(used for variant description)
(last modified February 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000440.2 in the PDE6A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009102.1, covering PDE6A transcript NM_000440.2.
(upstream sequence)
. . . . . . g.5060
agtatgttttgcagacaagacccagagaagtccagactggacttgttgcagactgcaaaa c.-61
. . . . . . g.5120
ctgccattggaaggcctccgtcccagtccttctacagagtagccagtgggattcccagcc c.-1
. . . . . . g.5180
ATGGGCGAGGTGACAGCAGAGGAGGTGGAGAAGTTCCTGGACTCGAATATTGGCTTTGCC c.60
M G E V T A E E V E K F L D S N I G F A p.20
. . . . . . g.5240
AAACAGTACTACAACCTCCACTACCGGGCCAAGCTCATCTCCGACCTCCTTGGGGCCAAG c.120
K Q Y Y N L H Y R A K L I S D L L G A K p.40
. . . . . . g.5300
GAGGCTGCCGTGGACTTCAGCAACTACCACTCCCCGAGCAGCATGGAGGAGAGCGAAATC c.180
E A A V D F S N Y H S P S S M E E S E I p.60
. . . . . . g.5360
ATCTTTGATCTCCTGCGGGACTTTCAGGAGAATTTACAGACAGAGAAATGCATCTTCAAT c.240
I F D L L R D F Q E N L Q T E K C I F N p.80
. . . . . . g.5420
GTCATGAAGAAGCTGTGCTTCCTCCTGCAGGCAGACCGCATGAGCCTGTTCATGTACCGG c.300
V M K K L C F L L Q A D R M S L F M Y R p.100
. . . . . . g.5480
ACCCGCAATGGCATCGCAGAGCTGGCCACCAGGCTTTTCAATGTCCACAAGGATGCTGTC c.360
T R N G I A E L A T R L F N V H K D A V p.120
. . . . . . g.5540
CTCGAGGACTGCCTGGTGATGCCCGACCAAGAGATCGTCTTCCCTTTGGACATGGGCATC c.420
L E D C L V M P D Q E I V F P L D M G I p.140
. . . . . | 02 . g.15081
GTGGGCCATGTCGCACACTCTAAGAAGATTGCTAACGTCCCCAACACAGAGGAG | GATGAG c.480
V G H V A H S K K I A N V P N T E E | D E p.160
. . . . . . g.15141
CATTTCTGTGACTTTGTGGACATCCTCACAGAGTACAAGACCAAGAACATCTTGGCTTCC c.540
H F C D F V D I L T E Y K T K N I L A S p.180
. . . . . . g.15201
CCCATAATGAATGGGAAGGATGTGGTGGCCATAATCATGGCTGTGAATAAAGTGGATGGA c.600
P I M N G K D V V A I I M A V N K V D G p.200
. . | 03. . . . g.15807
TCCCACTTCACCAAGAGAGATGAAGAG | ATTCTTCTCAAGTACCTCAATTTTGCAAATCTA c.660
S H F T K R D E E | I L L K Y L N F A N L p.220
. . . . . | 04. g.18628
ATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAG | ATA c.720
I M K V Y H L S Y L H N C E T R R G Q | I p.240
. . . . . . g.18688
CTGCTGTGGTCTGGGAGCAAAGTCTTTGAAGAACTTACGGACATCGAACGACAGTTCCAC c.780
L L W S G S K V F E E L T D I E R Q F H p.260
. . . . . . g.18748
AAAGCCCTGTACACAGTCCGTGCTTTCCTCAACTGTGACAGATACTCTGTGGGTCTCTTA c.840
K A L Y T V R A F L N C D R Y S V G L L p.280
. | 05 . . . . g.28126
GACATGACCAAGCAGAAG | GAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCA c.900
D M T K Q K | E F F D V W P V L M G E V P p.300
. . . | 06 . . . g.34813
CCTTACTCTGGTCCCAGGACTCCGGATGGAAGA | GAAATTAACTTTTACAAGGTCATTGAC c.960
P Y S G P R T P D G R | E I N F Y K V I D p.320
. . . | 07 . . g.42437
TACATCCTGCATGGCAAAGAGGACATCAAAGTCATCCC | GAATCCACCTCCTGACCATTGG c.1020
Y I L H G K E D I K V I P | N P P P D H W p.340
. . . . | 08 . . g.46113
GCTTTAGTAAGCGGTCTCCCAGCTTATGTTGCCCAGAATGGCCTG | ATTTGCAACATCATG c.1080
A L V S G L P A Y V A Q N G L | I C N I M p.360
. . . | 09 . . . g.50296
AATGCGCCTGCGGAGGACTTTTTTGCATTTCAG | AAAGAACCTCTGGATGAGTCTGGATGG c.1140
N A P A E D F F A F Q | K E P L D E S G W p.380
. . . . . . g.50356
ATGATTAAAAATGTGCTTTCAATGCCGATTGTGAACAAGAAGGAAGAAATTGTTGGAGTG c.1200
M I K N V L S M P I V N K K E E I V G V p.400
. . . . . . g.50416
GCCACATTTTACAATCGTAAAGATGGGAAGCCCTTTGATGAAATGGATGAGACGCTCATG c.1260
A T F Y N R K D G K P F D E M D E T L M p.420
| 10 . . . . . . g.51344
GAG | TCTTTGACTCAATTTCTGGGCTGGTCTGTCTTAAATCCTGACACCTATGAGTCAATG c.1320
E | S L T Q F L G W S V L N P D T Y E S M p.440
. . . . . . g.51404
AATAAACTTGAAAATAGGAAGGATATTTTCCAGGACATAGTAAAATATCATGTGAAGTGT c.1380
N K L E N R K D I F Q D I V K Y H V K C p.460
. . | 11. . . . g.53050
GACAATGAAGAAATTCAGAAAATCTTG | AAAACCAGAGAGGTGTATGGGAAGGAGCCATGG c.1440
D N E E I Q K I L | K T R E V Y G K E P W p.480
. . . | 12 . . . g.53318
GAGTGTGAGGAAGAGGAGCTGGCTGAGATCCTG | CAAGCGGAGCTGCCAGATGCAGATAAA c.1500
E C E E E E L A E I L | Q A E L P D A D K p.500
. . . . . . g.53378
TACGAAATTAATAAATTTCACTTCAGTGACTTACCCCTAACAGAACTGGAGCTGGTAAAA c.1560
Y E I N K F H F S D L P L T E L E L V K p.520
. . . . . . g.53438
TGTGGAATACAGATGTATTATGAGCTCAAAGTGGTGGATAAATTTCACATTCCACAAGAG c.1620
C G I Q M Y Y E L K V V D K F H I P Q E p.540
| 13 . . . . . . g.54563
| GCCCTGGTGCGGTTCATGTACTCCCTGAGTAAGGGCTACCGCAAGATCACCTACCACAAC c.1680
| A L V R F M Y S L S K G Y R K I T Y H N p.560
. . . . | 14 . g.63431
TGGCGGCACGGCTTCAACGTGGGGCAGACCATGTTCTCCCTGCTGGTG | ACGGGAAAGCTG c.1740
W R H G F N V G Q T M F S L L V | T G K L p.580
. . . . . . g.63491
AAGCGCTACTTCACGGACCTAGAGGCCTTGGCCATGGTCACTGCTGCTTTCTGCCATGAC c.1800
K R Y F T D L E A L A M V T A A F C H D p.600
. . . | 15 . . g.64948
ATTGACCACAGAGGCACCAATAACCTCTACCAGATGAA | ATCCCAGAACCCACTGGCCAAG c.1860
I D H R G T N N L Y Q M K | S Q N P L A K p.620
. . . . . . g.65008
CTCCATGGGTCCTCTATCTTGGAAAGACACCACTTGGAGTTTGGCAAAACACTGCTCAGA c.1920
L H G S S I L E R H H L E F G K T L L R p.640
| 16 . . . . . . g.65268
GACGAG | AGCCTGAATATCTTTCAAAACCTCAATCGTCGACAGCATGAGCATGCCATCCAC c.1980
D E | S L N I F Q N L N R R Q H E H A I H p.660
. . . . | 17. . g.66270
ATGATGGACATTGCAATCATTGCCACAGACCTCGCCCTGTATTTCAA | GAAGAGGACGATG c.2040
M M D I A I I A T D L A L Y F K | K R T M p.680
. . . . . . g.66330
TTCCAAAAGATCGTGGATCAGTCTAAGACATATGAGAGTGAACAGGAGTGGACACAGTAC c.2100
F Q K I V D Q S K T Y E S E Q E W T Q Y p.700
. . . | 18 . . . g.81660
ATGATGCTGGAGCAGACACGGAAGGAAATCGTTAT | GGCCATGATGATGACCGCCTGTGAT c.2160
M M L E Q T R K E I V M | A M M M T A C D p.720
. . . | 19 . . g.82015
CTCTCAGCCATCACCAAACCCTGGGAGGTGCAGAGCCAG | GTAGCTCTGCTGGTGGCTGCT c.2220
L S A I T K P W E V Q S Q | V A L L V A A p.740
. . . . . | 20 . g.83546
GAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATT | CCCATG c.2280
E F W E Q G D L E R T V L Q Q N P I | P M p.760
. . . . . . g.83606
ATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTT c.2340
M D R N K A D E L P K L Q V G F I D F V p.780
. | 21 . . . . g.86569
TGCACCTTCGTCTACAAG | GAATTCTCCCGTTTCCACGAGGAGATCACCCCAATGTTGGAC c.2400
C T F V Y K | E F S R F H E E I T P M L D p.800
. . . . . . g.86629
GGGATCACCAACAATCGCAAGGAGTGGAAGGCGCTTGCTGATGAGTACGATGCCAAGATG c.2460
G I T N N R K E W K A L A D E Y D A K M p.820
. . . . | 22 . . g.88836
AAGGTGCAGGAGGAGAAGAAGCAGAAACAGCAGTCGGCCAAGTCAG | CAGCCGCAGGAAAT c.2520
K V Q E E K K Q K Q Q S A K S A | A A G N p.840
. . . . . . g.88896
CAGCCGGGGGGAAACCCCAGCCCAGGGGGTGCAACTACATCCAAGTCCTGCTGCATCCAG c.2580
Q P G G N P S P G G A T T S K S C C I Q p.860
g.88899
TAA c.2583
X p.860
. . . . . . g.88959
caccactggggatgtgctggctggacggcaccaccctttcctgggaagagatgactcaag c.*60
. . . . . . g.89019
ccagtggaagaccacacaccttgagaagtagaagagtcataggatttgaaagctgttaga c.*120
. . . . . . g.89079
gaatttagcttccaggactgttcaatcttttggcttccctgggccacattggaagaattg c.*180
. . . . . . g.89139
tcttgggtcacacataaaatacagtaacactaatgatagctgttgaacttaaaaaaaaaa c.*240
. . . . . . g.89199
atcgccaaaaaaaaaaatttcataatgttttaagaaagtttatgaatttgtgttgggccg c.*300
. . . . . . g.89259
cattcaaagccgtcctgggctgcatgtggcccacgggccgtgggttgaacaagcttggct c.*360
. . . . . . g.89319
tataccttatccagtggcttttaaacattcttttagtcttgagaactgcctattgagcta c.*420
. . . . . . g.89379
aaaccaatattctagctttcatagacatcagttaaacatttaattacatttaattaatgc c.*480
. . . . . . g.89439
cagattcactggcttgcttagaatcatttttgttcttatactttcagttaatgtattgta c.*540
. . . . . . g.89499
aaaattttcaatcattttcaaaagtagagaattgtacgttgaatccccacatacccatca c.*600
. . . . . . g.89559
cccagattccaatatcaagattttgctacatgcatttcgtctgtcctttttacattttct c.*660
. . . . . . g.89619
tttcaattttttttcttacctgaagtgtttaaaggcaaatcctggccaggcgtggtggct c.*720
. . . . . . g.89679
cacacctgtaatcccagcacttcaggaggctgaggtgggcagactgcatgagcccaggag c.*780
. . . . . . g.89739
tctgagaccaacctgagcaaaatggcaaaaccctgtctctacaaaaaatacaaaaattag c.*840
. . . . . . g.89799
cactcacctgtagtctcagctacctgggaggcagaggtgagaggatctcttgaacccagg c.*900
. . . . . . g.89859
aggcggaagttgcagtgagctgagatcatgctactgcactccagcttgggcgaccgagcg c.*960
. . . . . . g.89919
agactctgactcaaacaaaagcaaaagaaaaggcaaatcccaaacatatcatttcacacc c.*1020
. . . . . . g.89979
tctactatctcatctttaaagaaataagtatgttttctaacataaccacatcactggccc c.*1080
. . . . . . g.90039
atgcaaccaatgcctgcctaatacccagctgtgatctatgctttgatgggctgcacagac c.*1140
. . . . . . g.90099
cccaagcttcagcaaaggacttgggaccccaccagctttgagtgctgttgacagaccctt c.*1200
. . . . . . g.90159
agtatcaaccccatcaggtgttactgcagccttccccagggtggcctacacccaatgact c.*1260
. . . . . . g.90219
gatccatgccaggtggagaggcctggccatcttggctgagcatgggataactgtgcaggg c.*1320
. . . . . . g.90279
ctgttccagctccacgactcctcgtggggtccactaaggctgtcgctgggctcacatccc c.*1380
. . . . . . g.90339
aactcgacttctccctctgcccactcctatttccttcccttccccaagcatcggtcccca c.*1440
. . . . . . g.90399
gggcactgcttaataagcatcctgcagactaagtccattttagagtctgctttctgggac c.*1500
. . . . . . g.90459
acccaacttgtgatgccagcccttaatcaaccttccttcattctcatgaacgttttcaat c.*1560
. . . . . . g.90519
ggttggcttgcctgaatctgatccaaacaaattcacatattgaatttagttgtttctttt c.*1620
. . . . . . g.90579
tgttggtttttagaaaaaagaagatgtactttttattcttggatttttcattgatttcac c.*1680
. . . . . . g.90639
agagtataaattaagtcagattattctcaattccagaacttctgtttcttaaattagcag c.*1740
. . . . . . g.90699
gcattctgttggtttaaaaagatagatgttggccgggcgcggtggctcacgcctgtaatt c.*1800
. . . . . . g.90759
ccagcactttgggaggccaaggtgggtggatcacctgaggtcaggagttcaagaccagcc c.*1860
. . . . . . g.90819
tggccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggtgtggtgg c.*1920
. . . . . . g.90879
tgtgcacctgtaatcccagctactcaggaggctgaggcaggagaatcgcttgaacctggg c.*1980
. . . . . . g.90939
aggcgaaggttgcagtgagctgagatcatgccactgcactccagcctgggcaacaagagc c.*2040
. . . . . . g.90999
aagactccgtctcaaaaaaaaaaaaaagaaaaaaaaaagatgtggcagatagaatttctc c.*2100
. . . . . . g.91059
tctttctctatctttcatgacgaggtctcactctgtcgcccaggctggagtgcagtggta c.*2160
. . . . . . g.91119
tgaccatagctcactggagccccagctgcccgggctcaagcaatcctccatctcagctta c.*2220
. . . . . . g.91179
ccaagcagcggtgaccacaggcatgcaccaccatgcccagctaattttttaaaacctatc c.*2280
. . . . . . g.91239
tttgtagacatggggtctcattctgttgcccaggctggcctcaaactcctgacttcaagc c.*2340
. . . . . . g.91299
aatcctcctgcctcagcctcccaaagtgttgggattacaggcgtgagccactgcacctgg c.*2400
. . . . . . g.91359
ccaggacttatttcttttaaaccgaatctaagtatgttctggcaagtatgcaatacctag c.*2460
. . . . . . g.91419
cggaatgcactggcctgatcagcattcataccatagtaactgatgttgaaaacagcacaa c.*2520
. . . . . . g.91479
ataaaccagaagttgaaaatggcaataacatgctaaaaatttgcaagtcaatttgttaca c.*2580
. . . . . . g.91539
cttgtccaaatcttgattttttttccttctctatcgttccccccccaccaccagctttat c.*2640
. . . . . . g.91599
ggaggtataattagcaaataaaaagtatacatatttaaggtatacactgtgatgttttga c.*2700
. . . . . . g.91659
tatacattgtgaaatggttaccataattaagctaattaatatatccatcacctcacatag c.*2760
. . . . . . g.91719
ccatggttaagtttctgaagtctcttttaatctacaaagtactccttccttttttccatt c.*2820
. . . . . . g.91779
gtcatcaccttgcagaaacagagtcagttttcccacattctgtatttatctgtttgtttc c.*2880
. . . . . g.91838
tttgtggccgcatgtaacacattcctctgtctcattctaataaatggacattagctcta c.*2939
(downstream sequence)
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