(used for variant description)
(last modified February 1, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_002900.2 in the RBP3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029718.1, covering RBP3 transcript NM_002900.2.
(upstream sequence)
. . . . . g.5054
tgtccaccagctgagaaggacaagggcggaaggcagctgcacagagcagggcca c.-61
. . . . . . g.5114
cggccttgcacacagtccagggagcttttgtgcaggagccaggcctccccctgggtcccc c.-1
. . . . . . g.5174
ATGATGAGAGAATGGGTTCTGCTCATGTCCGTGCTGCTCTGTGGCCTGGCTGGCCCCACA c.60
M M R E W V L L M S V L L C G L A G P T p.20
. . . . . . g.5234
CACCTGTTCCAGCCAAGCCTGGTGCTGGACATGGCCAAGGTCCTCTTGGATAACTACTGC c.120
H L F Q P S L V L D M A K V L L D N Y C p.40
. . . . . . g.5294
TTCCCGGAGAACCTGCTGGGCATGCAGGAAGCCATCCAGCAGGCCATCAAGAGCCATGAG c.180
F P E N L L G M Q E A I Q Q A I K S H E p.60
. . . . . . g.5354
ATTCTGAGCATCTCAGACCCGCAGACGCTGGCCAGTGTGCTGACAGCCGGGGTGCAGAGC c.240
I L S I S D P Q T L A S V L T A G V Q S p.80
. . . . . . g.5414
TCCCTGAACGATCCTCGCCTGGTCATCTCCTATGAGCCCAGCACCCCCGAGCCTCCCCCA c.300
S L N D P R L V I S Y E P S T P E P P P p.100
. . . . . . g.5474
CAAGTCCCAGCACTCACCAGCCTCTCAGAAGAGGAACTGCTTGCCTGGCTGCAAAGGGGC c.360
Q V P A L T S L S E E E L L A W L Q R G p.120
. . . . . . g.5534
CTCCGCCATGAGGTTCTGGAGGGTAATGTGGGCTACCTGCGGGTGGACAGCGTCCCGGGC c.420
L R H E V L E G N V G Y L R V D S V P G p.140
. . . . . . g.5594
CAGGAGGTGCTGAGCATGATGGGGGAGTTCCTGGTGGCCCACGTGTGGGGGAATCTCATG c.480
Q E V L S M M G E F L V A H V W G N L M p.160
. . . . . . g.5654
GGCACCTCCGCCTTAGTGCTGGATCTCCGGCACTGCACAGGAGGCCAGGTCTCTGGCATT c.540
G T S A L V L D L R H C T G G Q V S G I p.180
. . . . . . g.5714
CCCTACATCATCTCCTACCTGCACCCAGGGAACACCATCCTGCACGTGGACACTATCTAC c.600
P Y I I S Y L H P G N T I L H V D T I Y p.200
. . . . . . g.5774
AACCGCCCCTCCAACACCACCACGGAGATCTGGACCTTGCCCCAGGTCCTGGGAGAAAGG c.660
N R P S N T T T E I W T L P Q V L G E R p.220
. . . . . . g.5834
TACGGTGCCGACAAGGATGTGGTGGTCCTCACCAGCAGCCAGACCAGGGGCGTGGCCGAG c.720
Y G A D K D V V V L T S S Q T R G V A E p.240
. . . . . . g.5894
GACATCGCGCACATCCTTAAGCAGATGCGCAGGGCCATCGTGGTGGGCGAGCGGACTGGG c.780
D I A H I L K Q M R R A I V V G E R T G p.260
. . . . . . g.5954
GGAGGGGCCCTGGACCTCCGGAAGCTGAGGATAGGCGAGTCTGACTTCTTCTTCACGGTG c.840
G G A L D L R K L R I G E S D F F F T V p.280
. . . . . . g.6014
CCCGTGTCCAGGTCCCTGGGGCCCCTTGGTGGAGGCAGCCAGACGTGGGAGGGCAGCGGG c.900
P V S R S L G P L G G G S Q T W E G S G p.300
. . . . . . g.6074
GTGCTGCCCTGTGTGGGGACTCCGGCCGAGCAGGCCCTGGAGAAAGCCCTGGCCATCCTC c.960
V L P C V G T P A E Q A L E K A L A I L p.320
. . . . . . g.6134
ACTCTGCGCAGCGCCCTTCCAGGGGTAGTCCACTGCCTCCAGGAGGTCCTGAAGGACTAC c.1020
T L R S A L P G V V H C L Q E V L K D Y p.340
. . . . . . g.6194
TACACGCTGGTGGACCGTGTGCCCACCCTGCTGCAGCACTTGGCCAGCATGGACTTCTCC c.1080
Y T L V D R V P T L L Q H L A S M D F S p.360
. . . . . . g.6254
ACGGTGGTCTCCGAGGAAGATCTGGTCACCAAGCTCAATGCCGGCCTGCAGGCTGCGTCT c.1140
T V V S E E D L V T K L N A G L Q A A S p.380
. . . . . . g.6314
GAGGATCCCAGGCTCCTGGTGCGAGCCATCGGGCCCACAGAAACTCCTTCTTGGCCCGCG c.1200
E D P R L L V R A I G P T E T P S W P A p.400
. . . . . . g.6374
CCCGACGCTGCAGCCGAAGACTCACCAGGGGTGGCCCCAGAGTTGCCTGAGGACGAGGCT c.1260
P D A A A E D S P G V A P E L P E D E A p.420
. . . . . . g.6434
ATCCGGCAAGCACTGGTGGACTCTGTGTTCCAGGTGTCGGTGCTGCCAGGCAATGTGGGC c.1320
I R Q A L V D S V F Q V S V L P G N V G p.440
. . . . . . g.6494
TACCTGCGCTTCGATAGTTTTGCTGACGCCTCCGTCCTGGGTGTGTTGGCCCCATATGTC c.1380
Y L R F D S F A D A S V L G V L A P Y V p.460
. . . . . . g.6554
CTGCGCCAGGTGTGGGAGCCGCTACAGGACACGGAGCACCTCATCATGGACCTGCGCCAC c.1440
L R Q V W E P L Q D T E H L I M D L R H p.480
. . . . . . g.6614
AACCCTGGAGGGCCATCCTCTGCTGTGCCCCTGCTCCTGTCCTACTTCCAGGGCCCTGAG c.1500
N P G G P S S A V P L L L S Y F Q G P E p.500
. . . . . . g.6674
GCCGGCCCCGTGCACCTCTTCACCACCTATGATCGCCGCACCAACATCACGCAGGAGCAC c.1560
A G P V H L F T T Y D R R T N I T Q E H p.520
. . . . . . g.6734
TTCAGCCACATGGAGCTCCCGGGCCCACGCTACAGCACCCAACGTGGGGTGTATCTGCTC c.1620
F S H M E L P G P R Y S T Q R G V Y L L p.540
. . . . . . g.6794
ACCAGCCACCGCACCGCCACGGCCGCGGAGGAGTTCGCCTTCCTTATGCAGTCGCTGGGC c.1680
T S H R T A T A A E E F A F L M Q S L G p.560
. . . . . . g.6854
TGGGCCACACTGGTAGGTGAGATCACCGCGGGCAACCTGCTGCACACCCGCACGGTGCCG c.1740
W A T L V G E I T A G N L L H T R T V P p.580
. . . . . . g.6914
CTGCTGGACACACCCGAAGGCAGCCTCGCGCTCACCGTGCCGGTCCTCACCTTCATCGAC c.1800
L L D T P E G S L A L T V P V L T F I D p.600
. . . . . . g.6974
AATCACGGCGAGGCCTGGCTGGGTGGTGGAGTGGTGCCCGATGCCATCGTGCTGGCCGAG c.1860
N H G E A W L G G G V V P D A I V L A E p.620
. . . . . . g.7034
GAGGCCCTGGACAAAGCCCAGGAAGTGCTGGAGTTCCACCAAAGCCTGGGGGCCTTGGTG c.1920
E A L D K A Q E V L E F H Q S L G A L V p.640
. . . . . . g.7094
GAGGGCACAGGGCACCTGCTGGAGGCCCACTATGCTCGGCCAGAGGTCGTGGGGCAGACC c.1980
E G T G H L L E A H Y A R P E V V G Q T p.660
. . . . . . g.7154
AGTGCCCTCCTGCGGGCCAAGCTGGCCCAGGGCGCCTACCGCACAGCTGTGGACTTGGAG c.2040
S A L L R A K L A Q G A Y R T A V D L E p.680
. . . . . . g.7214
TCTCTGGCCTCTCAGCTCACAGCAGACCTCCAGGAGGTGTCTGGGGACCACCGCTTGCTA c.2100
S L A S Q L T A D L Q E V S G D H R L L p.700
. . . . . . g.7274
GTGTTCCACAGCCCTGGCGAGCTGGTGGTAGAGGAAGCACCCCCACCACCCCCTGCTGTC c.2160
V F H S P G E L V V E E A P P P P P A V p.720
. . . . . . g.7334
CCCTCTCCAGAGGAGCTCACCTACCTTATTGAGGCCCTGTTCAAGACAGAGGTGCTGCCC c.2220
P S P E E L T Y L I E A L F K T E V L P p.740
. . . . . . g.7394
GGCCAGCTGGGCTACCTGCGTTTTGACGCCATGGCTGAACTGGAGACAGTGAAGGCCGTG c.2280
G Q L G Y L R F D A M A E L E T V K A V p.760
. . . . . . g.7454
GGGCCACAGCTGGTGCGGCTGGTATGGCAACAGCTGGTGGACACGGCTGCGCTGGTGATC c.2340
G P Q L V R L V W Q Q L V D T A A L V I p.780
. . . . . . g.7514
GACCTGCGCTACAACCCTGGCAGCTACTCCACGGCCATCCCGCTGCTCTGCTCCTACTTC c.2400
D L R Y N P G S Y S T A I P L L C S Y F p.800
. . . . . . g.7574
TTTGAGGCAGAGCCCCGCCAGCACCTGTATTCTGTCTTTGACAGGGCCACCTCAAAAGTC c.2460
F E A E P R Q H L Y S V F D R A T S K V p.820
. . . . . . g.7634
ACGGAGGTGTGGACCTTGCCCCAGGTCGCCGGCCAGCGCTACGGCTCACACAAGGACCTC c.2520
T E V W T L P Q V A G Q R Y G S H K D L p.840
. . . . . . g.7694
TACATCCTGATGAGCCACACCAGTGGCTCTGCGGCCGAGGCCTTTGCACACACCATGCAG c.2580
Y I L M S H T S G S A A E A F A H T M Q p.860
. . . . . . g.7754
GACCTGCAGCGGGCCACGGTCATTGGGGAGCCCACGGCCGGAGGCGCACTCTCTGTGGGC c.2640
D L Q R A T V I G E P T A G G A L S V G p.880
. . . . . . g.7814
ATCTACCAGGTGGGCAGCAGCCCCTTATATGCATCCATGCCCACCCAGATGGCCATGAGT c.2700
I Y Q V G S S P L Y A S M P T Q M A M S p.900
. . . . . . g.7874
GCCACCACAGGCAAGGCCTGGGACCTGGCTGGTGTGGAGCCCGACATCACTGTGCCCATG c.2760
A T T G K A W D L A G V E P D I T V P M p.920
. . . . . . g.7934
AGCGAAGCCCTTTCCATAGCCCAGGACATAGTGGCTCTGCGTGCCAAGGTGCCCACGGTG c.2820
S E A L S I A Q D I V A L R A K V P T V p.940
. . . . . . g.7994
CTGCAGACGGCCGGGAAGCTGGTGGCTGATAACTATGCCTCTGCCGAGCTGGGGGCCAAG c.2880
L Q T A G K L V A D N Y A S A E L G A K p.960
. . . . . . g.8054
ATGGCCACCAAACTGAGCGGTCTGCAGAGCCGCTACTCCAGGGTGACCTCAGAAGTGGCC c.2940
M A T K L S G L Q S R Y S R V T S E V A p.980
. . . . . . g.8114
CTAGCCGAGATCCTGGGGGCTGACCTGCAGATGCTCTCCGGAGACCCACACCTGAAGGCA c.3000
L A E I L G A D L Q M L S G D P H L K A p.1000
. . . . . | 02 . g.9960
GCCCATATCCCTGAGAATGCCAAGGACCGCATTCCTGGAATTGTGCCCATGCAG | ATCCCT c.3060
A H I P E N A K D R I P G I V P M Q | I P p.1020
. . . . . . g.10020
TCCCCTGAAGTATTTGAAGAGCTGATCAAGTTTTCCTTCCACACTAACGTGCTTGAGGAC c.3120
S P E V F E E L I K F S F H T N V L E D p.1040
. . . . . . g.10080
AACATTGGCTACTTGAGGTTTGACATGTTTGGGGACGGTGAGCTGCTCACCCAGGTCTCC c.3180
N I G Y L R F D M F G D G E L L T Q V S p.1060
. . . . . . g.10140
AGGCTGCTGGTGGAGCACATCTGGAAGAAGATCATGCACACGGATGCCATGATCATCGAC c.3240
R L L V E H I W K K I M H T D A M I I D p.1080
| 03 . . . . . . g.12060
ATGAG | GTTCAACATCGGTGGCCCCACATCCTCCATTCCCATCTTGTGCTCCTACTTCTTT c.3300
M R | F N I G G P T S S I P I L C S Y F F p.1100
. . . . . . g.12120
GATGAAGGCCCTCCAGTTCTGCTGGACAAGATCTACAGCCGGCCTGATGACTCTGTCAGT c.3360
D E G P P V L L D K I Y S R P D D S V S p.1120
. . | 04 . . . g.13763
GAACTCTGGACACACGCCCAGGTTGTAG | GTGAACGCTATGGCTCCAAGAAGAGCATGGTC c.3420
E L W T H A Q V V G | E R Y G S K K S M V p.1140
. . . . . . g.13823
ATTCTGACCAGCAGTGTGACGGCCGGCACCGCGGAGGAGTTCACCTATATCATGAAGAGG c.3480
I L T S S V T A G T A E E F T Y I M K R p.1160
. . . . . . g.13883
CTGGGCCGGGCCCTGGTCATTGGGGAGGTGACCAGTGGGGGCTGCCAGCCACCACAGACC c.3540
L G R A L V I G E V T S G G C Q P P Q T p.1180
. . . . . . g.13943
TACCACGTGGATGACACCAACCTCTACCTCACTATCCCCACGGCCCGTTCTGTGGGGGCC c.3600
Y H V D D T N L Y L T I P T A R S V G A p.1200
. . . . . . g.14003
TCGGATGGCAGCTCCTGGGAAGGGGTGGGGGTGACACCCCATGTGGTTGTCCCTGCAGAA c.3660
S D G S S W E G V G V T P H V V V P A E p.1220
. . . . . . g.14063
GAGGCTCTCGCCAGGGCCAAGGAGATGCTCCAGCACAACCAGCTGAGGGTGAAGCGGAGC c.3720
E A L A R A K E M L Q H N Q L R V K R S p.1240
. . g.14087
CCAGGCCTGCAGGACCACCTGTAG c.3744
P G L Q D H L X p.1247
. . . . . . g.14147
ggaagggccccataggcagagccccagggcagacagaacctctgggacacacaccaaggg c.*60
. . . . . . g.14207
cactcctgcaggtggcccggcctgaggttcccaggagcagcaaaggggcctgctgagctc c.*120
. . . . . . g.14267
tggttaggttacagctggaggtgtgtatatatacacacacacacatgtatatacacatat c.*180
. . . . . . g.14327
atatgtgtatgtatatatatgtatatatatatggctttccaataaccacctaaattttaa c.*240
. . . . . . g.14387
caaaggttccttctaagtggtagaacttggggtggtatttttaccttccttcttcatact c.*300
. . . . . . g.14447
ttgctctttttcttaaatactcattaatgtgcatatatcattattttcagatgcagctat c.*360
. . . . . g.14505
cattattccaaaatacaaaataaagaagataaaataaattatatacccgagccattaa c.*418
(downstream sequence)
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