(used for variant description)
(last modified February 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000283.3 in the PDE6B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009839.1, covering PDE6B transcript NM_000283.3.
(upstream sequence)
. . . . . g.5053
tgggagtccatgcgtgcctggagcagcagcgtctccagggacaggcagccacc c.-1
. . . . . . g.5113
ATGAGCCTCAGTGAGGAGCAGGCCCGGAGCTTTCTGGACCAGAACCCCGATTTTGCCCGC c.60
M S L S E E Q A R S F L D Q N P D F A R p.20
. . . . . . g.5173
CAGTACTTTGGGAAGAAACTGAGCCCTGAGAATGTGGCCGCGGCCTGCGAGGACGGGTGC c.120
Q Y F G K K L S P E N V A A A C E D G C p.40
. . . . . . g.5233
CCGCCGGACTGCGACAGCCTCCGGGACCTCTGCCAGGTGGAGGAGAGCACGGCGCTGCTG c.180
P P D C D S L R D L C Q V E E S T A L L p.60
. . . . . . g.5293
GAGCTGGTGCAGGATATGCAGGAGAGCATCAACATGGAGCGCGTGGTCTTCAAGGTCCTG c.240
E L V Q D M Q E S I N M E R V V F K V L p.80
. . . . . . g.5353
CGGCGCCTCTGCACCCTCCTGCAGGCCGACCGCTGCAGCCTCTTCATGTACCGCCAGCGC c.300
R R L C T L L Q A D R C S L F M Y R Q R p.100
. . . . . . g.5413
AACGGCGTGGCCGAGCTGGCCACCAGGCTTTTCAGCGTGCAGCCGGACAGCGTCCTGGAG c.360
N G V A E L A T R L F S V Q P D S V L E p.120
. . . . . . g.5473
GACTGCCTGGTGCCCCCCGACTCCGAGATCGTCTTCCCACTGGACATCGGGGTCGTGGGC c.420
D C L V P P D S E I V F P L D I G V V G p.140
. . . . | 02 . g.14115
CACGTGGCTCAGACCAAAAAGATGGTGAACGTCGAGGACGTGGCCGAG | TGCCCTCACTTC c.480
H V A Q T K K M V N V E D V A E | C P H F p.160
. . . . . . g.14175
AGCTCATTTGCTGACGAGCTCACTGACTACAAGACAAAGAATATGCTGGCCACACCCATC c.540
S S F A D E L T D Y K T K N M L A T P I p.180
. . . . . . g.14235
ATGAATGGCAAAGACGTCGTGGCGGTGATCATGGCAGTGAACAAGCTCAACGGCCCATTC c.600
M N G K D V V A V I M A V N K L N G P F p.200
. . | 03 . . . . g.15345
TTCACCAGCGAAGACGAAGAT | GTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTG c.660
F T S E D E D | V F L K Y L N F A T L Y L p.220
. . . . . | 04 . g.33287
AAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAG | GTGCTGCTG c.720
K I Y H L S Y L H N C E T R R G Q | V L L p.240
. . . . . . g.33347
TGGTCGGCCAACAAGGTGTTTGAGGAGCTGACGGACATCGAGAGGCAGTTCCACAAGGCC c.780
W S A N K V F E E L T D I E R Q F H K A p.260
. . . . . . g.33407
TTCTACACGGTGCGGGCCTACCTCAACTGCGAGCGGTACTCCGTGGGCCTCCTGGACATG c.840
F Y T V R A Y L N C E R Y S V G L L D M p.280
. | 05 . . . . . g.33554
ACCAAGGAGAAG | GAATTTTTTGACGTGTGGTCTGTGCTGATGGGAGAGTCCCAGCCGTAC c.900
T K E K | E F F D V W S V L M G E S Q P Y p.300
. . | 06. . . . g.34283
TCGGGCCCACGCACGCCTGATGGCCGG | GAAATTGTCTTCTACAAAGTGATCGACTACATC c.960
S G P R T P D G R | E I V F Y K V I D Y I p.320
. . . | 07 . . . g.35394
CTCCACGGCAAGGAGGAGATCAAGGTCATTCC | CACACCCTCAGCCGATCACTGGGCCCTG c.1020
L H G K E E I K V I P | T P S A D H W A L p.340
. . . | 08 . . g.35692
GCCAGCGGCCTTCCAAGCTACGTGGCAGAAAGCGGCTTT | ATTTGTAACATCATGAATGCT c.1080
A S G L P S Y V A E S G F | I C N I M N A p.360
. . | 09. . . . g.36333
TCCGCTGACGAAATGTTCAAATTTCAG | GAAGGGGCCCTGGACGACTCCGGGTGGCTCATC c.1140
S A D E M F K F Q | E G A L D D S G W L I p.380
. . . . . . g.36393
AAGAATGTGCTGTCCATGCCCATCGTCAACAAGAAGGAGGAGATTGTGGGAGTCGCCACA c.1200
K N V L S M P I V N K K E E I V G V A T p.400
. . . . . | 10. g.36780
TTTTACAACAGGAAAGACGGGAAGCCCTTTGACGAACAGGACGAGGTTCTCATGGAG | TCC c.1260
F Y N R K D G K P F D E Q D E V L M E | S p.420
. . . . . . g.36840
CTGACACAGTTCCTGGGCTGGTCAGTGATGAACACCGACACCTACGACAAGATGAACAAG c.1320
L T Q F L G W S V M N T D T Y D K M N K p.440
. . . . . . g.36900
CTGGAGAACCGCAAGGACATCGCACAGGACATGGTCCTTTACCACGTGAAGTGCGACAGG c.1380
L E N R K D I A Q D M V L Y H V K C D R p.460
. . | 11 . . . . g.38417
GACGAGATCCAGCTCATCCTG | CCAACCAGAGCGCGCCTGGGGAAGGAGCCTGCTGACTGC c.1440
D E I Q L I L | P T R A R L G K E P A D C p.480
. . | 12. . . . g.39926
GATGAGGACGAGCTGGGCGAAATCCTG | AAGGAGGAGCTGCCAGGGCCCACCACATTTGAC c.1500
D E D E L G E I L | K E E L P G P T T F D p.500
. . . . . . g.39986
ATCTACGAATTCCACTTCTCTGACCTGGAGTGCACCGAACTGGACCTGGTCAAATGTGGC c.1560
I Y E F H F S D L E C T E L D L V K C G p.520
. . . . . | 13 . g.41566
ATCCAGATGTACTACGAGCTGGGCGTGGTCCGAAAGTTCCAGATCCCCCAGGAG | GTCCTG c.1620
I Q M Y Y E L G V V R K F Q I P Q E | V L p.540
. . . . . . g.41626
GTGCGGTTCCTGTTCTCCATCAGCAAAGGGTACCGGAGAATCACCTACCACAACTGGCGC c.1680
V R F L F S I S K G Y R R I T Y H N W R p.560
. . . . | 14 . . g.41953
CACGGCTTCAACGTGGCCCAGACGATGTTCACGCTGCTCATG | ACCGGCAAACTGAAGAGC c.1740
H G F N V A Q T M F T L L M | T G K L K S p.580
. . . . . . g.42013
TACTACACGGACCTGGAGGCCTTCGCCATGGTGACAGCCGGCCTGTGCCATGACATCGAC c.1800
Y Y T D L E A F A M V T A G L C H D I D p.600
. . . | 15 . . . g.42554
CACCGCGGCACCAACAACCTGTACCAGATGAA | GTCCCAGAACCCCTTGGCTAAGCTCCAC c.1860
H R G T N N L Y Q M K | S Q N P L A K L H p.620
. . . . . . g.42614
GGCTCCTCGATTTTGGAGCGGCACCACCTGGAGTTTGGGAAGTTCCTGCTCTCGGAGGAG c.1920
G S S I L E R H H L E F G K F L L S E E p.640
| 16 . . . . . . g.43256
| ACCCTGAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGTGATCCACCTGATG c.1980
| T L N I Y Q N L N R R Q H E H V I H L M p.660
. . . . | 17 . . g.43559
GACATCGCCATCATCGCCACGGACCTGGCCCTGTACTTCAA | GAAGAGAGCGATGTTTCAG c.2040
D I A I I A T D L A L Y F K | K R A M F Q p.680
. . . . . . g.43619
AAGATCGTGGATGAGTCCAAGAACTACCAGGACAAGAAGAGCTGGGTGGAGTACCTGTCC c.2100
K I V D E S K N Y Q D K K S W V E Y L S p.700
. . | 18 . . . g.44338
CTGGAGACGACCCGGAAGGAGATCGTCAT | GGCCATGATGATGACAGCCTGCGACCTGTCT c.2160
L E T T R K E I V M | A M M M T A C D L S p.720
. . . | 19 . . . g.44708
GCCATCACCAAGCCCTGGGAAGTCCAGAGCAAG | GTCGCACTTCTCGTGGCTGCTGAGTTC c.2220
A I T K P W E V Q S K | V A L L V A A E F p.740
. . . . | 20 . g.45969
TGGGAGCAAGGTGACTTGGAAAGGACAGTCTTGGATCAGCAGCCCATT | CCTATGATGGAC c.2280
W E Q G D L E R T V L D Q Q P I | P M M D p.760
. . . . . . g.46029
CGGAACAAGGCGGCCGAGCTCCCCAAGCTGCAAGTGGGCTTCATCGACTTCGTGTGCACA c.2340
R N K A A E L P K L Q V G F I D F V C T p.780
. | 21 . . . . . g.47330
TTCGTGTACAAG | GAGTTCTCTCGTTTCCACGAAGAGATCCTGCCCATGTTCGACCGACTG c.2400
F V Y K | E F S R F H E E I L P M F D R L p.800
. . . . . . g.47390
CAGAACAATAGGAAAGAGTGGAAGGCGCTGGCTGATGAGTATGAGGCCAAAGTGAAGGCT c.2460
Q N N R K E W K A L A D E Y E A K V K A p.820
. . . . | 22 . . g.49489
CTGGAGGAGAAGGAGGAGGAGGAGAGGGTGGCAGCCAAGAAAG | TAGGCACAGAAATTTGC c.2520
L E E K E E E E R V A A K K V | G T E I C p.840
. . . . g.49534
AATGGCGGCCCAGCACCCAAGTCTTCAACCTGCTGTATCCTGTGA c.2565
N G G P A P K S S T C C I L X p.854
. . . . . . g.49594
gcactggtcccatggggaccctatggctccctcaatcttcacccactaggatttgggttc c.*60
. . . . . . g.49654
tgcctgtggctatttgctacaagaggttaggaagcccaagaaaatgactgaagatcattc c.*120
. . . . . . g.49714
tggatattttaatttttttttttttttttttttgagatggagtcttgctctgtcacccag c.*180
. . . . . . g.49774
gctggagtgccgtggcacgatctcagctcactgcaacctccacctcccaggttcaagcga c.*240
. . . . . . g.49834
ttctcgtgcctcagcctcctgagtagctgggactacaggcgcccaccaccacacatggct c.*300
. . . . . . g.49894
aatttttgtattttcagtacagatggggtttcaccatattgggcaggctggtctcgaact c.*360
. . . . . . g.49954
cctgacctcaggtgatcacccgcctcagcttcctgaagtgctgggattacaggcatgagc c.*420
. . . . . . g.50014
caccacgcccagcctgtttttataaactgaagccaactgtgaataaactgtagcctacat c.*480
. . . . . . g.50074
tactcatccatttttggatagttaccactgggagacctttgaaaagggtccatgaactct c.*540
. . . . . . g.50134
gaaatcactgagaacatttgcagccacacatgtacatatgtgtacacaggtagacagatg c.*600
. . . . . . g.50194
gacacaggccgtttctcatccagtttaggaaaacacacatgctcaggaattcagaataaa c.*660
. . . . . . g.50254
ataaacagaaaactacttgcccattatctgtggtaaaatgatagcggaagccacactaca c.*720
. . . . . . g.50314
tttgacccatcagaaaattctgccagagaggtcaaggccatgagtaaagcggccatccaa c.*780
g.50319
cttca c.*785
(downstream sequence)
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