(used for variant description)
(last modified February 14, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_173689.5 in the CRB2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering CRB2 transcript NM_173689.5.
(upstream sequence)
. . . g.5032
tagtgctggttggagggacgaggggggtgcgg c.-61
. . . . . . g.5092
agccagccaggccgccctcccgttctcacagcagccgagcagagcgcagagcgggctgcc c.-1
. . . . . . g.5152
ATGGCGCTGGCCAGGCCTGGGACCCCGGACCCCCAGGCCCTGGCCTCTGTCCTGCTACTG c.60
M A L A R P G T P D P Q A L A S V L L L p.20
. . . | 02 . . . g.11722
CTGCTCTGGGCCCCTGCCCTTTCCCTCCTGGCTG | GGACGGTGCCTTCAGAGCCCCCCAGT c.120
L L W A P A L S L L A G | T V P S E P P S p.40
. . . . . . g.11782
GCCTGTGCCTCAGACCCGTGCGCTCCAGGGACCGAGTGCCAGGCTACCGAGAGTGGTGGC c.180
A C A S D P C A P G T E C Q A T E S G G p.60
. . . . . . g.11842
TATACCTGTGGGCCCATGGAGCCCCGGGGCTGTGCCACCCAGCCATGCCACCACGGCGCT c.240
Y T C G P M E P R G C A T Q P C H H G A p.80
. . . . . . g.11902
CTGTGTGTGCCCCAGGGTCCAGATCCCACCGGCTTCCGCTGCTACTGCGTGCCGGGTTTC c.300
L C V P Q G P D P T G F R C Y C V P G F p.100
. . . . . . g.11962
CAGGGCCCACGCTGCGAGCTGGACATCGATGAGTGTGCATCCCGGCCGTGCCACCATGGG c.360
Q G P R C E L D I D E C A S R P C H H G p.120
. . . . . | 03 g.14750
GCCACCTGCCGCAACCTGGCCGATCGCTACGAGTGCCATTGCCCCCTTGGCTATGCAG | GC c.420
A T C R N L A D R Y E C H C P L G Y A G | p.140
. . . . . . g.14810
GTGACCTGCGAGATGGAGGTGGACGAGTGCGCCTCAGCGCCCTGCCTGCACGGGGGCTCG c.480
V T C E M E V D E C A S A P C L H G G S p.160
. . . . . . g.14870
TGCCTGGACGGCGTGGGCTCCTTCCGCTGTGTGTGCGCGCCAGGCTACGGGGGCACCCGT c.540
C L D G V G S F R C V C A P G Y G G T R p.180
. . . . . . g.14930
TGCCAGCTGGACCTCGACGAGTGCCAGAGCCAGCCGTGCGCACATGGGGGCACGTGCCAC c.600
C Q L D L D E C Q S Q P C A H G G T C H p.200
. | 04 . . . . . g.15104
GACCTGGTCAACGG | GTTCCGGTGCGACTGCGCGGGCACCGGCTACGAGGGCACGCACTGC c.660
D L V N G | F R C D C A G T G Y E G T H C p.220
. . . . . . g.15164
GAGCGGGAGGTGCTGGAGTGCGCATCGGCGCCCTGCGAGCACAACGCGTCCTGCCTCGAG c.720
E R E V L E C A S A P C E H N A S C L E p.240
. . . | 05 . . . g.16029
GGCCTCGGGAGCTTCCGCTGCCTCTGTTGGCCAG | GCTACAGCGGCGAGCTGTGCGAGGTG c.780
G L G S F R C L C W P G | Y S G E L C E V p.260
. . . . . . g.16089
GACGAGGACGAGTGTGCATCGAGCCCCTGCCAGCATGGGGGCCGATGCCTGCAGCGCTCT c.840
D E D E C A S S P C Q H G G R C L Q R S p.280
. . . . . . g.16149
GACCCGGCCCTCTACGGGGGTGTCCAGGCCGCCTTCCCTGGCGCCTTCAGCTTCCGCCAT c.900
D P A L Y G G V Q A A F P G A F S F R H p.300
. . . . | 06 . . g.16424
GCTGCGGGTTTCCTGTGCCACTGCCCTCCTGGCTTTGAGG | GAGCCGACTGCGGTGTGGAG c.960
A A G F L C H C P P G F E G | A D C G V E p.320
. . . . . . g.16484
GTGGACGAGTGTGCCTCACGGCCATGCCTCAACGGAGGCCACTGCCAGGACCTGCCCAAT c.1020
V D E C A S R P C L N G G H C Q D L P N p.340
. . . | 07 . . . g.18965
GGCTTCCAGTGTCACTGCCCAGATGGCTACGCAG | GGCCGACATGTGAGGAAGATGTGGAT c.1080
G F Q C H C P D G Y A G | P T C E E D V D p.360
. . . . . . g.19025
GAATGCCTGTCGGATCCCTGCCTGCACGGCGGAACCTGCAGTGACACTGTGGCAGGCTAT c.1140
E C L S D P C L H G G T C S D T V A G Y p.380
. . . . . . g.19085
ATCTGCAGGTGCCCAGAGACCTGGGGTGGGCGCGACTGTTCTGTGCAGCTCACTGGCTGC c.1200
I C R C P E T W G G R D C S V Q L T G C p.400
. . . . . . g.19145
CAGGGCCACACCTGCCCGCTGGCTGCCACCTGCATCCCTATCTTCGAGTCTGGGGTCCAC c.1260
Q G H T C P L A A T C I P I F E S G V H p.420
. . . . . . g.19205
AGTTACGTCTGCCACTGCCCACCTGGTACCCATGGACCGTTCTGTGGCCAGAATACCACC c.1320
S Y V C H C P P G T H G P F C G Q N T T p.440
. . . . . . g.19265
TTCTCTGTGATGGCTGGGAGCCCCATTCAGGCATCAGTGCCAGCTGGTGGCCCCCTGGGT c.1380
F S V M A G S P I Q A S V P A G G P L G p.460
. . . . . . g.19325
CTGGCACTGAGGTTTCGCACCACACTGCCCGCTGGGACCTTGGCCACTCGCAATGACACC c.1440
L A L R F R T T L P A G T L A T R N D T p.480
. . . . . . g.19385
AAGGAAAGCTTGGAGCTGGCATTGGTGGCAGCCACACTTCAGGCCACACTCTGGAGCTAC c.1500
K E S L E L A L V A A T L Q A T L W S Y p.500
. . . . . . g.19445
AGCACCACTGTGCTTGTCCTGAGACTGCCGGACCTGGCCCTAAACGATGGCCATTGGCAC c.1560
S T T V L V L R L P D L A L N D G H W H p.520
. . . . . . g.19505
CAGGTGGAGGTTGTGCTCCATCTAGCGACCCTGGAGCTACGGCTCTGGCATGAGGGCTGC c.1620
Q V E V V L H L A T L E L R L W H E G C p.540
. . . . . . g.19565
CCTGCCCGGCTCTGTGTGGCCTCTGGTCCTGTGGCCCTGGCTTCCACGGCTTCGGCAACT c.1680
P A R L C V A S G P V A L A S T A S A T p.560
. . . . . . g.19625
CCGCTGCCTGCCGGGATCTCCTCTGCCCAGCTGGGGGACGCGACCTTTGCAGGCTGCCTC c.1740
P L P A G I S S A Q L G D A T F A G C L p.580
. . . . . . g.19685
CAGGACGTGCGTGTGGATGGCCACCTCCTGCTGCCTGAGGATCTCGGTGAGAACGTCCTC c.1800
Q D V R V D G H L L L P E D L G E N V L p.600
. . . . . . g.19745
CTGGGCTGTGAGCGCCGAGAGCAGTGCCGGCCTCTGCCTTGTGTCCACGGAGGGTCCTGT c.1860
L G C E R R E Q C R P L P C V H G G S C p.620
. . . . . . g.19805
GTGGATCTGTGGACTCATTTCCGTTGCGACTGTGCCCGGCCCCATAGAGGTCCCACGTGC c.1920
V D L W T H F R C D C A R P H R G P T C p.640
| 08. . . . . . g.19954
GCTGATG | AGATTCCTGCTGCCACCTTTGGCTTGGGAGGCGCCCCAAGCTCTGCCTCCTTT c.1980
A D E | I P A A T F G L G G A P S S A S F p.660
. . . . . . g.20014
CTGCTCCAAGAGCTGCCAGGTCCCAACCTCACAGTGTCTTTCCTTCTCCGCACTCGGGAG c.2040
L L Q E L P G P N L T V S F L L R T R E p.680
. . . . . . g.20074
TCCGCTGGCCTGTTGCTCCAGTTTGCCAATGACTCCGCAGCTGGCCTAACAGTATTCCTG c.2100
S A G L L L Q F A N D S A A G L T V F L p.700
. . . . . . g.20134
AGTGAGGGTCGGATCCGGGCTGAGGTGCCGGGCAGTCCTGCTGTAGTGCTCCCTGGGCGC c.2160
S E G R I R A E V P G S P A V V L P G R p.720
. . . . . . g.20194
TGGGATGATGGGCTCCGTCACCTGGTGATGCTCAGCTTCGGGCCTGACCAGCTGCAGGAC c.2220
W D D G L R H L V M L S F G P D Q L Q D p.740
. . . . . . g.20254
CTGGGGCAGCACGTGCACGTGGGTGGGAGGCTCCTTGCTGCCGACAGCCAGCCCTGGGGT c.2280
L G Q H V H V G G R L L A A D S Q P W G p.760
. . . . . . g.20314
GGGCCCTTCCGAGGCTGCCTCCAGGACCTGCGACTCGATGGCTGCCACCTCCCCTTCTTT c.2340
G P F R G C L Q D L R L D G C H L P F F p.780
. . . . . . g.20374
CCTCTGCCACTGGATAACTCAAGCCAGCCCAGCGAGCTCGGCGGCAGGCAGTCCTGGAAC c.2400
P L P L D N S S Q P S E L G G R Q S W N p.800
. . . | 09 . . . g.21032
CTCACTGCGGGCTGCGTCTCCGAGGACATGTGCAGT | CCTGACCCCTGTTTCAATGGTGGG c.2460
L T A G C V S E D M C S | P D P C F N G G p.820
. . . . . . g.21092
ACTTGCCTCGTCACCTGGAATGACTTCCACTGTACCTGCCCTGCCAATTTCACGGGGCCT c.2520
T C L V T W N D F H C T C P A N F T G P p.840
. . . . . . g.21152
ACGTGTGCCCAGCAGCTGTGGTGTCCCGGCCAGCCCTGTCTCCCACCTGCCACGTGTGAG c.2580
T C A Q Q L W C P G Q P C L P P A T C E p.860
. . | 10 . . . . g.22003
GAGGTCCCTGATGGCTTTGTGT | GTGTGGCGGAGGCCACGTTCCGCGAGGGTCCCCCCGCC c.2640
E V P D G F V C | V A E A T F R E G P P A p.880
. . . . . . g.22063
GCGTTCAGCGGGCACAACGCGTCGTCAGGGCGCTTGCTCGGCGGCCTGTCGCTGGCCTTT c.2700
A F S G H N A S S G R L L G G L S L A F p.900
. . . . . . g.22123
CGCACGCGCGACTCCGAGGCCTGGCTGCTGCGTGCCGCGGCGGGCGCCCTGGAAGGCGTG c.2760
R T R D S E A W L L R A A A G A L E G V p.920
. . . . . . g.22183
TGGCTGGCGGTGCGCAATGGCTCGCTGGCGGGGGGCGTGCGCGGAGGCCATGGCCTGCCC c.2820
W L A V R N G S L A G G V R G G H G L P p.940
. . . . . . g.22243
GGCGCTGTGCTGCCCATACCGGGGCCGCGCGTGGCCGATGGTGCCTGGCACCGCGTGCGT c.2880
G A V L P I P G P R V A D G A W H R V R p.960
. . . . . . g.22303
CTGGCCATGGAGCGCCCGGCGGCCACCACCTCGCGCTGGCTGCTGTGGCTGGATGGTGCC c.2940
L A M E R P A A T T S R W L L W L D G A p.980
. . . . . . g.22363
GCCACCCCGGTGGCGCTGCGCGGCCTGGCCAGTGACCTGGGCTTCCTGCAGGGCCCGGGT c.3000
A T P V A L R G L A S D L G F L Q G P G p.1000
. . . . . . g.22423
GCTGTGCGCATCCTGCTGGCTGAGAACTTCACCGGCTGCTTGGGCCGCGTGGCGCTGGGC c.3060
A V R I L L A E N F T G C L G R V A L G p.1020
. . . . . . g.22483
GGCCTGCCCCTGCCCTTGGCGCGGCCCCGGCCCGGCGCGGCCCCTGGCGCCCGAGAGCAC c.3120
G L P L P L A R P R P G A A P G A R E H p.1040
. . . . . . g.22543
TTCGCGTCTTGGCCTGGGACGCCGGCCCCGATCCTCGGCTGCCGCGGCGCGCCCGTGTGT c.3180
F A S W P G T P A P I L G C R G A P V C p.1060
. . . . . . g.22603
GCGCCCTCGCCCTGTCTGCACGACGGTGCCTGCCGTGACCTCTTCGACGCCTTTGCCTGC c.3240
A P S P C L H D G A C R D L F D A F A C p.1080
. . . . . . g.22663
GCCTGCGGCCCGGGGTGGGAAGGCCCGCGCTGCGAAGCCCACGTCGACCCCTGTCACTCC c.3300
A C G P G W E G P R C E A H V D P C H S p.1100
. . . . . . g.22723
GCCCCCTGCGCCCGTGGCCGCTGTCACACGCACCCCGACGGCCGCTTCGAGTGCCGCTGC c.3360
A P C A R G R C H T H P D G R F E C R C p.1120
. . | 11 . . . g.23441
CCGCCTGGCTTCGGGGGCCCGCGCTGCAG | GTTGCCTGTCCCATCCAAGGAGTGCAGCCTG c.3420
P P G F G G P R C R | L P V P S K E C S L p.1140
. . . . . . g.23501
AATGTCACCTGCCTCGATGGCAGCCCATGTGAGGGTGGCTCTCCCGCTGCCAACTGCAGC c.3480
N V T C L D G S P C E G G S P A A N C S p.1160
. . | 12 . . . . g.24082
TGCCTGGAGGGTCTTGCTGGCCAGAG | GTGTCAGGTCCCCACTCTCCCCTGTGAAGCCAAC c.3540
C L E G L A G Q R | C Q V P T L P C E A N p.1180
. . . . . . g.24142
CCCTGCTTGAATGGGGGCACCTGCCGGGCAGCTGGAGGGGTGTCTGAATGTATCTGCAAT c.3600
P C L N G G T C R A A G G V S E C I C N p.1200
. . . | 13 . . . g.25696
GCCAGATTCTCCGGCCAGTTCTGTGAAGTGGCG | AAGGGCCTGCCCCTGCCGCTGCCATTC c.3660
A R F S G Q F C E V A | K G L P L P L P F p.1220
. . . . . . g.25756
CCACTGCTGGAGGTGGCCGTACCTGCAGCCTGTGCCTGCCTCCTCCTCCTCCTCCTGGGC c.3720
P L L E V A V P A A C A C L L L L L L G p.1240
. . . . . . g.25816
CTCCTTTCAGGGATCCTGGCAGCCCGAAAGCGCCGCCAGTCTGAGGGCACCTACAGCCCA c.3780
L L S G I L A A R K R R Q S E G T Y S P p.1260
. . . . . . g.25876
AGCCAGCAGGAGGTGGCTGGGGCCCGGCTGGAGATGGACAGTGTCCTCAAGGTGCCACCG c.3840
S Q Q E V A G A R L E M D S V L K V P P p.1280
. g.25894
GAGGAGAGACTCATCTAG c.3858
E E R L I X p.1285
. . . . . . g.25954
gccagcctggctgctggcaccagcacctggaggtcctgaatggtttctacctggagaccc c.*60
. . . . . . g.26014
aaggaagctgcttccagggctcgggacattgctacggaagtgtccccttggctggcagcc c.*120
. . . . . . g.26074
tctgcctctgcctctgccccatcctggatggaggacgaggggagcaactcagggaaacag c.*180
. . . . . . g.26134
aggcctagagaggctgcggacttctccatcccaccctcggggttccgccttggcaggtgt c.*240
. . . . . . g.26194
acggctgtgcgtgggagggcacacgtgggttcacagtgtgttcaggagtgtgtgtatctg c.*300
. . . . . . g.26254
gaggagtgtgtgtgtgagtgtgtacctgggcctgtgttagtctgcagatgctagtgtgag c.*360
. . . . . . g.26314
tgtgtcctgacatggctccagggcgtgtctgccgtgtttactgtgtgtctatgactgtga c.*420
. . . . . . g.26374
tgggtgtagctgatcccaggaggtggcggctgcgccatggggtcaaccattacagtccta c.*480
. . . . . . g.26434
gggcaggggcggcccaaggctgcatgttctccaggaggccaggccggggttgcccaggca c.*540
. . . . . . g.26494
cctccttccccgcctctgggggctgctcctgctgtggaggcagctgggaagtcagggaag c.*600
. . . . . . g.26554
gccactagcagaggctgagtgggcttctggctcctagaacaaatgtcccttcaggcaggt c.*660
. . . . . . g.26614
ctgtctgccagaagccagagccagtcatgcgagggaaccacagacccacccgccccctca c.*720
. . . . . . g.26674
gccggagcagcccgagggagcagaggaggggctgcctggagcttcccaccctgctgtggt c.*780
. . . . . . g.26734
catttgtcaaagggggaaggcacccactgcctacctcacagggctgttgtgaggatcaga c.*840
. . . . . . g.26794
gaggacgacagtggggaaagaatctggaagtcttcaactgccgtctgatgggaaggaccg c.*900
. . . . . . g.26854
tctgggtgtccttctgggatgaggatgacagagcaacccttctcctgccctgaacccccc c.*960
. . . . . . g.26914
cagctcacctgaccacctctggttctccagctccggtccttcctagcagcctggtgagct c.*1020
. . . . . . g.26974
cactccttcccctgatgactggctgcctctacacagactcggcgagaggacttgaaggaa c.*1080
. . . . . . g.27034
gccctctgggttgtctgctgagtacaggggctcagtgaacactggcgctgcctctgagtc c.*1140
. . . . . . g.27094
ggggctgggcctgcagaggccgactcagaggagactctgctgcttgctcccagccccttc c.*1200
. . . . . . g.27154
cccggcgatgcccatcacactgtgacctcccatccctgaagggcacctgcctgagggcct c.*1260
. . . . . . g.27214
ggcctccttccagcttcatggacctggagatgtgccctttcatccttcctgcttcccagg c.*1320
. . . . . . g.27274
ccagtagatccgtttacacttttgggtcgacagtcagcttttccttttggttttggcggg c.*1380
. . . . . . g.27334
tcccagaggcatgggtgtccagtccaatgtggggagccacgtgacaacgtgggggactgg c.*1440
. . . . . . g.27394
gacatgggactgggaagtcagcagacgctgggatagagagggccctgaacaccaggctca c.*1500
. . . . . . g.27454
ggggcttgcttggtccttatcctgtaggaggtgggaccacctttccctgaactttctcta c.*1560
. . . . . . g.27514
caacccttgggagcgtggggaggaggcggctggttccagggtcagtttactaagttagag c.*1620
. . . . . . g.27574
atttggaaaacctgtgtcagctgtaactcctaggatattttatgtggaacctaacatgca c.*1680
. g.27585
gatgaaagctg c.*1691
(downstream sequence)
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