(used for variant description)
(last modified November 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_006204.3 in the PDE6C gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016752.1, covering PDE6C transcript NM_006204.3.
(upstream sequence)
. g.5018
ctttggaagtcctatgag c.-121
. . . . . . g.5078
ggaccatttacggtttcctcagtaatttccaccaggatgaatttccttctcatcactctg c.-61
. . . . . . g.5138
cctcaggtagtgctctgaaggtcgtcctttctgaacaaacgcagcaaagcaagccacacc c.-1
. . . . . . g.5198
ATGGGTGAGATCAACCAAGTTGCCGTGGAGAAATACCTGGAGGAGAACCCTCAGTTTGCC c.60
M G E I N Q V A V E K Y L E E N P Q F A p.20
. . . . . . g.5258
AAGGAGTACTTTGACAGGAAGTTGCGGGTGGAGGTGCTGGGAGAAATCTTCAAGAACAGC c.120
K E Y F D R K L R V E V L G E I F K N S p.40
. . . . . . g.5318
CAGGTGCCAGTCCAGTCCAGCATGTCCTTCTCTGAGCTGACCCAGGTGGAGGAGTCAGCC c.180
Q V P V Q S S M S F S E L T Q V E E S A p.60
. . . . . . g.5378
CTGTGCTTGGAGCTGCTGTGGACCGTGCAGGAGGAGGGGGGCACCCCAGAGCAGGGGGTT c.240
L C L E L L W T V Q E E G G T P E Q G V p.80
. . . . . . g.5438
CACAGGGCCCTGCAGAGGCTGGCCCACCTGCTCCAGGCTGACCGCTGCAGCATGTTCCTG c.300
H R A L Q R L A H L L Q A D R C S M F L p.100
. . . . . . g.5498
TGCCGGTCCCGGAACGGCATACCTGAGGTGGCCTCTAGGTTGCTGGATGTCACCCCCACC c.360
C R S R N G I P E V A S R L L D V T P T p.120
. . . . . . g.5558
TCCAAGTTTGAGGACAACCTGGTGGGCCCTGACAAAGAAGTTGTGTTTCCATTGGACATT c.420
S K F E D N L V G P D K E V V F P L D I p.140
. . . . . . g.5618
GGGATAGTGGGTTGGGCTGCTCACACGAAGAAAACTCATAATGTCCCAGATGTGAAAAAG c.480
G I V G W A A H T K K T H N V P D V K K p.160
| 02 . . . . . . g.13104
| AACAGCCATTTTTCTGACTTCATGGACAAGCAAACTGGGTATGTCACTAAGAACCTGCTG c.540
| N S H F S D F M D K Q T G Y V T K N L L p.180
. . . . . . g.13164
GCAACCCCGATCGTGGTGGGCAAGGAGGTTCTTGCTGTGATCATGGCAGTTAACAAAGTA c.600
A T P I V V G K E V L A V I M A V N K V p.200
. . . | 03 . . . g.13330
AATGCATCTGAATTTTCCAAACAGGATGAAGAG | GTCTTTTCCAAATACCTCAACTTTGTG c.660
N A S E F S K Q D E E | V F S K Y L N F V p.220
. . . . . . g.13390
TCTATCATCCTAAGGCTTCATCACACCAGCTACATGTACAATATTGAATCCCGAAGAAGC c.720
S I I L R L H H T S Y M Y N I E S R R S p.240
| 04 . . . . . . g.14401
CAG | ATCCTTATGTGGTCAGCCAATAAAGTATTTGAAGAACTCACAGATGTTGAGCGACAG c.780
Q | I L M W S A N K V F E E L T D V E R Q p.260
. . . . . . g.14461
TTTCACAAAGCGCTCTACACGGTTAGATCATATCTGAACTGTGAACGATACTCCATTGGA c.840
F H K A L Y T V R S Y L N C E R Y S I G p.280
. . | 05 . . . . g.18023
CTGCTGGACATGACCAAGGAGAAG | GAATTCTACGATGAATGGCCAATCAAGCTTGGAGAA c.900
L L D M T K E K | E F Y D E W P I K L G E p.300
. . . | 06 . . g.19073
GTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGG | GAAGTCAACTTTTATAAAATC c.960
V E P Y K G P K T P D G R | E V N F Y K I p.320
. . . . | 07 . . g.19233
ATTGATTACATTTTACATGGAAAAGAAGAGATCAAAGTGATTCC | GACGCCTCCTGCAGAC c.1020
I D Y I L H G K E E I K V I P | T P P A D p.340
. . . . . | 08 . g.21679
CACTGGACACTCATTAGTGGGTTGCCAACATATGTTGCTGAAAATGGATTT | ATCTGTAAC c.1080
H W T L I S G L P T Y V A E N G F | I C N p.360
. . . | 09 . . g.27191
ATGATGAATGCCCCTGCGGATGAATACTTCACATTTCAG | AAAGGACCTGTAGACGAAACT c.1140
M M N A P A D E Y F T F Q | K G P V D E T p.380
. . . . . . g.27251
GGTTGGGTCATTAAGAATGTTTTGTCCCTGCCTATTGTCAACAAGAAAGAAGATATTGTG c.1200
G W V I K N V L S L P I V N K K E D I V p.400
. . . . . . g.27311
GGAGTGGCTACATTTTACAACAGGAAGGATGGAAAACCTTTCGATGAGCATGATGAATAC c.1260
G V A T F Y N R K D G K P F D E H D E Y p.420
| 10 . . . . . g.27960
ATTACCGAG | ACTCTCACACAATTTCTTGGATGGTCTCTTTTAAATACTGACACCTACGAT c.1320
I T E | T L T Q F L G W S L L N T D T Y D p.440
. . . . . . g.28020
AAGATGAATAAGCTAGAAAACAGAAAGGACATTGCTCAGGAAATGCTCATGAACCAAACC c.1380
K M N K L E N R K D I A Q E M L M N Q T p.460
. . . | 11 . . . g.29434
AAAGCCACTCCTGAAGAAATTAAGTCCATTTTG | AAATTTCAAGAGAAGTTAAATGTTGAT c.1440
K A T P E E I K S I L | K F Q E K L N V D p.480
. . . . | 12 . . g.32500
GTAATTGACGACTGTGAAGAAAAACAACTTGTTGCAATTTTG | AAAGAGGACTTGCCAGAC c.1500
V I D D C E E K Q L V A I L | K E D L P D p.500
. . . . . . g.32560
CCACGCTCAGCAGAACTGTACGAATTCCGCTTCAGTGACTTCCCCCTTACAGAGCACGGA c.1560
P R S A E L Y E F R F S D F P L T E H G p.520
. . . . . . g.32620
TTGATTAAATGTGGAATACGACTGTTTTTTGAAATAAATGTGGTGGAGAAATTCAAAGTA c.1620
L I K C G I R L F F E I N V V E K F K V p.540
| 13 . . . . . g.32913
CCTGTAGAG | GTTCTTACCAGATGGATGTACACTGTGAGGAAAGGGTACCGAGCTGTCACT c.1680
P V E | V L T R W M Y T V R K G Y R A V T p.560
. . . . . | 14. g.33335
TACCACAATTGGCGGCATGGGTTCAACGTGGGGCAGACCATGTTTACTTTGCTGATG | ACA c.1740
Y H N W R H G F N V G Q T M F T L L M | T p.580
. . . . . . g.33395
GGAAGATTAAAGAAGTACTACACAGATCTCGAAGCCTTTGCCATGCTTGCTGCTGCTTTC c.1800
G R L K K Y Y T D L E A F A M L A A A F p.600
. . . . | 15. . g.38385
TGCCATGATATTGACCACAGAGGCACCAATAATTTGTACCAGATGAA | ATCCACGTCTCCA c.1860
C H D I D H R G T N N L Y Q M K | S T S P p.620
. . . . . . g.38445
TTAGCAAGACTTCATGGTTCTTCTATTTTGGAGAGGCACCACCTGGAGTACAGTAAGACT c.1920
L A R L H G S S I L E R H H L E Y S K T p.640
. | 16 . . . . . g.48217
CTGTTGCAGGATGAG | AGTTTAAACATCTTCCAGAACCTAAATAAGCGGCAGTTTGAAACA c.1980
L L Q D E | S L N I F Q N L N K R Q F E T p.660
. . . . . | 17 . g.51317
GTTATTCATTTGTTCGAGGTCGCAATAATAGCAACTGACCTGGCTTTATATTTCAA | GAAG c.2040
V I H L F E V A I I A T D L A L Y F K | K p.680
. . . . . . g.51377
AGGACCATGTTTCAAAAAATTGTTGATGCCTGTGAACAAATGCAAACGGAAGAAGAAGCC c.2100
R T M F Q K I V D A C E Q M Q T E E E A p.700
. . . . | 18 . . g.51532
ATCAAATATGTAACTGTTGATCCAACCAAGAAAGAGATTATCAT | GGCAATGATGATGACG c.2160
I K Y V T V D P T K K E I I M | A M M M T p.720
. . . . | 19 . g.54483
GCATGTGACTTGTCTGCTATTACCAAGCCCTGGGAGGTGCAAAGTCAG | GTAGCACTTATG c.2220
A C D L S A I T K P W E V Q S Q | V A L M p.740
. . . . . . g.54543
GTTGCAAATGAATTTTGGGAACAAGGAGATCTGGAGAGAACAGTGTTGCAGCAACAACCC c.2280
V A N E F W E Q G D L E R T V L Q Q Q P p.760
| 20 . . . . . . g.55029
ATT | CCTATGATGGACAGAAACAAAAGAGATGAATTACCTAAACTTCAAGTTGGATTTATT c.2340
I | P M M D R N K R D E L P K L Q V G F I p.780
. . | 21. . . . g.55473
GATTTTGTTTGTACTTTTGTATATAAG | GAGTTCTCACGGTTTCACAAAGAAATCACACCT c.2400
D F V C T F V Y K | E F S R F H K E I T P p.800
. . . . . . g.55533
ATGCTGAGTGGTCTTCAGAATAACAGAGTAGAATGGAAATCACTAGCTGATGAGTATGAT c.2460
M L S G L Q N N R V E W K S L A D E Y D p.820
. . . . . | 22 g.57774
GCAAAGATGAAGGTCATTGAAGAGGAGGCAAAAAAGCAAGAAGGAGGAGCCGAAAAAG | CT c.2520
A K M K V I E E E A K K Q E G G A E K A | p.840
. . . . . g.57831
GCTGAAGATTCAGGAGGTGGTGATGACAAAAAGTCCAAAACATGTTTAATGTTGTAA c.2577
A E D S G G G D D K K S K T C L M L X p.858
. . . . . . g.57891
tattatctaactggtctaaacttcaaatatcattttacctttgaagaaaaccagaaaaca c.*60
. . . . . . g.57951
ttcaaaagaacttcaacaaatcatcacgtaacaggatcttcagaaaaactaccctgtgac c.*120
. . . . . . g.58011
tatgaagaaaatatatattgctagcccaaaaatcccaggggcaaaataaagttcaacaaa c.*180
. . . . . . g.58071
agtgcaaaatatgacaaaaataggtacatttttggtgccaatttattttaaattaaaaaa c.*240
. g.58086
tatgcaatcctgaaa c.*255
(downstream sequence)
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