(used for variant description)
(last modified October 23, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001077197.1 in the PDE11A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012168.1, covering PDE11A transcript NM_001077197.1.
(upstream sequence)
. . . g.5039
cgcttgcagcccagggcgtgaggtgctctttctggatcg c.-61
. . . . . | 02 . g.8876
ccagcctcgaagttgaggcgtggactctggccaggtggctgttccag | agcaacatgggag c.-1
. . . . . . g.8936
ATGCTGAAGCAGGCAAGAAGACCTTTATTCAGAAATGTGCTCAGTGCCACACAGTGGAAA c.60
M L K Q A R R P L F R N V L S A T Q W K p.20
. . . . . . g.8996
AAGGTGAAAATCACAAGACTGGTCCAAATCTCTGGGGCCTCTTTGGCTGAAAAACAGGAA c.120
K V K I T R L V Q I S G A S L A E K Q E p.40
. . . . | 03 . . g.98897
AAGCACCAGGATTTTCTTATACAGAGGCAAACAAAAACAAAG | GATCGACGATTCAATGAT c.180
K H Q D F L I Q R Q T K T K | D R R F N D p.60
. . . . . . g.98957
GAAATCGACAAGCTAACTGGATACAAGACAAAATCATTATTGTGCATGCCTATCCGAAGC c.240
E I D K L T G Y K T K S L L C M P I R S p.80
. . . . . . g.99017
AGTGATGGTGAGATTATTGGTGTGGCCCAAGCGATAAATAAGATTCCTGAAGGAGCTCCA c.300
S D G E I I G V A Q A I N K I P E G A P p.100
. . | 04 . . . . g.208191
TTTACTGAAGATGATGAAAAA | GTTATGCAGATGTATCTTCCATTTTGTGGAATCGCCATA c.360
F T E D D E K | V M Q M Y L P F C G I A I p.120
. . . . . | 05 . g.215150
TCTAACGCTCAGCTCTTTGCTGCCTCAAGGAAAGAATATGAAAGAAGCAGA | GCTTTGCTA c.420
S N A Q L F A A S R K E Y E R S R | A L L p.140
. . . . . . g.215210
GAGGTGGTTAATGACCTCTTTGAAGAACAGACTGACCTGGAGAAAATTGTCAAGAAAATA c.480
E V V N D L F E E Q T D L E K I V K K I p.160
. . . . . . g.215270
ATGCATCGGGCCCAAACTCTGCTGAAATGTGAACGCTGTTCTGTTTTACTCCTAGAGGAC c.540
M H R A Q T L L K C E R C S V L L L E D p.180
. | 06 . . . . . g.237464
ATCGAATCACCA | GTGGTGAAATTTACCAAATCCTTTGAATTGATGTCCCCAAAGTGCAGT c.600
I E S P | V V K F T K S F E L M S P K C S p.200
. | 07. . . . . g.272999
GCTGATGCTGAGAACAG | TTTCAAAGAAAGCATGGAGAAATCATCATACTCCGACTGGCTA c.660
A D A E N S | F K E S M E K S S Y S D W L p.220
. . . . . . g.273059
ATAAATAACAGCATTGCTGAGCTGGTTGCTTCAACAGGCCTTCCAGTGAACATCAGTGAT c.720
I N N S I A E L V A S T G L P V N I S D p.240
. . . | 08 . . . g.293074
GCCTACCAGGATCCGCGCTTTGATGCAGAG | GCAGACCAGATATCTGGTTTTCACATAAGA c.780
A Y Q D P R F D A E | A D Q I S G F H I R p.260
. . . . | 09 . . g.295428
TCTGTTCTTTGTGTCCCTATTTGGAATAGCAACCACCAAATAATTG | GAGTGGCTCAAGTG c.840
S V L C V P I W N S N H Q I I G | V A Q V p.280
. . . . . | 10 . g.296424
TTAAACAGACTTGATGGGAAACCTTTTGATGATGCAGATCAACGACTTTTTGAG | GCTTTT c.900
L N R L D G K P F D D A D Q R L F E | A F p.300
. . . . . . g.296484
GTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCC c.960
V I F C G L G I N N T I M Y D Q V K K S p.320
. . | 11. . . . g.343998
TGGGCCAAGCAGTCTGTGGCTCTTGAT | GTGCTATCATACCATGCAACATGTTCAAAAGCT c.1020
W A K Q S V A L D | V L S Y H A T C S K A p.340
. | 12 . . . . g.385208
GAAGTTGACAAGTTTAAG | GCAGCCAACATCCCTCTGGTGTCAGAACTTGCCATCGATGAC c.1080
E V D K F K | A A N I P L V S E L A I D D p.360
. . . . . . g.385268
ATTCATTTTGATGACTTTTCTCTCGACGTTGATGCCATGATCACAGCTGCTCTCCGGATG c.1140
I H F D D F S L D V D A M I T A A L R M p.380
. . . . | 13 . . g.385588
TTCATGGAGCTGGGGATGGTACAGAAATTTAAAATTGACTATGAG | ACACTGTGTAGGTGG c.1200
F M E L G M V Q K F K I D Y E | T L C R W p.400
. . . . . . g.385648
CTTTTGACAGTGAGGAAAAACTATCGGATGGTTCTATACCACAACTGGAGACATGCCTTC c.1260
L L T V R K N Y R M V L Y H N W R H A F p.420
. . . | 14 . . . g.401487
AACGTGTGTCAGCTGATGTTCGCGATGTTAACC | ACTGCTGGGTTTCAAGACATTCTGACC c.1320
N V C Q L M F A M L T | T A G F Q D I L T p.440
. . . . . . g.401547
GAGGTGGAAATTTTAGCGGTGATTGTGGGATGCCTGTGTCATGACCTCGACCACAGGGGA c.1380
E V E I L A V I V G C L C H D L D H R G p.460
. . | 15 . . . . g.412164
ACCAACAATGCCTTCCAAGCTAA | GAGTGGCTCTGCCCTGGCCCAACTCTATGGAACCTCT c.1440
T N N A F Q A K | S G S A L A Q L Y G T S p.480
. . . . . | 16 . g.415912
GCTACCTTGGAGCATCACCATTTCAACCACGCCGTGATGATCCTTCAAAGTGAG | GGTCAC c.1500
A T L E H H H F N H A V M I L Q S E | G H p.500
. . . . . . g.415972
AATATCTTTGCTAACCTGTCCTCCAAGGAATATAGTGACCTTATGCAGCTTTTGAAGCAG c.1560
N I F A N L S S K E Y S D L M Q L L K Q p.520
. . . | 17 . . . g.432460
TCAATATTGGCAACAGACCTCACGCTGTACTTTGA | GAGGAGAACTGAATTCTTTGAACTT c.1620
S I L A T D L T L Y F E | R R T E F F E L p.540
. . . . . | 18 . g.437827
GTCAGTAAAGGAGAATACGATTGGAACATCAAAAACCATCGTGATATATTTCG | ATCAATG c.1680
V S K G E Y D W N I K N H R D I F R | S M p.560
. . . . . | 19. g.443774
TTAATGACAGCCTGTGACCTTGGAGCCGTGACCAAACCGTGGGAGATCTCCAGACAG | GTG c.1740
L M T A C D L G A V T K P W E I S R Q | V p.580
. . . . . . g.443834
GCAGAACTTGTAACCAGTGAGTTCTTCGAACAAGGAGATCGGGAGAGATTAGAGCTCAAA c.1800
A E L V T S E F F E Q G D R E R L E L K p.600
. | 20 . . . . . g.449437
CTCACTCCTTCA | GCAATTTTTGATCGGAACCGGAAGGATGAACTGCCTCGGTTGCAACTG c.1860
L T P S | A I F D R N R K D E L P R L Q L p.620
. . . | 21 . . . g.483800
GAGTGGATTGATAGCATCTGCATGCCTTTGTATCAG | GCACTGGTGAAGGTCAACGTGAAA c.1920
E W I D S I C M P L Y Q | A L V K V N V K p.640
. . . . . . g.483860
CTGAAGCCGATGCTAGATTCAGTAGCTACAAACAGAAGTAAGTGGGAAGAGCTACACCAA c.1980
L K P M L D S V A T N R S K W E E L H Q p.660
. . . . . . g.483920
AAACGACTGCTGGCCTCAACTGCCTCATCCTCCCCTGCCAGTGTTATGGTAGCCAAGGAA c.2040
K R L L A S T A S S S P A S V M V A K E p.680
. g.483932
GACAGGAACTAA c.2052
D R N X p.683
. . . . . . g.483992
acctccaggtcagctgcagctgcaaaatgactacagcctgaagggccattttcagtccag c.*60
. . . . . . g.484052
caatgtcatccttttgttcttttagctcagaaagacctaacatctcaaggatgcactggg c.*120
. . . . . . g.484112
aagcatgcctgggctttcaccttgaagcatggtcagcagcagagagagcaacgggaagga c.*180
. . . . . . g.484172
caaagaaagaggtggggcagggagcacaccccaggaccctcacttttccctaatgaacac c.*240
. . . . . . g.484232
gcatgggctgaaatgaaggctctgggtaggggactgttttggatccaaggacctgtggac c.*300
. . . . . . g.484292
agtcggcctacttactctgagctgagggaacactgaacagtaaaagcgtcattagcgctg c.*360
. . . . . . g.484352
cttcgttttgtatagggcttttctgtttgttacaagccaaacactgcctgtctttgcttc c.*420
. . . . . . g.484412
ctgtccctgaatgcctttttgtgccagactgtcccaagaatcctaatttgtattccatag c.*480
. . . . . . g.484472
aggtattttatttttaatcctagagcttcttattgatggatcctttagaattgcctacct c.*540
. . . . . . g.484532
aaaaggtaaactatactatccttataaatactgatcaatcccagttctccccctaaaaat c.*600
. . . . . . g.484592
gaatacatagtaggactatagcaaatgtgtttgatgggtaattctagactgggactatgg c.*660
. . . . . . g.484652
tacccttttccagagttttaaaattcaaccttcattacagacaaagttttctcccagaag c.*720
. . . . . . g.484712
gaatggattgatagattttgattaaagtaagggtggaaggaaatctgtagctggatttac c.*780
. . . . . . g.484772
cacaagtgacatctagaaactatagttcacaggacagagcagagccatggagactaagca c.*840
. . . . . . g.484832
ttgactaccttgagttctcctagtgaggagttctggtataaaatttaagattactaccag c.*900
. . . . . . g.484892
taaccaacttaaagcaaactataggggtccctaattttggatttttccttaagtgtaaga c.*960
. . . . . . g.484952
aacaatgcttcaaatgttaagaaataacagtctgggcaaagaacgcatattctataggaa c.*1020
. . . . . . g.485012
gccaggtttacaataggtaagaataaactgtattaagtagatgtaatgactagaaagctg c.*1080
. . . . . . g.485072
ctttgctccctatattgagaaattgtggacatggtatgtgttatccaaagaacattgggc c.*1140
. . . . . . g.485132
tagaagatagatttctatccttagctttggcattattgactggattgacttgaacaagtc c.*1200
. . . . . . g.485192
acttaacttctacaagcttgtttccttatttgtcaaattagattacactaggaaacgatt c.*1260
. . . . . . g.485252
ctcgaacatgttttaaccttacaactctttgttcaaataaatctttcaatgaatccccaa c.*1320
. . . . . . g.485312
catataaaacgtcaaaaagctgaattcctatgtgaattataagcagggtttggacatcca c.*1380
. . . . . . g.485372
gagcacctacaaaccttcatctctttgattacgtacatgggggtccacagggactctgaa c.*1440
. . . . . . g.485432
gagtttgaaaatccctggcctagattaaacctgagagccattctagctcttaaaaaaatc c.*1500
. . . . . . g.485492
tgaaatttacaaaccatttttcttgttattgtttttgtttctttgtttgtttgttttttg c.*1560
. . . . . . g.485552
agactgagttttcactcttgttgcccaggctggagtgcaatggcgtgatctcggcttact c.*1620
. . . . . . g.485612
gcaacctctgcttcctgggttcaagcaattctccagcctcaacctcctgagaagctggga c.*1680
. . . . . . g.485672
ttacaggtgcctgccaccacgcctggctaatttttgtacttttagtagacacagggtttc c.*1740
. . . . . . g.485732
accatgtttgccaggctgatctcaaactcctgacctcaggtgagccacccacctctgcct c.*1800
. . . . . . g.485792
ccgaaagtgctgggattacaggcgtgagccaccgtacccggcccttgttattgttattaa c.*1860
. . . . . . g.485852
tcattatcaatcattaactttacagatattaaagaaataggggccatgttctacatgcga c.*1920
. . . . . . g.485912
cattgttttcctggcacacagtagacaattcaggaaatgtctgaagaaggaatgggtaaa c.*1980
. . . . . . g.485972
attaagataccaaaatggaattgaggggagagcaggtaattgtagagaaaaagactcttt c.*2040
. . . . . . g.486032
atggcaagaaacaaagtaaaagaaatgtatagaccgggcgcggtggctcacgcctgtaat c.*2100
. . . . . . g.486092
cccagcaatttggaaggccgaggcgggcggatcacgaggtcaggagatcgagaccgtcct c.*2160
. . . . . . g.486152
ggctaacacggtgaaaccctgtctctactaaaaaacacaaaacaaattagccaggcgcgg c.*2220
. . . . . . g.486212
tggcaggcgtctgtagtcccagctactggggaggctgaggcaagagaatggcgggaaccc c.*2280
. . . . . . g.486272
gcgaggcggagcttgcagtgagtcgagatcacgtcactgccctccagcctgggcgaccag c.*2340
. . . . . . g.486332
cgagactccgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaagtataaaccag c.*2400
. . . . . . g.486392
actaagaggggaataaaagcaagaagaaaaagaaacgtaagaacaccagtaaaggaaaga c.*2460
. . . . . . g.486452
cagggaccgagacaggtggttaagggaaatgaaaaaaaaaaaaaaaaggtgaaagtcaat c.*2520
. . . . . . g.486512
ccaaacaaagaaaaatggcacttccaaccaaaaaaaatgaaggtgtagaaccctgtcatc c.*2580
. . . . . . g.486572
aattgctcagaaaagagagacacttgagcagggaggggtttgagaaaggggagaaggaag c.*2640
. . . . . . g.486632
gagtgagagccctaaaaaataatgttcctagctaccctttacagctgtctctgcagggaa c.*2700
. . . . . . g.486692
gactggagaaagtagagggggaaatgaatgcaggaagaaactgcctctgcagagcaggta c.*2760
. . . . . . g.486752
agaggaggttgttcagatttatggattttattaagccagttttctgtatcactctgctat c.*2820
. . . . . . g.486812
aaaggaaaatagcttctgcagggctgtctctcctccttcaggtggggaacaaagggtggg c.*2880
. . . . . . g.486872
tggagtcagggacagagtctggtctgcgagatcgtgacgtgtctgcagctccgaagcact c.*2940
. . . . . . g.486932
gcaggtgtttctgggtaatgtgccacatcatgtttatatcacgaacgggaattgaaaatc c.*3000
. . . . . . g.486992
agtctgtgtgaggcagagatgagcccacatctgttatcctccccaacaataaataaataa c.*3060
. . . . . . g.487052
atagcccagacaaatggatgccagtccatctacagcaacattttaaagcatgtgctttat c.*3120
. . . . . . g.487112
gacaaaactggacccagggtctgacagagactgcaggctgccgtgagcactgtagctatc c.*3180
. . . . . . g.487172
ctgaacattgatgctacatattgctaaggggaacataatttatagcataaaccctacaag c.*3240
. . . . . . g.487232
cttccactaaggttgagttttcctctcattttcttgccgttttattggcttcactgcatg c.*3300
. . . . . . g.487292
gttgccaatagcaacatccactggtagcaaggggagttcaacaccattgcaatctgccat c.*3360
. . . . . . g.487352
acagtggagccctgacaatgtcaaccatcaatctagtagctgtttgtaattgcctccatc c.*3420
. . . . . . g.487412
tatttctcctgtcttgaggtatctttcctattgtgggtcaagatttagaaactgctgact c.*3480
. . . . . . g.487472
aatgccatgggtctgtgtctccatgactatgaagcagtggacaggaaggtagcagcttcc c.*3540
. . . . . . g.487532
tggtgccaacaaccccagaggttagaggttgaactcttgcgggtttcaggcgtttttaat c.*3600
. . . . . . g.487592
cccttttctaaacaatttataattttgcaagaatgtgaggcatatgcagttatccatata c.*3660
. . . . . . g.487652
atctgcttttccaaaaaagagaaaggaagtttcccagtccttattattaatgtttatttc c.*3720
. . . . . . g.487712
ctattggagaaagacatttgaaatatgagccttcttgtaaaaactcaaactgaccagatt c.*3780
. . . . . . g.487772
atgtttgcttcctcaggtctcttggcattaattgttgaaataacttcatcctactttttc c.*3840
. . . . . . g.487832
gatgagatgtatttttttcagacatatttattcttactagtcactatgtagctattatgt c.*3900
. . . . . . g.487892
gcacaatctacaatgtagtggcaatcctggtgggtagggacagcttcacatactgcaaag c.*3960
. . . . . . g.487952
ggtgccattcagtgcatagcagactggaactccctcctagcttggccaccagctgaacct c.*4020
. . . . . . g.488012
gtaatcttaggactctccaagtcttagaatctccatctattacataaaagcactgacttt c.*4080
. . . . . . g.488072
tattcagtccccacaccaaaggaccaagacgtgtttagctttaaagaaattttccagata c.*4140
. . . . . . g.488132
attttcttttttattcttctcaaataaaatagcaacaaacctaaagcagtcatcttctta c.*4200
. . . . . . g.488192
ataaagacataataaaacttacatatatggggtagatgtaagcacaatcatactacagat c.*4260
. . . . . . g.488252
gtatcttgagcctgtctctaattatgatgaaagatgtagtcatcaatacaatttaaaaaa c.*4320
. . . . . . g.488312
agatatgtcctttttttgagacagggtcttgctctgtcacccaggctggagggcagtggc c.*4380
. . . . . . g.488372
acaatcacagccactgcagccttgacctctccaacttaagtgatctttcctgcctcagcc c.*4440
. . . . . . g.488432
tcatgagtagctgggaccacaggtgtgcaccaccacacccagctaaattttgtattgttt c.*4500
. . . . . . g.488492
gtaaagacgaggcctcactatgctgaccacactggtctcgaactcctgggctcaagcaat c.*4560
. . . . . . g.488552
cctcctgccttggcctcccaaagtgttagggttagagatatgaaccaccacacccacctt c.*4620
. . . . . . g.488612
atatgtccttttatttcataaaaaacaattttagattatctgatatcacacatatcccat c.*4680
. . . . . . g.488672
aaatggtagtcattaatttagaagtgaatttataaagttaagagaagttaaaattgcaca c.*4740
. . . . . . g.488732
tgcattttgtttctaaaatctgagatgtctatgcatttccaggtattgtatatttgcaaa c.*4800
. . . . . . g.488792
tacattgggttagaaatcatctttaacattttgtgttagtgtaataacaatattatctaa c.*4860
. . . . . . g.488852
tattaatgctgccagaatccagttgctttttctgtgtatcaaaatttatcataacttttt c.*4920
. . . . . . g.488912
ccacttaacactaggtaattaaacagaatctgcccaatttattctgcagtaaaattattt c.*4980
. . . . . . g.488972
taaaatctatttttcctgctgactcttagaaattgcagaaagacaaaaaccagtttcatc c.*5040
. . . . . . g.489032
tccagtaatagtgtgaaacaatttccttccagtgggacagaaacctagacatactaggga c.*5100
. . . . . . g.489092
aagatttaaatataaagaaaaatgccttggctgaaaaaaaaaaaaaccaccaaaacacaa c.*5160
. . . . . . g.489152
aaaggattcattaaagcaacagaacaaaacctaatttgggaccctaaaaactctggcaat c.*5220
. . . . . . g.489212
gccactgtaatgaagtttcattatctgcttcagagtaacagtctctgaaattgttattct c.*5280
. . . . . . g.489272
gctacatgctgtaaagaactcccaaaactcaaatgtatcaggaaatgtaaaggttaagtc c.*5340
. . . . . . g.489332
tgactacaagaaggccaaaattgcaccagcttcctaagtgaagaataatagaataaaaca c.*5400
. . . . . . g.489392
tatagagggcagaaataaaatgaggtgtatctggagaatttcatgatgagcatttagatt c.*5460
. . . . . . g.489452
tagcaatgcccaatgtcatgctgacactgtttgtcatgaccttgtcttcagctagtaatt c.*5520
. . . . . . g.489512
tggggttgtacttttttaaatttaattttgaatgttcttgcatgtttggtacctctctcc c.*5580
. . . . . . g.489572
tcactgctaaagataaattgtttatctgtataacataactacaccaatgtcatttttgta c.*5640
. . . . . . g.489632
tacgctagtacacaaatgtgtttttttattaagtaatgaagtatttgctgtgaaaaatgt c.*5700
. . . . . . g.489692
attatttgtgccaccgtttatatctgtgttcattttctgtgtgtatatgcgtgtgtattc c.*5760
. . . . . . g.489752
gaatctcaatttttcttttactctagtttagattaagacatatttagatgaaattttaaa c.*5820
. . . . . . g.489812
aataacattggaaataggaggctaagttttgttgagtctcattcccttggggggaaattg c.*5880
. . . . . . g.489872
cttttgccattttattttcatgtacaataacctaaaaaggatctcctactgacttccttc c.*5940
. . . . . . g.489932
ctaattattattgttttacacgaaagaaaggaaatacgttttcaattgagttgtttgaaa c.*6000
. . . . . . g.489992
tcattcactttgtgtagatttcccagactgatgtttcattgtaagaatattacattatag c.*6060
. . . . . . g.490052
acaggttggccatttcacaagcaactaatccatagttttggaagcccgctttaagagacc c.*6120
. . . g.490090
tgaatatctttgtttttaataaaatacttagagtttaa c.*6158
(downstream sequence)
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