(used for variant description)
(last modified June 26, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_015032.3 in the PDS5B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021308.1, covering PDS5B transcript NM_015032.3.
(upstream sequence)
g.5006
gagcag c.-181
. . . . . . g.5066
ccgccgaagagcgcttggcgccattttgaagcggagaggaggaggaacggcagggctggc c.-121
. . . . . . g.5126
tgcggaaggggagggggggggagaaggcgattggatgcggcggcggcggcggatcccgga c.-61
. . . . . | 02 . g.67346
gagccccggagtgagcggagtagcgagtcggcaacccggag | gggtagaaatatttctgtc c.-1
. . . . . . g.67406
ATGGCTCATTCAAAGACTAGGACCAATGATGGAAAAATTACATATCCGCCTGGGGTCAAG c.60
M A H S K T R T N D G K I T Y P P G V K p.20
. . . . | 03 . g.70389
GAAATATCAGATAAAATATCTAAAGAGGAGATGGTGAGACGATTAAAG | ATGGTTGTGAAA c.120
E I S D K I S K E E M V R R L K | M V V K p.40
. . . . . . g.70449
ACTTTTATGGATATGGACCAGGACTCTGAAGAAGAAAAGGAGCTTTATTTAAACCTAGCT c.180
T F M D M D Q D S E E E K E L Y L N L A p.60
. . . . . . g.70509
TTACATCTTGCTTCAGATTTTTTTCTCAAGCATCCTGATAAAGATGTTCGCTTACTGGTA c.240
L H L A S D F F L K H P D K D V R L L V p.80
. . . . . . g.70569
GCCTGCTGCCTTGCTGATATTTTCAGGATTTATGCTCCTGAAGCTCCTTACACATCCCCT c.300
A C C L A D I F R I Y A P E A P Y T S P p.100
. | 04 . . . . . g.76860
GATAAACTAAAG | GATATATTTATGTTTATAACAAGACAGTTGAAGGGGCTAGAGGATACA c.360
D K L K | D I F M F I T R Q L K G L E D T p.120
. . . | 05 . . g.77028
AAGAGCCCACAATTCAATAGGTATTTTTATTTACTTGAG | AACATTGCTTGGGTCAAGTCA c.420
K S P Q F N R Y F Y L L E | N I A W V K S p.140
. . . . . . g.77088
TATAACATATGCTTTGAGTTAGAAGATAGCAATGAAATTTTCACCCAGCTATACAGAACC c.480
Y N I C F E L E D S N E I F T Q L Y R T p.160
. | 06. . . . . g.77770
TTATTTTCAGTTATAAA | CAATGGCCACAATCAGAAAGTCCATATGCACATGGTAGACCTT c.540
L F S V I N | N G H N Q K V H M H M V D L p.180
. . . . . . g.77830
ATGAGCTCTATTATTTGTGAAGGTGATACAGTGTCTCAGGAGCTTTTGGATACGGTTTTA c.600
M S S I I C E G D T V S Q E L L D T V L p.200
. . | 07 . . . . g.86373
GTAAATCTGGTACCTGCTCATAAG | AATTTAAACAAGCAAGCATATGATTTGGCAAAGGCT c.660
V N L V P A H K | N L N K Q A Y D L A K A p.220
. . . . | 08 . . g.91804
TTACTGAAGAGGACAGCTCAAGCTATTGAGCCATATATTACCAAT | TTTTTTAATCAGGTT c.720
L L K R T A Q A I E P Y I T N | F F N Q V p.240
. . . . . . g.91864
CTGATGCTTGGGAAAACATCTATCAGCGATTTGTCAGAGCATGTCTTTGACTTAATTTTG c.780
L M L G K T S I S D L S E H V F D L I L p.260
. . . . . . g.91924
GAGCTCTACAATATTGATAGTCATTTGCTGCTCTCTGTTTTACCCCAGCTTGAATTTAAA c.840
E L Y N I D S H L L L S V L P Q L E F K p.280
| 09 . . . . . . g.94471
TTAAAG | AGCAATGATAATGAGGAGCGCCTACAAGTTGTTAAACTACTGGCAAAAATGTTT c.900
L K | S N D N E E R L Q V V K L L A K M F p.300
. . . . . . g.94531
GGGGCAAAGGATTCAGAATTGGCTTCTCAAAACAAGCCACTTTGGCAGTGCTACTTGGGC c.960
G A K D S E L A S Q N K P L W Q C Y L G p.320
| 10 . . . . . . g.97466
AG | GTTTAATGATATCCATGTACCAATCCGCCTGGAATGTGTGAAATTTGCTAGCCATTGT c.1020
R | F N D I H V P I R L E C V K F A S H C p.340
. . . | 11. . . g.102474
CTCATGAACCATCCTGATTTAGCAAAAGACTTAACAG | AGTATCTTAAAGTGAGGTCACAT c.1080
L M N H P D L A K D L T E | Y L K V R S H p.360
. . . . . . g.102534
GACCCTGAGGAAGCTATTAGACATGATGTTATTGTGTCAATAGTTACAGCTGCTAAAAAG c.1140
D P E E A I R H D V I V S I V T A A K K p.380
. . . . . . g.102594
GATATTCTTCTGGTCAATGATCACTTACTTAATTTTGTGAGAGAGAGAACATTAGACAAA c.1200
D I L L V N D H L L N F V R E R T L D K p.400
| 12 . . . . . . g.105764
CGA | TGGAGAGTACGCAAAGAAGCCATGATGGGACTTGCCCAAATTTATAAGAAATATGCT c.1260
R | W R V R K E A M M G L A Q I Y K K Y A p.420
. . . . . . g.105824
TTACAGTCAGCAGCTGGAAAAGATGCTGCAAAACAGATAGCATGGATCAAAGACAAATTG c.1320
L Q S A A G K D A A K Q I A W I K D K L p.440
. . . | 13 . . . g.107054
CTACATATATATTATCAAAATAGTATTGATGATCG | ACTACTTGTTGAACGGATCTTTGCT c.1380
L H I Y Y Q N S I D D R | L L V E R I F A p.460
. . . . . . g.107114
CAATACATGGTTCCTCACAATTTAGAAACTACAGAACGGATGAAATGCTTATATTACTTG c.1440
Q Y M V P H N L E T T E R M K C L Y Y L p.480
. . | 14 . . . g.112827
TATGCCACACTGGATTTAAATGCTGTGAA | AGCATTGAATGAAATGTGGAAATGTCAAAAT c.1500
Y A T L D L N A V K | A L N E M W K C Q N p.500
. . . . . | 15 . g.115436
CTGCTCCGACATCAAGTAAAGGATTTGCTTGACTTGATTAAGCAACCCAAA | ACAGATGCC c.1560
L L R H Q V K D L L D L I K Q P K | T D A p.520
. . . . | 16 . . g.118323
AGTGTCAAGGCCATATTTTCAAAAGTGATGGTTATTACAA | GAAATTTACCTGATCCTGGT c.1620
S V K A I F S K V M V I T R | N L P D P G p.540
. . . . . . g.118383
AAGGCTCAGGATTTCATGAAGAAATTCACACAGGTGTTAGAAGATGATGAGAAAATAAGA c.1680
K A Q D F M K K F T Q V L E D D E K I R p.560
. . . . . . g.118443
AAGCAGTTAGAAGTACTTGTTAGTCCAACATGCTCCTGCAAGCAGGCTGAAGGTTGTGTG c.1740
K Q L E V L V S P T C S C K Q A E G C V p.580
| 17 . . . . . . g.119956
| CGTGAAATAACTAAGAAGTTGGGCAACCCCAAACAGCCTACAAATCCTTTCCTGGAAATG c.1800
| R E I T K K L G N P K Q P T N P F L E M p.600
. . . . . | 18 . g.125511
ATCAAGTTTCTCTTGGAGAGGATAGCACCTGTGCACATAGATACCGAATCTATCAG | TGCT c.1860
I K F L L E R I A P V H I D T E S I S | A p.620
. . . . . . g.125571
CTTATTAAACAAGTGAACAAATCAATAGATGGAACAGCAGATGATGAAGATGAGGGTGTT c.1920
L I K Q V N K S I D G T A D D E D E G V p.640
. . . . | 19 . . g.128537
CCAACTGATCAAGCCATCAGAGCAGGTCTTGAACTGCTTAAG | GTACTCTCATTTACACAT c.1980
P T D Q A I R A G L E L L K | V L S F T H p.660
. . . . . . g.128597
CCCATCTCATTTCATTCTGCTGAAACATTTGAATCATTACTGGCTTGTCTGAAAATGGAT c.2040
P I S F H S A E T F E S L L A C L K M D p.680
. . . . . . g.128657
GATGAAAAAGTAGCAGAAGCTGCACTACAAATTTTCAAAAACACAGGAAGCAAAATTGAA c.2100
D E K V A E A A L Q I F K N T G S K I E p.700
. . | 20 . . . . g.150711
GAGGATTTTCCACACATCAGATC | AGCCTTGCTTCCTGTTTTACATCACAAATCTAAAAAA c.2160
E D F P H I R S | A L L P V L H H K S K K p.720
. . . . . . g.150771
GGACCCCCCCGTCAAGCCAAATATGCCATTCATTGTATCCATGCGATATTTTCTAGTAAA c.2220
G P P R Q A K Y A I H C I H A I F S S K p.740
. . | 21. . . . g.153778
GAGACCCAGTTTGCACAGATATTTGAG | CCTCTGCATAAGAGCCTAGATCCAAGCAACCTG c.2280
E T Q F A Q I F E | P L H K S L D P S N L p.760
. . . . . . g.153838
GAACATCTCATAACACCATTGGTTACTATTGGTCATATTGCTCTCCTTGCACCTGATCAA c.2340
E H L I T P L V T I G H I A L L A P D Q p.780
. . . . . . g.153898
TTTGCTGCTCCTTTGAAATCTTTGGTAGCTACTTTCATTGTGAAAGATCTTCTCATGAAT c.2400
F A A P L K S L V A T F I V K D L L M N p.800
| 22 . . . . . . g.159708
GATCGG | CTTCCAGGGAAAAAGACAACTAAACTTTGGGTTCCAGATGAAGAAGTATCTCCT c.2460
D R | L P G K K T T K L W V P D E E V S P p.820
. | 23 . . . . . g.161210
GAGACAATGGTCAAA | ATTCAGGCTATTAAAATGATGGTTCGATGGCTACTTGGAATGAAA c.2520
E T M V K | I Q A I K M M V R W L L G M K p.840
. . . . . . g.161270
AATAATCACAGTAAATCAGGAACTTCTACCTTAAGATTGCTAACAACAATATTGCATAGT c.2580
N N H S K S G T S T L R L L T T I L H S p.860
. . . | 24 . . . g.164579
GATGGAGACTTGACAGAACAGGGGAAAATTAG | TAAACCAGATATGTCACGTCTGAGACTT c.2640
D G D L T E Q G K I S | K P D M S R L R L p.880
. . . . . . g.164639
GCTGCTGGGAGTGCTATTGTGAAGCTGGCACAAGAACCCTGTTACCATGAAATCATCACA c.2700
A A G S A I V K L A Q E P C Y H E I I T p.900
. . . | 25 . . . g.171930
TTAGAACAATATCAGCTATGTGCATTAGCTATCAAC | GATGAATGCTATCAAGTAAGACAA c.2760
L E Q Y Q L C A L A I N | D E C Y Q V R Q p.920
. . . . . . g.171990
GTGTTTGCCCAGAAACTTCACAAAGGCCTTTCCCGTTTACGGCTTCCACTTGAGTATATG c.2820
V F A Q K L H K G L S R L R L P L E Y M p.940
. . . . . . g.172050
GCAATCTGTGCCCTTTGTGCAAAAGATCCTGTAAAGGAGAGAAGAGCTCATGCTAGGCAA c.2880
A I C A L C A K D P V K E R R A H A R Q p.960
. . . . . . g.172110
TGTTTGGTGAAAAATATAAATGTAAGGCGGGAGTATCTGAAGCAGCATGCAGCTGTTAGT c.2940
C L V K N I N V R R E Y L K Q H A A V S p.980
| 26 . . . . . . g.174475
G | AAAAATTATTGTCTCTTCTACCAGAGTATGTTGTTCCATATACAATTCACCTTTTGGCA c.3000
E | K L L S L L P E Y V V P Y T I H L L A p.1000
. . . . . | 27 . g.176665
CATGACCCAGATTATGTCAAAGTACAGGATATTGAACAACTTAAAGATGTTAAAGA | ATGT c.3060
H D P D Y V K V Q D I E Q L K D V K E | C p.1020
. . . . . . g.176725
CTTTGGTTTGTTCTGGAAATATTAATGGCTAAAAATGAAAATAACAGTCACGCTTTTATC c.3120
L W F V L E I L M A K N E N N S H A F I p.1040
. . . . . . g.176785
AGAAAGATGGTAGAAAATATTAAACAAACAAAAGATGCCCAAGGACCAGATGATGCAAAA c.3180
R K M V E N I K Q T K D A Q G P D D A K p.1060
| 28 . . . . . g.177159
ATGAATGAA | AAACTGTACACTGTGTGTGATGTTGCCATGAATATCATCATGTCAAAGAGT c.3240
M N E | K L Y T V C D V A M N I I M S K S p.1080
. . . . . . g.177219
ACTACATACAGTTTGGAATCTCCTAAAGACCCGGTACTACCAGCTCGTTTCTTCACTCAA c.3300
T T Y S L E S P K D P V L P A R F F T Q p.1100
| 29 . . . . . g.178253
CCTGACAAG | AATTTCAGTAACACCAAAAATTATCTGCCTCCTGAAATGAAATCATTTTTC c.3360
P D K | N F S N T K N Y L P P E M K S F F p.1120
. | 30 . . . . . g.179197
ACTCCTGGAAAA | CCTAAAACAACCAATGTTCTAGGAGCTGTTAACAAGCCACTTTCATCA c.3420
T P G K | P K T T N V L G A V N K P L S S p.1140
. . . . . . g.179257
GCAGGCAAGCAATCTCAGACCAAATCATCACGAATGGAAACTGTAAGCAATGCAAGCAGC c.3480
A G K Q S Q T K S S R M E T V S N A S S p.1160
. . . | 31 . . g.183085
AGCTCAAATCCAAGCTCTCCTGGAAGAATAAAGGGGAG | GCTTGATAGTTCTGAAATGGAT c.3540
S S N P S S P G R I K G R | L D S S E M D p.1180
. . . . . . g.183145
CACAGTGAAAATGAAGATTACACAATGTCTTCACCTTTGCCGGGGAAAAAAAGTGACAAG c.3600
H S E N E D Y T M S S P L P G K K S D K p.1200
. . | 32 . . . . g.188731
AGAGACGACTCTGATCTTGTAAGG | TCTGAATTGGAGAAGCCTAGAGGCAGGAAAAAAACG c.3660
R D D S D L V R | S E L E K P R G R K K T p.1220
. . . . . . g.188791
CCCGTCACAGAACAGGAGGAGAAATTAGGTATGGATGACTTGACTAAGTTGGTACAGGAA c.3720
P V T E Q E E K L G M D D L T K L V Q E p.1240
. . . . . . g.188851
CAGAAACCTAAAGGCAGTCAGCGAAGTCGGAAAAGAGGCCATACGGCTTCAGAATCTGAT c.3780
Q K P K G S Q R S R K R G H T A S E S D p.1260
. . . . . . g.188911
GAACAGCAGTGGCCTGAGGAAAAGAGGCTCAAAGAAGATATATTAGAAAATGAAGATGAA c.3840
E Q Q W P E E K R L K E D I L E N E D E p.1280
. . . . . . g.188971
CAGAATAGTCCGCCAAAAAAGGGTAAAAGAGGCCGACCACCAAAACCTCTTGGTGGAGGT c.3900
Q N S P P K K G K R G R P P K P L G G G p.1300
. . . . . . g.189031
ACACCAAAAGAAGAGCCAACAATGAAAACTTCTAAAAAAGGAAGCAAAAAAAAATCTGGA c.3960
T P K E E P T M K T S K K G S K K K S G p.1320
. . . . . . g.189091
CCTCCAGCACCAGAGGAGGAGGAAGAAGAAGAAAGACAAAGTGGAAATACGGAACAGAAG c.4020
P P A P E E E E E E E R Q S G N T E Q K p.1340
. . . . | 33 . . g.189244
TCCAAAAGCAAACAGCACCGAGTGTCAAGGAGAGCACAGCAGAG | AGCAGAATCTCCTGAA c.4080
S K S K Q H R V S R R A Q Q R | A E S P E p.1360
. . . . . . g.189304
TCTAGTGCAATTGAATCCACACAGTCCACACCACAGAAAGGACGAGGAAGACCATCAAAA c.4140
S S A I E S T Q S T P Q K G R G R P S K p.1380
. . . | 34 . . . g.191791
ACGCCATCACCATCACAACCAAAAAAAAATGT | CCGTGTAGGACGCTCCAAACAAGCAGCT c.4200
T P S P S Q P K K N V | R V G R S K Q A A p.1400
. . . . . . g.191851
ACTAAGGAAAATGATTCAAGTGAAGAAGTAGATGTGTTTCAGGGTAGCTCTCCTGTCGAT c.4260
T K E N D S S E E V D V F Q G S S P V D p.1420
. . . . | 35 . g.193603
GATATTCCACAGGAAGAAACAGAGGAGGAGGAAGTTTCTACAGTAAAT | GTACGGCGGCGA c.4320
D I P Q E E T E E E E V S T V N | V R R R p.1440
. . g.193627
AGTGCTAAAAGGGAACGGCGATGA c.4344
S A K R E R R X p.1447
. . . . . . g.193687
acaaatgtaattaataactttctctgtgaaagctttggaaaaatcttttttttttttttt c.*60
. . . . . . g.193747
ggtcaagcttgaggctgaataaagcctttgatgcacaaaatgggactgctgaagagtgga c.*120
. . . . . . g.193807
cagttggaccttactttggtgaccccatacatttgtggtcacatgctttagccatacaca c.*180
. . . . . . g.193867
tggtaacattgactatggagtcttgtgaaagtgtaatgtgcgatggctatgtagacataa c.*240
. . . . . . g.193927
agaagaaacttgtaaatatcttttttcttttttttaatgtttctgatttctgaagtgctt c.*300
. . . . . . g.193987
gtatagcttttatctgcggctttaaactgacagtacccgactgtttattggatctattga c.*360
. . . . . . g.194047
tttgaaaagaatttgttaggatagatcttaagcagtaatctgtcagtgtttgtatttgta c.*420
. . . . . . g.194107
ttctctgcaattttactgtgaaaaaaaatttgttttcaacaattggtgtcattttcttga c.*480
. . . . . . g.194167
tgtcactatttgttggagagttaaatggtctcttccctttgtgtatcttacctagtgttt c.*540
. . . . . . g.194227
actcctgggcacccttaatcttcagaggtgctaaattgtctgccattacaccagaaggat c.*600
. . . . . . g.194287
gcctctgataggaggacaaccatgcaaattgtgaaatagtcctgaagttcttggattact c.*660
. . . . . . g.194347
ttacacctcagtattgatttgtcccagaattttctggcctttcatggcaatgaaaatttt c.*720
. . . . . . g.194407
aagaagaaagatttaaagtattttaattttaaagagtgtgttataaaataatgtactgaa c.*780
. . . . . . g.194467
ttctttatcccattttatcatcctttcagtttttattaatctactgtatcaataaaattc c.*840
. . . . . . g.194527
tgtaatttgaatgagtttttaatagtctagaatgttattgtgtatagatatttcctcttg c.*900
. . . . . . g.194587
aacgttatgttcagaaaatgcaaattacactataatataaaacctgatatatacacatta c.*960
. . . . . . g.194647
gaaatattccagttctccgtaacagtgtaaagttaatcagaaagaaaaaattttattgat c.*1020
. . . . . . g.194707
gcagtgtgtctttataaagctgttcttgaaagccaagtgttttgtattttatagtgagtt c.*1080
. . . . . . g.194767
gcatgtttttgaaaaaaagtgctgaaaatgggatgtgctgttttctgtaaattcatattt c.*1140
. . . . . . g.194827
agccatagtatatgatagattgccccataacatagtttttcatcaagagtttattattgt c.*1200
. . . . . . g.194887
actttattttggagccaaaaaattgattctggggggtgggggcagcgtagaagtggtata c.*1260
. . . . . . g.194947
tccaagtatatcagctactgtagttgtcacagtcttgtgaactttgaatgaaattccact c.*1320
. . . . . . g.195007
ttgtccagattgggagaagtggaaatttatttggatttagagcaggtctttttttttctt c.*1380
. . . . . . g.195067
cattgtaatctgcaaaatgtagaaataaattacttaaggcagtatcctttatacagttgt c.*1440
. . . . . . g.195127
ataaactgtattttgaaccaaaacatataggttactacttaatgcttacctaatttcatt c.*1500
. . . . . . g.195187
ttagtattttaggtgctgttatgttttttcatggttaacaccagaggggaaaaaatcata c.*1560
. . . . . . g.195247
ttctaacttattaaatttatcacattgaatagtggaacattttcatatgatacaccatta c.*1620
. . . . . . g.195307
tgtttaagatatatttccaagattggttataatagatggggcatataataaagaagctac c.*1680
. . . . . . g.195367
tattttggaaaatgacattttactatttgccaatgtatattgcaattgatgtgattattt c.*1740
. . . . . . g.195427
ttcttttaaagatttgtttgtgtttatgaaacagccatttattttttaaaaagtgttttg c.*1800
. . . . . . g.195487
aattgtgtcttaatctctccatattcaactattcttcatttacaacaatagtgacaccag c.*1860
. . . . . . g.195547
taattatgagaggctgtcatatatcaaagcagctcaggtgggatcaacatacattggttt c.*1920
. . . . . . g.195607
tgaaatgtttccttagctcggttctcccaaacacataatttctgtttcagcagtacaaag c.*1980
. . . . . . g.195667
gcatgttttaaaatctataacataaagaataaggaatagctttgtatttttgtcattgat c.*2040
. . . . . . g.195727
taaattgcaccagaaatgtttatggaaatattaagaacattttataaaacatacgaaaaa c.*2100
. . . . . . g.195787
gtgattgtgaaggatttttatttgcatgattatagttaagcaaatttcatttcacatttt c.*2160
. . . . . . g.195847
tgtaatgctgtacagcagttcacaaaaaaatgttcattgtagattttgttatgttcaatg c.*2220
. . . . . . g.195907
ccaatgagtctgtaattttacgacctgtctgttctttttttgggtggattacgatgtaaa c.*2280
. . . . . . g.195967
tttttcttttctttctttctttttttttttttttgtgtagaaaaataggtgcaataatga c.*2340
. . . . . . g.196027
tcaaagttttgatgtcttgagtctccatcttaggggattatcttacgtttaagcttaaca c.*2400
. . . . . . g.196087
tttcatgtagtaagatttggagagccacatactttacagtaaaattaagtgtgtataaaa c.*2460
. . . . . . g.196147
cattaattgctaacaattgttagcaaactatttcagtgataatgttcattttgaaaatat c.*2520
. . . . . . g.196207
gtactgtataacattaagaaaatatttaactccctgtaacaagttccattatgaaaatct c.*2580
. . . . . . g.196267
tattcctcagtgaggttatcttgctgcactctgtagcaaatttgtttaatctacattata c.*2640
. . . . . . g.196327
ataaaatttcttgctgcagtgcaacaggaggctttttcagtgatcttcactgtatatgta c.*2700
. . . . . . g.196387
aattacaaatgtggctgtaaaacttattccaggtattaaaggttaaattgctttctatat c.*2760
. . . . . . g.196447
cttcttataacttgtaagtctgatttttaagatttccttttgtccacttgtaagaatgtc c.*2820
. . . . . . g.196507
aggaatttaagaatttgtttaaattaggcatatctctgccatcacatagtattatgtcac c.*2880
. . . . . . g.196567
cataatgaacaattgctatttaaatagataaccaattttcagacacatttttggatttct c.*2940
. . g.196595
gtgaagttgaataaacataaaagctaat c.*2968
(downstream sequence)
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