(used for variant description)
(last modified September 8, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_018124.3 in the RFWD3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering RFWD3 transcript NM_018124.3.
(upstream sequence)
. . . g.5038
aagtggcagttggcgtaggtgcattcggagtgcggccg c.-61
. . . . . . | 02 g.10432
aggtaactaccgagtcttcggcgggctcgcgagcccggccgcggcctgctggtttcag | tg c.-1
. . . . . . g.10492
ATGGCTCATGAAGCAATGGAATATGATGTTCAGGTGCAGTTAAATCATGCCGAACAACAG c.60
M A H E A M E Y D V Q V Q L N H A E Q Q p.20
. . . . . . g.10552
CCAGCTCCTGCTGGCATGGCCAGCAGCCAAGGGGGACCAGCCCTCCTCCAGCCTGTTCCT c.120
P A P A G M A S S Q G G P A L L Q P V P p.40
. . . . . . g.10612
GCTGATGTGGTCAGCAGCCAGGGGGTACCATCCATCCTCCAGCCAGCTCCTGCTGAGGTG c.180
A D V V S S Q G V P S I L Q P A P A E V p.60
. . . . . . g.10672
ATCAGCAGCCAAGCGACACCACCCCTGCTCCAGCCTGCTCCGCAACTGTCTGTTGACCTG c.240
I S S Q A T P P L L Q P A P Q L S V D L p.80
. . . . . . g.10732
ACAGAAGTGGAGGTCTTGGGAGAAGACACTGTGGAGAACATCAATCCAAGAACTTCAGAA c.300
T E V E V L G E D T V E N I N P R T S E p.100
. . . . . . g.10792
CAACATAGGCAGGGATCTGATGGTAATCACACCATCCCAGCATCTTCGTTGCATTCAATG c.360
Q H R Q G S D G N H T I P A S S L H S M p.120
. . . . . . g.10852
ACCAACTTCATCAGCGGACTGCAGAGACTTCATGGCATGCTGGAATTCCTGAGACCTTCA c.420
T N F I S G L Q R L H G M L E F L R P S p.140
. . . . . . g.10912
TCTTCAAACCACAGTGTAGGGCCAATGAGAACAAGAAGGAGGGTATCTGCTTCACGGAGG c.480
S S N H S V G P M R T R R R V S A S R R p.160
. . . | 03 . . g.19781
GCAAGAGCCGGAGGGTCTCAGAGGACAGACAGTGCCAG | GTTGAGAGCACCATTGGATGCT c.540
A R A G G S Q R T D S A R | L R A P L D A p.180
. . . . . . g.19841
TACTTTCAGGTGAGCAGGACCCAGCCTGACTTGCCAGCTACCACTTATGATTCAGAGACT c.600
Y F Q V S R T Q P D L P A T T Y D S E T p.200
. . . . . . g.19901
AGGAATCCTGTATCTGAAGAGTTGCAGGTGTCTAGTAGTTCTGATTCTGACAGTGACAGC c.660
R N P V S E E L Q V S S S S D S D S D S p.220
. . . . . . g.19961
TCTGCAGAGTATGGAGGGGTTGTTGACCAGGCAGAGGAATCTGGAGCTGTCATTTTAGAA c.720
S A E Y G G V V D Q A E E S G A V I L E p.240
| 04 . . . . . . g.22738
G | AGCAACTAGCAGGTGTCTCAGCAGAGCAAGAAGTTACATGTATCGATGGAGGCAAGACC c.780
E | Q L A G V S A E Q E V T C I D G G K T p.260
. | 05 . . . . . g.27194
CTCCCCAAACAG | CCATCTCCCCAGAAGTCTGAGCCTCTGCTACCTTCTGCTTCTATGGAT c.840
L P K Q | P S P Q K S E P L L P S A S M D p.280
. . . . . . g.27254
GAGGAAGAAGGGGACACTTGTACAATATGTCTGGAACAGTGGACCAATGCTGGGGACCAC c.900
E E E G D T C T I C L E Q W T N A G D H p.300
. . . . . . g.27314
CGGCTCTCAGCATTACGCTGTGGGCATCTCTTTGGGTATAGGTGCATTTCCACGTGGCTT c.960
R L S A L R C G H L F G Y R C I S T W L p.320
. . | 06. . . . g.27461
AAAGGACAAGTACGAAAATGTCCCCAG | TGCAACAAGAAAGCCAGGCACAGTGACATTGTC c.1020
K G Q V R K C P Q | C N K K A R H S D I V p.340
. . . . . | 07 g.33912
GTCCTTTATGCCCGAACCCTGAGAGCTTTGGACACTAGTGAACAGGAGCGCATGAAAAG | T c.1080
V L Y A R T L R A L D T S E Q E R M K S | p.360
. . . . . . g.33972
TCCCTACTGAAGGAACAGATGCTAAGGAAACAGGCCGAGTTAGAATCAGCACAGTGCCGA c.1140
S L L K E Q M L R K Q A E L E S A Q C R p.380
. . . . . | 08 . g.35310
CTCCAACTGCAGGTCCTCACTGATAAGTGCACTAGGCTTCAAAGGCGTGTTCAG | GACTTG c.1200
L Q L Q V L T D K C T R L Q R R V Q | D L p.400
. . . . . . g.35370
CAAAAACTTACGTCACATCAAAGTCAGAATTTACAGCAACCCAGGGGCTCCCAAGCATGG c.1260
Q K L T S H Q S Q N L Q Q P R G S Q A W p.420
. . . . . . g.35430
GTCCTGAGCTGCTCACCCTCCAGCCAGGGCCAGCACAAGCACAAGTACCACTTCCAAAAG c.1320
V L S C S P S S Q G Q H K H K Y H F Q K p.440
. . . . . . g.35490
ACCTTCACAGTATCTCAGGCAGGAAACTGCCGGATCATGGCATACTGTGATGCTCTGAGC c.1380
T F T V S Q A G N C R I M A Y C D A L S p.460
. . . . | 09 . . g.39222
TGCCTGGTGATATCACAGCCTTCTCCTCAGGCCTCTTTTCTTCCAG | GCTTTGGTGTTAAG c.1440
C L V I S Q P S P Q A S F L P G | F G V K p.480
. . . . . . g.39282
ATGTTGAGTACTGCCAACATGAAGAGCAGTCAGTACATTCCGATGCATGGCAAACAGATC c.1500
M L S T A N M K S S Q Y I P M H G K Q I p.500
. . . . . . g.39342
CGTGGACTGGCGTTTAGCAGTTACCTCAGAGGCTTGCTACTCTCTGCTTCCCTAGACAAC c.1560
R G L A F S S Y L R G L L L S A S L D N p.520
. | 10. . . . . g.40967
ACTATTAAACTGACCAG | CCTGGAGACAAATACCGTGGTCCAGACTTATAATGCTGGACGT c.1620
T I K L T S | L E T N T V V Q T Y N A G R p.540
. . . . . . g.41027
CCTGTCTGGAGCTGTTGCTGGTGTCTTGATGAGGCTAACTACATCTATGCTGGACTGGCC c.1680
P V W S C C W C L D E A N Y I Y A G L A p.560
. . . . . . g.41087
AATGGTTCAATTCTGGTATATGACGTGCGAAACACGAGCAGTCATGTGCAGGAGTTAGTA c.1740
N G S I L V Y D V R N T S S H V Q E L V p.580
. | 11 . . . . . g.43261
GCTCAGAAAGCCAG | ATGCCCACTGGTCTCCCTGTCATACATGCCCAGAGCTGCCTCAGCT c.1800
A Q K A R | C P L V S L S Y M P R A A S A p.600
. . . . . . g.43321
GCATTTCCATATGGTGGGGTGCTGGCTGGAACCTTGGAGGATGCTTCATTCTGGGAACAG c.1860
A F P Y G G V L A G T L E D A S F W E Q p.620
. . . . . . g.43381
AAAATGGACTTTTCTCATTGGCCTCATGTGCTGCCCTTGGAGCCAGGGGGCTGCATAGAC c.1920
K M D F S H W P H V L P L E P G G C I D p.640
. . . . | 12 . g.45338
TTTCAGACAGAGAACAGCTCCCGGCACTGTCTTGTGACCTACAGGCCTG | ATAAAAATCAC c.1980
F Q T E N S S R H C L V T Y R P D | K N H p.660
. . . . . . g.45398
ACCACCATACGAAGTGTGCTGATGGAAATGTCCTACCGACTGGATGACACTGGAAATCCA c.2040
T T I R S V L M E M S Y R L D D T G N P p.680
. . . . . . g.45458
ATCTGCTCCTGCCAGCCTGTACATACATTTTTTGGAGGACCTACTTGCAAACTATTGACC c.2100
I C S C Q P V H T F F G G P T C K L L T p.700
. . . . . . g.45518
AAAAATGCCATTTTCCAAAGCCCAGAGAATGATGGCAACATCCTGGTGTGTACTGGGGAT c.2160
K N A I F Q S P E N D G N I L V C T G D p.720
. . | 13 . . . . g.47849
GAAGCAGCAAATTCTGCCCTG | CTGTGGGATGCTGCCAGTGGCTCGTTGCTCCAGGACCTA c.2220
E A A N S A L | L W D A A S G S L L Q D L p.740
. . . . . . g.47909
CAGACCGATCAGCCTGTGTTGGACATCTGCCCATTTGAGGTGAACCGTAACAGCTACTTG c.2280
Q T D Q P V L D I C P F E V N R N S Y L p.760
. . . . g.47954
GCTACCTTAACAGAGAAGATGGTCCACATCTATAAGTGGGAGTGA c.2325
A T L T E K M V H I Y K W E X p.774
. . . . . . g.48014
ctgtggtctcgaaaccttgaaggcatgctgctggttagatgttgtttgctagcgcctagc c.*60
. . . . . . g.48074
agccccaagcaagatccctgtttattgtctgcagtctagaacattgggaatcatggtttg c.*120
. . . . . . g.48134
tttgcattagtatgattctaggaccctaggtcactgagacactacagattgtgtatctgt c.*180
. . . . . . g.48194
tatgtccactaaaagagtaattgatgggtactttatctacattatccatttcttgggttt c.*240
. . . . . . g.48254
aaagccttcattaaccattattgtatgttggaaattcttattttctttattttctgtgtg c.*300
. . . . . . g.48314
actttctggaccttagagagtgtcctctcatcatctaggatgtgagtgggcatcaagcat c.*360
. . . . . . g.48374
tttctggggaatatgacatcccatctgagttgtcctgtcacttaagtatccttgaaggga c.*420
. . . . . . g.48434
ctaaccatcgtcttggtactgatttgatgcaacgtagatgtaaaagagtattattcagtt c.*480
. . . . . . g.48494
gaacacaagagggcactgtagaaccttgtgtccggtttatttctgaccttgaaggctgac c.*540
. . . . . . g.48554
aatcttttagtaacttgtctcatctccacacaagtgtgtgatagcacacctgggtgtgct c.*600
. . . . . . g.48614
ttgtggcaataacacttgtgttccaggtgtgaagtgctgggacattggcaggcccagtga c.*660
. . . . . . g.48674
tggaagcagctagtgaacgattccctttgctaatgcctagtgcattaagttcattgcttt c.*720
. . . . . . g.48734
gcgaaaggtaaggaaagaggccagttgtttgagcggtggggaagattttgttttttctag c.*780
. . . . . . g.48794
ccagcttaggatctcaggattggttttatccaagctagtgctttgaagaacactatctct c.*840
. . . . . . g.48854
tgccaggaaaagatgagtgataggtcaaagcttttacttgagtctcccctagtgtcagag c.*900
. . . . . . g.48914
atcaggagaaaagacataagagaatttacaaaagctattcagactgctattgaaaacatg c.*960
. . . . . . g.48974
agaagaacttgtctcccattttgagagttcctatctaaataaagccaattcctcagactg c.*1020
. . . . . . g.49034
aggggctgttcttaagtgttctttatacattccagttatccagttaaagccttccccatg c.*1080
. . . . . . g.49094
tgaagctgatgtttgattccagtttcctttgatttgcctccctaaccttttctagggctc c.*1140
. . . . . . g.49154
agtttgtatttctttgccttgcctcagactactttgccaacccacttccacaacagaata c.*1200
. . . . . . g.49214
tgcttcaagatgtgggcaggtcagtgtcctgttcatgggagaaaatggcttaacagtctg c.*1260
. . . . . . g.49274
attttctcaaatgattattgaagagttgttatcgtttttattataaaacacttctgacct c.*1320
. . . . . . g.49334
gtcaattcaagagctgtttctaggatctttctctccggcaaggggttgttgcactagatt c.*1380
. . . . . . g.49394
tccccagagttccaagttctagttgtgccttttaatgaccctttaatattttaggacata c.*1440
. . . . . . g.49454
attttttccttttttaaatttttttgtagaaatagatgtttcactacgttgtccaggctg c.*1500
. . . . . . g.49514
gtcttggactcctggcctcaagcaatcctcccacctcagcctcctaaagtgccaaaatta c.*1560
. . . . . . g.49574
taggcgtgagccactgcacccggcccctatttgaagacgtcttttgtaaaagctagcttc c.*1620
. . . . . . g.49634
tagaacctgagaaaagctcttttctcagaggagatactccttttgatatgttaatgatta c.*1680
. . . . . . g.49694
agagtggttgcccaggcctagtttcagtggcagaataggattggaattaaaaagcagaac c.*1740
. . . . . . g.49754
tcatctggcttcagcagattgccaccaagaggatacaggtggtcaggtcctggctggctt c.*1800
. . . . . . g.49814
tgtctttgggcctgggcaggcttaggatttgactttctttgaagtacctgatgctgattg c.*1860
. . . . . . g.49874
attccactaatagtaggaagcaagagacttaactatgagggacgttatgtgaatcttaag c.*1920
. . . . . . g.49934
tcttaccagtccttgcattagtacattaaatttggatgttttggaagcaaattcatacga c.*1980
. . . . . . g.49994
tcgtgagtgatttctccaaagaaaaaaagccttgtccagcctgaccaacatggtgaaacc c.*2040
. . . . . . g.50054
ccatctctactaaaaatacaaaaattaactgggtgcagtggtgcgcatgcctgtagtccc c.*2100
. . . . . . g.50114
agctacttgggaggctgaggcaggagaattgcttgaaccctgggaggcagaggttgcagt c.*2160
. . . . . . g.50174
gagtcgagatcgcgccactgcactccagcctcggtgacagagcaagactccatctcaaaa c.*2220
. . . . . . g.50234
aaaacaaacaaacaaaaaaaaaccctgatgccattcccagtccccgttgtaggacatcac c.*2280
. . . . . . g.50294
atttataaatccaggctttagtcttctgggctccaccagtctctgccccaccatattcct c.*2340
. . . . . . g.50354
ttgtcactacctctaagtttttttccccacttgaggatttggagttaaacgaactcaaaa c.*2400
. . . . . . g.50414
tgtcttgtcattgtatgtattcttgcccctgctttgaaaacagggccatgggaactctgt c.*2460
. . . . . . g.50474
ttatgccctgttttaatgtttctgttttatgttttactgttaatatgaaaataaagaatt c.*2520
g.50483
tgctatgta c.*2529
(downstream sequence)
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