(used for variant description)
(last modified July 31, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_019098.4 in the CNGB3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016980.1, covering CNGB3 transcript NM_019098.4.
(upstream sequence)
. . . . g.5048
aaggcacagtcataaatacagagggttttcagaaccacctcagagaag c.-1
. . . . . . g.5108
ATGTTTAAATCGCTGACAAAAGTCAACAAGGTGAAGCCTATAGGAGAGAACAATGAGAAT c.60
M F K S L T K V N K V K P I G E N N E N p.20
. . . . . . g.5168
GAACAAAGTTCTCGTCGGAATGAAGAAGGCTCTCACCCAAGTAATCAGTCTCAGCAAACC c.120
E Q S S R R N E E G S H P S N Q S Q Q T p.40
| 02 . . . . . g.8990
ACAGCACAG | GAAGAAAACAAAGGTGAAGAGAAATCTCTCAAAACCAAGTCAACTCCAGTC c.180
T A Q | E E N K G E E K S L K T K S T P V p.60
. . . | 03 . . . g.22047
ACGTCTGAAGAGCCACACACCAACATACAAG | ACAAACTCTCCAAGAAAAATTCCTCTGGA c.240
T S E E P H T N I Q D | K L S K K N S S G p.80
. . . . . . g.22107
GATCTGACCACAAACCCTGACCCTCAAAATGCAGCAGAACCAACTGGAACAGTGCCAGAG c.300
D L T T N P D P Q N A A E P T G T V P E p.100
. . . | 04 . . g.77599
CAGAAGGAAATGGACCCCGGGAAAGAAGGTCCAAACAG | CCCACAAAACAAACCGCCTGCA c.360
Q K E M D P G K E G P N S | P Q N K P P A p.120
. . . . . . g.77659
GCTCCTGTTATAAATGAGTATGCCGATGCCCAGCTACACAACCTGGTGAAAAGAATGCGT c.420
A P V I N E Y A D A Q L H N L V K R M R p.140
. . . . . . g.77719
CAAAGAACAGCCCTCTACAAGAAAAAGTTGGTAGAGGGAGATCTCTCCTCACCCGAAGCC c.480
Q R T A L Y K K K L V E G D L S S P E A p.160
. | 05 . . . . . g.80554
AGCCCACAAACTG | CAAAGCCCACGGCTGTACCACCAGTAAAAGAAAGCGATGATAAGCCA c.540
S P Q T A | K P T A V P P V K E S D D K P p.180
. . . . . . g.80614
ACAGAACATTACTACAGGCTGTTGTGGTTCAAAGTCAAAAAGATGCCTTTAACAGAGTAC c.600
T E H Y Y R L L W F K V K K M P L T E Y p.200
. . . . | 06 . . g.81559
TTAAAGCGAATTAAACTTCCAAACAGCATAGATTCATACACAG | ATCGACTCTATCTCCTG c.660
L K R I K L P N S I D S Y T D | R L Y L L p.220
. . . . . . g.81619
TGGCTCTTGCTTGTCACTCTTGCCTATAACTGGAACTGCTGTTTTATACCACTGCGCCTC c.720
W L L L V T L A Y N W N C C F I P L R L p.240
. . . . . . g.81679
GTCTTCCCATATCAAACCGCAGACAACATACACTACTGGCTTATTGCGGACATCATATGT c.780
V F P Y Q T A D N I H Y W L I A D I I C p.260
. . . . . . g.81739
GATATCATCTACCTTTATGATATGCTATTTATCCAGCCCAGACTCCAGTTTGTAAGAGGA c.840
D I I Y L Y D M L F I Q P R L Q F V R G p.280
. | 07 . . . . . g.94661
GGAGACATAATA | GTGGATTCAAATGAGCTAAGGAAACACTACAGGACTTCTACAAAATTT c.900
G D I I | V D S N E L R K H Y R T S T K F p.300
| 08 . . . . . . g.100845
CAG | TTGGATGTCGCATCAATAATACCATTTGATATTTGCTACCTCTTCTTTGGGTTTAAT c.960
Q | L D V A S I I P F D I C Y L F F G F N p.320
. . . | 09 . . . g.104019
CCAATGTTTAGAGCAAATAGGATGTTAAAG | TACACTTCATTTTTTGAATTTAATCATCAC c.1020
P M F R A N R M L K | Y T S F F E F N H H p.340
. . . | 10 . . . g.104827
CTAGAGTCTATAATGGACAAAGCATATATCTACAG | AGTTATTCGAACAACTGGATACTTG c.1080
L E S I M D K A Y I Y R | V I R T T G Y L p.360
. . . . . . g.104887
CTGTTTATTCTGCACATTAATGCCTGTGTTTATTACTGGGCTTCAAACTATGAAGGAATT c.1140
L F I L H I N A C V Y Y W A S N Y E G I p.380
. . . | 11 . . g.115804
GGCACTACTAGATGGGTGTATGATGGGGAAGGAAACGA | GTATCTGAGATGTTATTATTGG c.1200
G T T R W V Y D G E G N E | Y L R C Y Y W p.400
. . . . . . g.115864
GCAGTTCGAACTTTAATTACCATTGGTGGCCTTCCAGAACCACAAACTTTATTTGAAATT c.1260
A V R T L I T I G G L P E P Q T L F E I p.420
. . . . . . g.115924
GTTTTTCAACTCTTGAATTTTTTTTCTGGAGTTTTTGTGTTCTCCAGTTTAATTGGTCAG c.1320
V F Q L L N F F S G V F V F S S L I G Q p.440
| 12 . . . . . . g.119657
| ATGAGAGATGTGATTGGAGCAGCTACAGCCAATCAGAACTACTTCCGCGCCTGCATGGAT c.1380
| M R D V I G A A T A N Q N Y F R A C M D p.460
. . . . . . g.119717
GACACCATTGCCTACATGAACAATTACTCCATTCCTAAACTTGTGCAAAAGCGAGTTCGG c.1440
D T I A Y M N N Y S I P K L V Q K R V R p.480
. . . . | 13 . . g.122615
ACTTGGTATGAATATACATGGGACTCTCAAAGAATGCTAG | ATGAGTCTGATTTGCTTAAG c.1500
T W Y E Y T W D S Q R M L D | E S D L L K p.500
. . . . . . g.122675
ACCCTACCAACTACGGTCCAGTTAGCCCTCGCCATTGATGTGAACTTCAGCATCATCAGC c.1560
T L P T T V Q L A L A I D V N F S I I S p.520
. | 14 . . . . g.137046
AAAGTCGACTTGTTCAAG | GGTTGTGATACACAGATGATTTATGACATGTTGCTAAGATTG c.1620
K V D L F K | G C D T Q M I Y D M L L R L p.540
. . . . | 15 . . g.144482
AAATCCGTTCTCTATTTGCCTGGTGACTTTGTCTGCAAAAAG | GGAGAAATTGGCAAGGAA c.1680
K S V L Y L P G D F V C K K | G E I G K E p.560
. . . . . . g.144542
ATGTATATCATCAAGCATGGAGAAGTCCAAGTTCTTGGAGGCCCTGATGGTACTAAAGTT c.1740
M Y I I K H G E V Q V L G G P D G T K V p.580
. . . . | 16 . . g.169442
CTGGTTACTCTGAAAGCTGGGTCGGTGTTTGGAGAAATCAG | CCTTCTAGCAGCAGGAGGA c.1800
L V T L K A G S V F G E I S | L L A A G G p.600
. . . . . . g.169502
GGAAACCGTCGAACTGCCAATGTGGTGGCCCACGGGTTTGCCAATCTTTTAACTCTAGAC c.1860
G N R R T A N V V A H G F A N L L T L D p.620
. . . . . . g.169562
AAAAAGACCCTCCAAGAAATTCTAGTGCATTATCCAGATTCTGAAAGGATCCTCATGAAG c.1920
K K T L Q E I L V H Y P D S E R I L M K p.640
| 17 . . . . . g.169864
AAAGCCAG | AGTGCTTTTAAAGCAGAAGGCTAAGACCGCAGAAGCAACCCCTCCAAGAAAA c.1980
K A R | V L L K Q K A K T A E A T P P R K p.660
. . . . . . g.169924
GATCTTGCCCTCCTCTTCCCACCGAAAGAAGAGACACCCAAACTGTTTAAAACTCTCCTA c.2040
D L A L L F P P K E E T P K L F K T L L p.680
. . . . . . g.169984
GGAGGCACAGGAAAAGCAAGTCTTGCAAGACTACTCAAATTGAAGCGAGAGCAAGCAGCT c.2100
G G T G K A S L A R L L K L K R E Q A A p.700
| 18 . . . . . . g.172602
CAG | AAGAAAGAAAATTCTGAAGGAGGAGAGGAAGAAGGAAAAGAAAATGAAGATAAACAA c.2160
Q | K K E N S E G G E E E G K E N E D K Q p.720
. . . . . . g.172662
AAAGAAAATGAAGATAAACAAAAAGAAAATGAAGATAAAGGAAAAGAAAATGAAGATAAA c.2220
K E N E D K Q K E N E D K G K E N E D K p.740
. . . . . . g.172722
GATAAAGGAAGAGAGCCAGAAGAGAAGCCACTGGACAGACCTGAATGTACAGCAAGTCCT c.2280
D K G R E P E E K P L D R P E C T A S P p.760
. . . . . . g.172782
ATTGCAGTGGAGGAAGAACCCCACTCAGTTAGAAGGACAGTTTTACCCAGAGGGACTTCT c.2340
I A V E E E P H S V R R T V L P R G T S p.780
. . . . . . g.172842
CGTCAATCACTCATTATCAGCATGGCTCCTTCTGCTGAGGGCGGAGAAGAGGTTCTTACT c.2400
R Q S L I I S M A P S A E G G E E V L T p.800
. . . g.172872
ATTGAAGTCAAAGAAAAGGCTAAGCAATAA c.2430
I E V K E K A K Q X p.809
. . . . . . g.172932
atgtttgattatctttagatgtgatatagctagttcccaaagtgattgtacctaggattg c.*60
. . . . . . g.172992
taacttaaattaacgaggggaaacgacatgctgggacccttgagaaacgaaaggcaaatc c.*120
. . . . . . g.173052
cctagcttagtttctaggacttatctgagagtgtgatttcatgcagtggtaataagaaga c.*180
. . . . . . g.173112
ttattaaaagccatccctattctccgttttcattaactttatgcaattgctatatcttct c.*240
. . . . . . g.173172
aattgtatgtagtaagtttccttttcctttggttctttcctgatgatgtctcttccttcc c.*300
. . . . . . g.173232
agttttattagcttgctcttggctgtgatgtgattcactaaccttttctcttaattttta c.*360
. . . . . . g.173292
ttgtgtttaatttcttctttggcactctaaagcctggctaattgttctaggtttatgaat c.*420
. . . . . . g.173352
ttcacctcttacatgtaaagggtataagattttaatgtaataggtcaaaaatcagattat c.*480
. . . . . . g.173412
tttcattcaaatgaggatgatgagtcactgtaatatcaaaaaatccccagcagctgggac c.*540
. . . . . . g.173472
tgaagggaagcagagatcatgaagctttctgaatgagaagtctgatttttggaacagtcc c.*600
. . . . . . g.173532
cctgaagaccaatgttggtcggcagaattagcaaactggcaaaatcacattgcaggaaca c.*660
. . . . . . g.173592
tattggaaaaattgtaccctttactaaagaaataaacttcaatattttctcttctaacca c.*720
. . . . . . g.173652
acttaaaagacaccaatctacctaactcatctggctcaagggacttggactggaggatac c.*780
. . . . . . g.173712
aggctaaagtgacacttatcagaatcttcctcaagcacttgctggaaaagatatcagatt c.*840
. . . . . . g.173772
ggaacttcttgtttaaaattaagctttagtaaaacaaagtgatgaggttaggaaggcaga c.*900
. . . . . . g.173832
ctctacacatgtcagattgacatatccccacaatttccggaacctacatgtatagctgtt c.*960
. . . . . . g.173892
tacaaaatctccaagttaattaagggcactttaggaagttgtcctcatgaattagctagc c.*1020
. . . . . . g.173952
attagcataattaccgacgttgcatgctgtgaggaggctacaaaggccaggctggtgtcg c.*1080
. . . . . . g.174012
gaagtaataatacatatagaattccattctaataaatgccattagtgtataacatcaagt c.*1140
. . . . . . g.174072
tctgtgtaatgaggctatttccaagtctccaaagatggtcactgtaacagcactttgctg c.*1200
. . . . . . g.174132
agagggttttaacaaatcatattagccaaaaagcctacaacatagatgcatttagcaaac c.*1260
. . . . . . g.174192
catgtacaaatcaatcactataataaactgcatcatttgatagagtcaccgtttttgcat c.*1320
. . . . . . g.174252
gtagtgttagagtatcacaaaatataacaagttttactaaaggatggttggttttttcag c.*1380
. . . . . . g.174312
gatttaagggaatatggacaaattgttaaatagtatttatttgataaatgggagtttgta c.*1440
. . . . . . g.174372
tgcagaaagagtgaattgcgtataaaaagggtgatttaaaaacccagaaacaaaaggtag c.*1500
. . . . . . g.174432
aatagggctgaagcatctgataataggaaaagaaaaggacaaaagtcctcaacttgtgag c.*1560
. . . . . . g.174492
caatatgctttccctttacaccctgtaatttattcaaatgatattaaaatacaagaccat c.*1620
. . . . . . g.174552
tgcaatttatgcttttcgcctggcagttattttcccccccaagctatcctgtttcagata c.*1680
. . . . . . g.174612
atatcaatttatttccaatccatcagactaaaatctaagaaaattcaagaactcttttat c.*1740
. . . . . . g.174672
tgttgatttggtgccaccaaattctttttctttttaaatctttctaattatcctttcttt c.*1800
. . . . . . g.174732
ttcaatcccattgctaacacccagaacatattttctgttcaatgcaaataaacattcact c.*1860
g.174741
ttttaccta c.*1869
(downstream sequence)
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