTAAT c.2340
L H A V W Y L T T Q P I P G L S T V I N p.780
. . | 12 . . . . g.282541
GATCATGGTTCAACCAGTGATTCAG | ATTCTGACAGTGGATTTACACATGGACATATGGGA c.2400
D H G S T S D S D | S D S G F T H G H M G p.800
. . . . . . g.282601
TATGTATTCTCAAAAACGTATAATGTGACAGATGATAAATACGGATGTCTGTCTGGGAAT c.2460
Y V F S K T Y N V T D D K Y G C L S G N p.820
. . . . . . g.282661
ATCCCTGCCTTGGAGTTGATGGCGCTGTATGTGGCTGCAGCCATGCACGATTATGATCAT c.2520
I P A L E L M A L Y V A A A M H D Y D H p.840
. . . . | 13 . . g.284458
CCAGGAAGGACTAATGCTTTCCTGGTTGCAACTAGTGCTCCTCAG | GCGGTGCTATATAAC c.2580
P G R T N A F L V A T S A P Q | A V L Y N p.860
. . . . . . g.284518
GATCGTTCAGTTTTGGAGAATCATCACGCAGCTGCTGCATGGAATCTTTTCATGTCCCGG c.2640
D R S V L E N H H A A A A W N L F M S R p.880
. . . . . . g.284578
CCAGAGTATAACTTCTTAATTAACCTTGACCATGTGGAATTTAAGCATTTCCGTTTCCTT c.2700
P E Y N F L I N L D H V E F K H F R F L p.900
. . . . . . g.284638
GTCATTGAAGCAATTTTGGCCACTGACCTGAAGAAACACTTTGACTTCGTAGCCAAATTT c.2760
V I E A I L A T D L K K H F D F V A K F p.920
| 14 . . . . . g.286251
AATGGCAAG | GTAAATGATGATGTTGGAATAGATTGGACCAATGAAAATGATCGTCTACTG c.2820
N G K | V N D D V G I D W T N E N D R L L p.940
. . . . . . g.286311
GTTTGTCAAATGTGTATAAAGTTGGCTGATATCAATGGTCCAGCTAAATGTAAAGAACTC c.2880
V C Q M C I K L A D I N G P A K C K E L p.960
. . . . | 15 . . g.289717
CATCTTCAGTGGACAGATGGTATTGTCAATGAATTTTATGAACAG | GGTGATGAAGAGGCC c.2940
H L Q W T D G I V N E F Y E Q | G D E E A p.980
. . . . . . g.289777
AGCCTTGGATTACCCATAAGCCCCTTCATGGATCGTTCTGCTCCTCAGCTGGCCAACCTT c.3000
S L G L P I S P F M D R S A P Q L A N L p.1000
. . . . . . g.289837
CAGGAATCCTTCATCTCTCACATTGTGGGGCCTCTGTGCAACTCCTATGATTCAGCAGGA c.3060
Q E S F I S H I V G P L C N S Y D S A G p.1020
. . . . . . g.289897
CTAATGCCTGGAAAATGGGTGGAAGACAGCGATGAGTCAGGAGATACTGATGACCCAGAA c.3120
L M P G K W V E D S D E S G D T D D P E p.1040
. . . . . . g.289957
GAAGAGGAGGAAGAAGCACCAGCACCAAATGAAGAGGAAACCTGTGAAAATAATGAATCT c.3180
E E E E E A P A P N E E E T C E N N E S p.1060
| 16 . . . . . . g.315841
CCAA | AAAAGAAGACTTTCAAAAGGAGAAAAATCTACTGCCAAATAACTCAGCACCTCTTA c.3240
P K | K K T F K R R K I Y C Q I T Q H L L p.1080
. . . . . . g.315901
CAGAACCACAAGATGTGGAAGAAAGTCATTGAAGAGGAGCAACGGTTGGCAGGCATAGAA c.3300
Q N H K M W K K V I E E E Q R L A G I E p.1100
. . . . . . g.315961
AATCAATCCCTGGACCAGACCCCTCAGTCGCACTCTTCAGAACAGATCCAGGCTATCAAG c.3360
N Q S L D Q T P Q S H S S E Q I Q A I K p.1120
. . . . . . g.316021
GAAGAAGAAGAAGAGAAAGGGAAACCAAGAGGCGAGGAGATACCAACCCAAAAGCCAGAC c.3420
E E E E E K G K P R G E E I P T Q K P D p.1140
g.316027
CAGTGA c.3426
Q X p.1141
. . . . . . g.316087
caatggatagaatgggctgtgtttccaaacagattgacttgtcaaagactctcttcaagc c.*60
. . . . . . g.316147
cagcacaacatttagacacaacactgtagaaatttgagatgggcaaatggctattgcatt c.*120
. . . . . . g.316207
ttgggattcttcgcattttgtgtgtatatttttacagtgaggtacattgttaaaaacttt c.*180
. . . . . . g.316267
ttgctcaaagaagctttcacattgcaacaccagcttctaaggattttttaaggagggaat c.*240
. . . . . . g.316327
atatatgtgtgtgtgtatataagctcccacatagatacatgtaaaacatattcacaccca c.*300
. . . . . . g.316387
tgcacgcacacacatacacactgaaggccacgattgctggctccacaatttagtaacatt c.*360
. . . . . . g.316447
tatattaagatatatatatagtggtcactgtgatataataaatcataaaggaaaccaaat c.*420
. . . . . . g.316507
cacaaaggagatggtgtggcttagcaaggaaacagtgcaggaaatgtaggttaccaacta c.*480
. . . . . . g.316567
agcagcttttgctcttagtactgagggatgaaagttccagagcattatttgaattctgat c.*540
. . . . . . g.316627
acatcctgccaacactgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtga c.*600
. . . . . . g.316687
aagagagacagaagggaatggtttgagagggtgcttgtgtgcatgtgtgtgcatatgtaa c.*660
. . . . . . g.316747
agagatttttgtggtttaagtaactcagaatagctgtagcaaatgactgaatacatgtga c.*720
. . . . . . g.316807
acaaacagaaggaagttcactctggagtgtctttgggaggcagccattccaaatgccctc c.*780
. . . . . . g.316867
ctccatttagcttcaataaagggccttttgctgatggagggcactcaagggctgggtgag c.*840
. . . . . . g.316927
agggccacgtgtttggtattacattactgctatgcaccacttgaaggagctctatcacca c.*900
. . . . . . g.316987
gcctcaaacccgaaagactgaggcattttccagtctacttgcctaatgaatgtataggaa c.*960
. . . . . . g.317047
ctgtctatgagtatggatgtcactcaactaagatcaaatcaccatttaaggggatggcat c.*1020
. . . . . . g.317107
tctttatacctaaacacctaagagctgaagtcaggtcttttaatcaggttagaattctaa c.*1080
. . . . . . g.317167
atgatgccagagaaggcttgggaaattgtacttcagcgtgatagcctgtgtcttcttaat c.*1140
. . . . . . g.317227
ttgctgcaaaatatgtggtagagaaagaaaaggaaacagaaaaatcactctgggttatat c.*1200
. . . . . . g.317287
agcaagagatgaaggagaatatttcaacacagggtttttgtgttgacataggaaaagcct c.*1260
. . . . . . g.317347
gattcttggcaactgttgtagtttgtctttcaggggtgaaggtcccactgacaacccctg c.*1320
. . . . . . g.317407
ttgtggtgttccacacgctgtttgttggggtagcttccatcggcagtctggcccattgtc c.*1380
. . . . . . g.317467
agtcatgcttcttctggccggggagattatagagagattgtttgaagattgggttattat c.*1440
. . . . . . g.317527
tgaaagtctttttttttgtttgttttgttttggtttgtttgtttatctacacttgtttat c.*1500
. . . . . . g.317587
gctgtgagccaaacctctatttaaaaagttgatactcactttcaatattttatttcatat c.*1560
. . . . . . g.317647
tattatatatgtcatgatagttatcttgatgtaaatatgaagatttttttgtttctgtag c.*1620
. . . . . . g.317707
atagtaaactctttttttaaaaaaggaaaagggaaacatttttataaagttatattttaa c.*1680
. . . . . . g.317767
tcaccatttttatacattgtagttctctccaagcccagtaagagaatgatgattcatttg c.*1740
. . . . . . g.317827
catggaggtcgatggacaaccaatcatctaccttttctaatttaaatgataatctgatat c.*1800
. . . . . . g.317887
agttttattgccagttaaatgaggatgctgcaaagcatgttttttcactagtaacttttg c.*1860
. . . . . . g.317947
ctaactgaatgaattctgggtccatatctcccagatgaaaaactgttaaccaataccata c.*1920
. . . . . . g.318007
ttttatagttggtgtccatttctttccaacactgtttgttatgattcttccttgagtact c.*1980
. . . . . . g.318067
tatatacagacctgctcattatctaaacaatcttaccttctaagtaaaccttgattgtga c.*2040
. . . . . . g.318127
tttccagtttttattttctctgacgtagtagaaaggaatgtttacattaaaaatactttt c.*2100
. . . . . . g.318187
gtttctcataaatggatattgtactcccccctttcaaagcattattttacaataattcat c.*2160
. . . . . . g.318247
ggcattttaaaaaataaggcaaagataatacgacaaaaaatatacatggtttcaaggcaa c.*2220
. . . . . . g.318307
attctccaataagttggaaaatgtaaaaaggatcaagtggatgcagcctctacctaaata c.*2280
. . . . . . g.318367
attaaaatatatttcagtatatttctgaattaacaccaggtcttcattatttagaactta c.*2340
. . . . . . g.318427
ctaaattgttttcattttcttagttttacctgtgtatctccatgtttgcaaaaattacta c.*2400
. . . . . . g.318487
taagtcaaattttgccagtgaatttaactatttttctttccttgcaattaaggggaaaaa c.*2460
. . . . . . g.318547
agcatttatcttatcttctcataccccttgcatctaagtacttagcaaagtcaatatttt c.*2520
. . . . . . g.318607
cccattttccaaatgcgtccatctctaacataaatattaattgaacatagagctatgttt c.*2580
. . . . . . g.318667
ggagtgagtggactggcaggacagttggaagtccatcacagtctattgacagtttcatca c.*2640
. . . . . . g.318727
aagctgtatagtccaactagtggggcagcttggctactatggtggaagtctcagcaaact c.*2700
. . . . . . g.318787
gcctggttttgtttgtttgttttgttttaaggtacaggaaataagaggaataatagtggc c.*2760
. . . . . . g.318847
caaagcaattagaacatcttcattccagaactgtgttcagcaatccaggcagattgatac c.*2820
. . . . . . g.318907
atttttctttaaaaataaattgctattacagctagacgtcaattgggataaataaaggga c.*2880
. . . . . . g.318967
tgaagatccactaagtttgtgactttcatacacacccagtacatctcaaaggatgctaag c.*2940
. . . . . . g.319027
ggacattttctgccagtagagttctccccctttttggtgacagcaatattattatgttca c.*3000
. . . . . . g.319087
catctaactccagagcttacttcctgtggtgccaatgtatttgttgcaatttactacatt c.*3060
. . . . . . g.319147
tttatatgagcctatttataggtgccattaaactcaggtctttcaaatgaaagagtttct c.*3120
. . . . . . g.319207
agcccacttagggaaaaagataattgtttagaaaaccataaaatcaatggtaggaaaagt c.*3180
. . . . . . g.319267
tggaactggttacctggatgccatggttctctgttaaataaagtaagagaccaggtgtat c.*3240
. . . . . . g.319327
tctgagtgtcatcagtgttattttcagcatgctaataaatgtctttccggttatatatct c.*3300
. . . . . . g.319387
atctaaattaacctttaaaatattggtttccttgataaaagcaccacttttgcttttgtt c.*3360
. . . . . . g.319447
agctgtaatattttttgtcatttagataagacctggtttggctctcaataaaagatgaag c.*3420
. . . . . . g.319507
acagtagctctgtacagggatatatctatattagtcttcatctgatgaatgaagaaattt c.*3480
. . . . . . g.319567
tctcatattatgttcaagaaagtatttacttcctaaaaatagaattcccgattctgtcta c.*3540
. . . . . . g.319627
ttttggttgaataccagaacaaatctttccgttgcaatcccagtaaaacgaaagaaaagg c.*3600
. . . . . . g.319687
aatatcttacagactgttcatattagatgtatgtagactgttaatttgcaatttccccat c.*3660
. . . . . . g.319747
atttcctgcctatcttacccagataactttctttgaaggtaaaagctgtgcaaaaggcat c.*3720
. . . . . . g.319807
gagactcaggcctactctttgtttaaatgatggaaaaatataaattattttctaagtaat c.*3780
. . . . . g.319863
aaaagtataaaaattatcattataaataaagtctaaagtttgaaattattaattta c.*3836
(downstream sequence)
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