(used for variant description)
(last modified February 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_201253.2 in the CRB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008483.1, covering CRB1 transcript NM_201253.2.
(upstream sequence)
. . g.4955
cctcccgtgtaagtgatgctaagaagcac c.-181
. . . . . . g.5015
aaactgcattttgaatctaagtccctgtattttctgtgaaggagctgtaagtagggtggg c.-121
. . . . . . g.5075
acagagatggcacctgggggttctgaggcacccgctcctctctgagacagacagggatca c.-61
. . . . . . g.5135
ggagccggactgggaccagaccaccagcaacacaccagaggatgttctctaaataagacc c.-1
. . . . . . g.5195
ATGGCACTTAAGAACATTAACTACCTTCTCATCTTCTACCTCAGTTTCTCACTGCTTATC c.60
M A L K N I N Y L L I F Y L S F S L L I p.20
. | 02 . . . . . g.65194
TACATAAAAA | ATTCCTTTTGCAATAAAAACAACACCAGGTGCCTCTCAAATTCTTGCCAA c.120
Y I K N | S F C N K N N T R C L S N S C Q p.40
. . . . . . g.65254
AACAATTCTACATGCAAAGATTTTTCAAAAGACAATGATTGTTCTTGTTCAGACACAGCC c.180
N N S T C K D F S K D N D C S C S D T A p.60
. . . . . . g.65314
AATAATTTGGACAAAGACTGTGACAACATGAAAGACCCTTGCTTCTCCAATCCCTGTCAA c.240
N N L D K D C D N M K D P C F S N P C Q p.80
. . . . . . g.65374
GGAAGTGCCACTTGTGTGAACACCCCAGGAGAAAGGAGCTTTCTGTGCAAATGTCCTCCT c.300
G S A T C V N T P G E R S F L C K C P P p.100
. . . . . . g.65434
GGGTACAGTGGGACAATCTGTGAAACTACCATTGGTTCCTGTGGCAAGAACTCCTGCCAA c.360
G Y S G T I C E T T I G S C G K N S C Q p.120
. . . . . . g.65494
CATGGAGGTATTTGCCATCAGGACCCTATTTATCCTGTCTGCATCTGCCCTGCTGGATAT c.420
H G G I C H Q D P I Y P V C I C P A G Y p.140
. . . . . . g.65554
GCTGGAAGATTCTGTGAGATAGATCACGATGAGTGTGCTTCCAGCCCTTGCCAAAATGGG c.480
A G R F C E I D H D E C A S S P C Q N G p.160
. . . . . . g.65614
GCCGTGTGCCAGGATGGAATTGATGGTTACTCCTGCTTCTGTGTCCCAGGATATCAAGGC c.540
A V C Q D G I D G Y S C F C V P G Y Q G p.180
. . . . . . g.65674
AGACACTGCGACTTGGAAGTGGATGAATGTGCTTCAGATCCCTGCAAGAACGAGGCTACA c.600
R H C D L E V D E C A S D P C K N E A T p.200
. . . . . | 03 . g.81011
TGCCTCAATGAAATAGGAAGATATACTTGTATCTGTCCCCACAATTATTCTG | GTGTAAAC c.660
C L N E I G R Y T C I C P H N Y S G | V N p.220
. . . . . . g.81071
TGTGAATTGGAAATTGACGAATGTTGGTCCCAGCCTTGTTTAAATGGTGCAACTTGTCAG c.720
C E L E I D E C W S Q P C L N G A T C Q p.240
. . . . . . g.81131
GATGCTCTGGGGGCCTATTTCTGCGACTGTGCCCCTGGATTCCTGGGGGATCACTGTGAA c.780
D A L G A Y F C D C A P G F L G D H C E p.260
. . . . . . g.81191
CTCAACACTGATGAGTGTGCCAGTCAACCTTGTCTCCATGGAGGGCTGTGTGTGGATGGA c.840
L N T D E C A S Q P C L H G G L C V D G p.280
| 04 . . . . . g.84114
GAAAACAG | ATATAGCTGTAACTGCACGGGTAGTGGATTCACAGGGACACACTGTGAGACC c.900
E N R | Y S C N C T G S G F T G T H C E T p.300
. . . . . . g.84174
TTGATGCCTCTTTGTTGGTCAAAACCTTGTCACAATAATGCTACATGTGAGGACAGTGTT c.960
L M P L C W S K P C H N N A T C E D S V p.320
. . | 05 . . . g.93585
GACAATTACACTTGTCACTGCTGGCCTG | GATACACAGGTGCCCAGTGTGAGATCGACCTC c.1020
D N Y T C H C W P G | Y T G A Q C E I D L p.340
. . . . . . g.93645
AATGAATGCAATAGTAACCCCTGCCAGTCCAATGGGGAATGTGTGGAGCTGTCCTCAGAG c.1080
N E C N S N P C Q S N G E C V E L S S E p.360
. . . . . . g.93705
AAACAATATGGACGCATCACTGGACTGCCTTCTTCTTTCAGCTACCATGAAGCCTCAGGT c.1140
K Q Y G R I T G L P S S F S Y H E A S G p.380
. . . | 06 . . . g.157751
TATGTCTGTATCTGTCAGCCTGGATTCACAG | GAATCCACTGCGAAGAAGACGTCAATGAA c.1200
Y V C I C Q P G F T G | I H C E E D V N E p.400
. . . . . . g.157811
TGTTCTTCAAACCCTTGCCAAAATGGTGGTACTTGTGAGAACTTGCCTGGGAATTATACT c.1260
C S S N P C Q N G G T C E N L P G N Y T p.420
. . . . . . g.157871
TGCCATTGCCCATTTGATAACCTTTCTAGAACTTTTTATGGAGGAAGGGACTGTTCTGAT c.1320
C H C P F D N L S R T F Y G G R D C S D p.440
. . . . . . g.157931
ATTCTCCTGGGCTGTACCCATCAGCAATGTCTAAATAATGGAACATGCATCCCTCACTTC c.1380
I L L G C T H Q Q C L N N G T C I P H F p.460
. . . . . . g.157991
CAAGATGGCCAGCATGGATTCAGCTGCCTGTGTCCATCTGGCTACACCGGGTCCCTGTGT c.1440
Q D G Q H G F S C L C P S G Y T G S L C p.480
. . . . . . g.158051
GAAATCGCAACCACACTTTCATTTGAGGGCGATGGCTTCCTGTGGGTCAAAAGTGGCTCA c.1500
E I A T T L S F E G D G F L W V K S G S p.500
. . . . . . g.158111
GTGACAACCAAGGGCTCAGTTTGTAACATAGCCCTCAGGTTTCAGACTGTTCAGCCAATG c.1560
V T T K G S V C N I A L R F Q T V Q P M p.520
. . . . . . g.158171
GCTCTTCTACTTTTCCGAAGCAACAGGGATGTGTTTGTGAAGCTGGAGCTGCTAAGTGGC c.1620
A L L L F R S N R D V F V K L E L L S G p.540
. . . . . . g.158231
TACATTCACTTATCAATTCAGGTCAATAATCAGTCAAAGGTGCTTCTGTTCATTTCCCAC c.1680
Y I H L S I Q V N N Q S K V L L F I S H p.560
. . . . . . g.158291
AACACCAGCGATGGAGAGTGGCATTTCGTGGAGGTAATATTTGCAGAGGCTGTGACCCTT c.1740
N T S D G E W H F V E V I F A E A V T L p.580
. . . . . . g.158351
ACCTTAATCGACGACTCCTGTAAGGAGAAATGCATCGCGAAAGCTCCTACTCCACTTGAA c.1800
T L I D D S C K E K C I A K A P T P L E p.600
. . . . . . g.158411
AGTGATCAATCAATATGTGCTTTTCAGAACTCCTTTTTGGGTGGTTTACCAGTGGGAATG c.1860
S D Q S I C A F Q N S F L G G L P V G M p.620
. . . . . . g.158471
ACCAGCAATGGTGTTGCTCTGCTTAACTTCTATAATATGCCATCCACACCTTCGTTTGTA c.1920
T S N G V A L L N F Y N M P S T P S F V p.640
. . . . . . g.158531
GGCTGTCTCCAAGACATTAAAATTGATTGGAATCACATTACCCTGGAGAACATCTCGTCT c.1980
G C L Q D I K I D W N H I T L E N I S S p.660
. . . . . . g.158591
GGCTCATCATTAAATGTCAAGGCAGGCTGTGTGAGAAAGGATTGGTGTGAAAGCCAACCT c.2040
G S S L N V K A G C V R K D W C E S Q P p.680
. . . . . . g.158651
TGTCAAAGCAGAGGACGCTGCATCAACTTGTGGCTGAGTTACCAGTGTGACTGCCACAGG c.2100
C Q S R G R C I N L W L S Y Q C D C H R p.700
. . | 07 . . . g.164208
CCCTATGAAGGCCCCAACTGTCTGAGAG | AGTATGTGGCAGGCAGATTTGGCCAGGATGAC c.2160
P Y E G P N C L R E | Y V A G R F G Q D D p.720
. . . . . . g.164268
TCCACTGGTTATGTCATCTTTACTCTTGATGAGAGCTATGGAGACACCATCAGCCTCTCC c.2220
S T G Y V I F T L D E S Y G D T I S L S p.740
. . . . . . g.164328
ATGTTTGTCCGAACGCTTCAACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTAT c.2280
M F V R T L Q P S G L L L A L E N S T Y p.760
. . . . . . g.164388
CAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCC c.2340
Q Y I R V W L E R G R L A M L T P N S P p.780
. . . . . . g.164448
AAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATC c.2400
K L V V K F V L N D G N V H L I S L K I p.800
. . . . . . g.164508
AAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCT c.2460
K P Y K I E L Y Q S S Q N L G F I S A S p.820
. . . . . . g.164568
ACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAG c.2520
T W K I E K G D V I Y I G G L P D K Q E p.840
. . . . . . g.164628
ACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAGATGTAAGACTAAACAACCAA c.2580
T E L N G G F F K G C I Q D V R L N N Q p.860
. . . . . . g.164688
AATCTGGAATTCTTTCCAAATCCAACAAACAATGCATCTCTCAATCCAGTTCTTGTCAAT c.2640
N L E F F P N P T N N A S L N P V L V N p.880
. . . | 08 . . . g.166195
GTAACCCAAGGCTGTGCTGGAGACAACAGCTGCAAG | TCCAACCCCTGTCACAATGGAGGT c.2700
V T Q G C A G D N S C K | S N P C H N G G p.900
. . . . . . g.166255
GTTTGCCATTCCCGGTGGGATGACTTCTCCTGTTCCTGTCCTGCCCTCACAAGTGGGAAA c.2760
V C H S R W D D F S C S C P A L T S G K p.920
. . . . . . g.166315
GCCTGTGAGGAGGTTCAGTGGTGTGGATTCAGCCCGTGTCCTCACGGAGCCCAGTGCCAG c.2820
A C E E V Q W C G F S P C P H G A Q C Q p.940
. . | 09 . . . . g.171466
CCGGTGCTTCAAGGATTTGAAT | GTATTGCAAATGCTGTTTTTAATGGACAAAGCGGTCAA c.2880
P V L Q G F E C | I A N A V F N G Q S G Q p.960
. . . . . . g.171526
ATATTATTCAGAAGCAATGGGAATATTACCAGAGAACTCACCAATATCACATTTGGTTTC c.2940
I L F R S N G N I T R E L T N I T F G F p.980
. . . . . . g.171586
AGAACAAGGGATGCAAATGTAATAATATTGCATGCAGAAAAAGAGCCTGAATTTCTTAAT c.3000
R T R D A N V I I L H A E K E P E F L N p.1000
. . . . . . g.171646
ATTAGCATTCAAGATTCCAGATTATTCTTTCAATTGCAAAGTGGCAACAGCTTTTATATG c.3060
I S I Q D S R L F F Q L Q S G N S F Y M p.1020
. . . . . . g.171706
CTAAGTCTGACAAGTTTGCAGTCAGTGAATGATGGCACATGGCACGAAGTGACCCTTTCC c.3120
L S L T S L Q S V N D G T W H E V T L S p.1040
. . . . . . g.171766
ATGACAGACCCACTGTCCCAGACCTCCAGGTGGCAAATGGAAGTGGACAACGAAACACCT c.3180
M T D P L S Q T S R W Q M E V D N E T P p.1060
. . . . . . g.171826
TTTGTGACCAGCACAATTGCTACTGGAAGCCTCAACTTTTTGAAGGATAATACAGATATT c.3240
F V T S T I A T G S L N F L K D N T D I p.1080
. . . . . . g.171886
TATGTGGGAGACAGAGCTATTGACAATATAAAGGGCCTGCAAGGGTGTCTAAGTACAATA c.3300
Y V G D R A I D N I K G L Q G C L S T I p.1100
. . . . . . g.171946
GAAATCGGAGGCATTTATCTCTCTTACTTTGAAAATGTTCATGGTTTCATTAATAAACCT c.3360
E I G G I Y L S Y F E N V H G F I N K P p.1120
. . . . . . g.172006
CAGGAAGAGCAATTTCTCAAAATCTCTACCAATTCAGTGGTCACTGGCTGTTTGCAGTTA c.3420
Q E E Q F L K I S T N S V V T G C L Q L p.1140
. . . . . . g.172066
AATGTCTGCAACTCCAACCCCTGTTTGCATGGAGGAAACTGTGAAGACATCTATAGCTCT c.3480
N V C N S N P C L H G G N C E D I Y S S p.1160
. . . . . . g.172126
TATCATTGCTCCTGTCCCTTGGGATGGTCAGGGAAACACTGTGAACTCAACATCGATGAA c.3540
Y H C S C P L G W S G K H C E L N I D E p.1180
. . . . . . g.172186
TGCTTTTCAAACCCCTGTATCCATGGCAACTGCTCTGACAGAGTTGCAGCCTACCACTGC c.3600
C F S N P C I H G N C S D R V A A Y H C p.1200
. . . . . . g.172246
ACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTGGATATAGACAACTGCCAGAGT c.3660
T C E P G Y T G V N C E V D I D N C Q S p.1220
. . . . . . g.172306
CACCAGTGTGCAAATGGAGCCACCTGCATTAGTCATACTAATGGCTATTCTTGCCTCTGT c.3720
H Q C A N G A T C I S H T N G Y S C L C p.1240
. . | 10 . . . g.175300
TTTGGAAATTTTACAGGAAAATTTTGCAG | ACAGAGCAGATTACCCTCAACAGTCTGTGGG c.3780
F G N F T G K F C R | Q S R L P S T V C G p.1260
. . . . . . g.175360
AATGAGAAGACAAATCTCACTTGCTACAATGGAGGCAACTGCACAGAGTTCCAGACTGAA c.3840
N E K T N L T C Y N G G N C T E F Q T E p.1280
. . . | 11 . . g.178910
TTAAAATGTATGTGCCGGCCAGGTTTTACTGGAGAATG | GTGTGAAAAGGACATTGATGAG c.3900
L K C M C R P G F T G E W | C E K D I D E p.1300
. . . . . . g.178970
TGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAG c.3960
C A S D P C V N G G L C Q D L L N K F Q p.1320
. . . . | 12 . . g.214401
TGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGAC | TTGGCAGATGACTTG c.4020
C L C D V A F A G E R C E V D | L A D D L p.1340
. . . . . . g.214461
ATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTG c.4080
I S D I F T T I G S V T V A L L L I L L p.1360
. . . . . . g.214521
CTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGC c.4140
L A I V A S V V T S N K R A T Q G T Y S p.1380
. . . . . . g.214581
CCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCT c.4200
P S R Q E K E G S R V E M W N L M P P P p.1400
. . g.214602
GCAATGGAGAGACTGATTTAG c.4221
A M E R L I X p.1406
. . . . . . g.214662
gagcattgtgtcccttcgagatggggatccacacactgtgaatgtgatgactgtacttca c.*60
. . . . . . g.214722
ggtatctctgacatacctgacaatgttaatctgcaactgggattacactggaactacagg c.*120
. . . . . . g.214782
aatgattcctttgaccaccttaaaaactttcacagtggttccgctcgacaccattgtttt c.*180
. . . . . . g.214842
attatattatatcagccaattgcaaaaaaagtctgtgccagtaatttcagccttataatt c.*240
. . . . . . g.214902
agcaaaaacatcttccagagaataaagtcttctgtggctttagtggctatcactgaaact c.*300
. . . . . . g.214962
ctttcctcttttcaacctgggaacaaattttagttttcattttaggtttctgtactttct c.*360
. . . . . . g.215022
gtagtttctgtgtaaactgccatatgtttacatggaaactacaggaaaaaattggctaca c.*420
. . . . . . g.215082
tttctcacttctcctatcatgtggtcaaagttattgttgtataccagcgatgggatgtat c.*480
. . . . . . g.215142
acttttgtccttcattcatggattcagagaaagctctgggaatgacttatggtccaaaaa c.*540
. . . g.215178
agtgacccaatggcaacaaataaaaattgaaatgca c.*576
(downstream sequence)
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