(used for variant description)
(last modified March 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_052859.3 in the RFT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009203.1, covering RFT1 transcript NM_052859.3.
(upstream sequence)
. . . . . g.5054
gactaaacggagtggcggcggcatttcctggtgtctgagcctggcgcggaggct c.-1
. . . . . . g.5114
ATGGGCAGCCAGGAGGTGCTGGGCCACGCGGCCCGGCTGGCCTCCTCCGGTCTCCTCCTG c.60
M G S Q E V L G H A A R L A S S G L L L p.20
| 02 . . . . . . g.9517
CAG | GTGTTGTTTCGGTTGATCACCTTTGTCTTGAATGCATTTATTCTTCGCTTCCTGTCA c.120
Q | V L F R L I T F V L N A F I L R F L S p.40
. . | 03 . . . g.11645
AAGGAAATCGTTGGCGTAGTAAATGTAAG | ACTAACGCTGCTTTACTCAACCACCCTCTTC c.180
K E I V G V V N V R | L T L L Y S T T L F p.60
. . . . . . g.11705
CTGGCCAGAGAGGCCTTCCGCAGAGCATGTCTCAGTGGGGGCACCCAGCGAGACTGGAGC c.240
L A R E A F R R A C L S G G T Q R D W S p.80
. . | 04 . . . . g.12925
CAGACCCTCAACCTGCTGTGGCTAAC | AGTCCCCCTGGGTGTGTTTTGGTCCTTATTCCTG c.300
Q T L N L L W L T | V P L G V F W S L F L p.100
. . . . . . g.12985
GGCTGGATCTGGTTGCAGCTGCTTGAAGTGCCTGATCCTAATGTTGTCCCTCACTATGCA c.360
G W I W L Q L L E V P D P N V V P H Y A p.120
. . . . . . g.13045
ACTGGAGTGGTGCTGTTTGGTCTCTCGGCAGTGGTGGAGCTTCTAGGAGAGCCCTTTTGG c.420
T G V V L F G L S A V V E L L G E P F W p.140
. . . | 05 . . . g.13678
GTCTTGGCACAAGCACATATGTTTGTGAAGCTCAAG | GTGATTGCAGAGAGCCTGTCGGTA c.480
V L A Q A H M F V K L K | V I A E S L S V p.160
. . . . . . g.13738
ATTCTTAAGAGCGTTCTGACAGCTTTTCTCGTGCTGTGGTTGCCTCACTGGGGATTGTAC c.540
I L K S V L T A F L V L W L P H W G L Y p.180
. | 06 . . . . g.15475
ATTTTCTCTTTGGCCCAG | CTTTTCTATACCACAGTTCTGGTGCTCTGCTATGTTATTTAT c.600
I F S L A Q | L F Y T T V L V L C Y V I Y p.200
. . . . . . g.15535
TTCACAAAGTTACTGGGTTCCCCAGAATCAACCAAGCTTCAAACTCTTCCTGTCTCCAGA c.660
F T K L L G S P E S T K L Q T L P V S R p.220
. . . | 07 . . . g.23570
ATAACAGATCTGTTACCCAATATTACAAGAAATGGA | GCGTTTATAAACTGGAAAGAGGCT c.720
I T D L L P N I T R N G | A F I N W K E A p.240
. . . . . | 08 . g.28590
AAACTGACTTGGAGTTTTTTCAAACAGTCTTTCTTGAAACAGATTTTGACAGAAG | GCGAG c.780
K L T W S F F K Q S F L K Q I L T E G | E p.260
. . . . | 09 . . g.29665
CGATATGTGATGACATTTTTGAATGTATTGAACTTTGGTGATCAGG | GTGTGTATGATATA c.840
R Y V M T F L N V L N F G D Q G | V Y D I p.280
. . . . . . g.29725
GTGAATAATCTTGGCTCCCTTGTGGCCAGATTAATTTTCCAGCCAATAGAGGAAAGTTTT c.900
V N N L G S L V A R L I F Q P I E E S F p.300
. . . . . | 10. g.31360
TATATATTTTTTGCTAAGGTGCTGGAGAGGGGAAAGGATGCCACACTTCAGAAGCAG | GAG c.960
Y I F F A K V L E R G K D A T L Q K Q | E p.320
. . . . . . g.31420
GACGTTGCTGTGGCTGCTGCAGTCTTGGAGTCCCTGCTCAAGCTGGCCCTGCTGGCCGGC c.1020
D V A V A A A V L E S L L K L A L L A G p.340
. . . . . . g.31480
CTGACCATCACTGTTTTTGGCTTTGCCTATTCTCAGCTGGCTCTGGATATCTACGGAGGG c.1080
L T I T V F G F A Y S Q L A L D I Y G G p.360
. . | 11 . . . . g.36006
ACCATGCTTAGCTCAGGATCCG | GTCCTGTTTTGCTGCGTTCCTACTGTCTCTATGTTCTC c.1140
T M L S S G S G | P V L L R S Y C L Y V L p.380
. . . . . . g.36066
CTGCTTGCCATCAATGGAGTGACAGAGTGTTTCACATTTGCTGCCATGAGCAAAGAGGAG c.1200
L L A I N G V T E C F T F A A M S K E E p.400
| 12 . . . . . g.42888
GTCGACAG | GTACAATTTTGTGATGCTGGCCCTGTCCTCCTCATTCCTGGTGTTATCCTAT c.1260
V D R | Y N F V M L A L S S S F L V L S Y p.420
. . . . . . g.42948
CTCTTGACCCGTTGGTGTGGCAGCGTGGGCTTCATCTTGGCCAACTGCTTTAACATGGGC c.1320
L L T R W C G S V G F I L A N C F N M G p.440
. . . . . . g.43008
ATTCGGATCACGCAGAGCCTTTGCTTCATCCACCGCTACTACCGAAGGAGCCCCCACAGG c.1380
I R I T Q S L C F I H R Y Y R R S P H R p.460
. . . . . . g.43068
CCCCTGGCTGGCCTGCACCTATCGCCAGTCCTGCTCGGGACATTTGCCCTCAGTGGTGGG c.1440
P L A G L H L S P V L L G T F A L S G G p.480
. | 13 . . . . g.43426
GTTACTGCTGTTTCGGAG | GTATTCCTCTGCTGTGAGCAGGGCTGGCCAGCCAGACTGGCA c.1500
V T A V S E | V F L C C E Q G W P A R L A p.500
. . . . . . g.43486
CACATTGCTGTGGGGGCCTTCTGTCTGGGAGCAACTCTCGGGACAGCATTCCTCACAGAG c.1560
H I A V G A F C L G A T L G T A F L T E p.520
. . . . . . g.43546
ACCAAGCTGATCCATTTCCTCAGGACTCAGTTAGGTGTGCCCAGACGCACTGACAAAATG c.1620
T K L I H F L R T Q L G V P R R T D K M p.540
g.43552
ACATGA c.1626
T X p.541
. . . . . . g.43612
cttcagggaagcctggacacccgaggcacctggaccagctatgggtagttctgtgggtgg c.*60
. . . . . . g.43672
aacacattctgtgtaagagccccactgagggctctgcagcggagtgacagcaaccccaga c.*120
. . . . . . g.43732
gatgaggcaccagagagtgccactgcatgagacacctgtgaccattcgaagtctgaaatg c.*180
. . . . . . g.43792
cggggggggagtttcatttttaagtgaagaccaaaagccctttaaaaataatagtttttt c.*240
. . . . . . g.43852
atcattttatagtaatcagcattttctcttttactaatatactcattccttttgcgtatg c.*300
. . . . . . g.43912
attggcctttggagctacatgctccaacaaactatatcttaattgttaactgttaataat c.*360
. . . . . . g.43972
tatctggcccagaaaaagagatgcagtgattttacccttcacaggaatattgaacttctt c.*420
. . . . . . g.44032
ctgtaaaagagagagagaaacctctctctctcatgcaccacatggaaacagagtgtggcc c.*480
. . . . . . g.44092
ctgaagttgtggctttctttgtgtcaaaactgtggtctgagtttttagagaaggaaaaat c.*540
. . . . . . g.44152
gctactcagtgagaaatccaagaaatgaaaccaggaaggttttcagatcacatttcccag c.*600
. . . . . . g.44212
agtgagttcgggagaatcttgcctgtcgtgatcacactgttccccgccgccccaggtcag c.*660
. . . . . . g.44272
cacatacttgacccagagtgggctctcaggatttgttgattgaagggtgggtgaaagctg c.*720
. . . . . . g.44332
gctggagactcctggcctggccacctgcaagaggcggactttgaagaaaactgtgatcca c.*780
. . . . . . g.44392
gttgagccactttgtccctgaggggaatgctgctttgcagctttctgtaacttctcacat c.*840
. . . . . . g.44452
gggaattgcactggtgacagataaggtttaacagatgtacttttttatcctcagaataag c.*900
. . . . . . g.44512
acaaggcaaactctatatggctagtattactgagtcaggtccctcccgttgacccattaa c.*960
. . . . . . g.44572
ttccagcattgatcaatacaaccaaattccagccccaggacaagagtggcaggcatgggg c.*1020
. . . . . . g.44632
gcctggtactccaggctacagtgtgagcccaggtgttctgcaccttgcagcctgcacact c.*1080
. . . . . . g.44692
gcaggtgaaatcatgagcagtgttctggagtgtgaagtgtttttatttttttgttaatgt c.*1140
. . . . . . g.44752
attaattccttttagatattaacccccctcagaactatatgcacaaactataacttggat c.*1200
. . . . . . g.44812
gttaataatcctgtcactcagtgccccaaaccttctgtgtctacacctagagagagggcc c.*1260
. . . . . . g.44872
agtaagggcaactcctatcatgcattaaaatgcatgtatttaaatctgcttgcccagagc c.*1320
. . . . . . g.44932
cagtacccaggggctaaggattaagacctgtcagtacaccaagactggggcccagtcacc c.*1380
. . . . . . g.44992
tggcaggtttttatctactcagagggagaatgctttgcactaagtgggagaaaagcagct c.*1440
. . . . . . g.45052
aaatgcaaggtgtcctgagcaattagaggacctccaaagcatggcctcagtcatgccttc c.*1500
. . . . . . g.45112
atcgggcaaggtcaggccagctcagaaaaatggatggtcccatagggtcaagtggagcac c.*1560
. . . . . . g.45172
acacggaaggcagtcctccttccctcccatgtcctttctctgtccctggcatccacagaa c.*1620
. . . . . . g.45232
agggaccttcagtcctcatgagctgcttctctgcagctgctgatcaccctcccggaaccc c.*1680
. . . . . . g.45292
tgcacctatcccgtgcccacctgaccccagactcaagcatgatcctcattctacctgcct c.*1740
. . . . . . g.45352
cggaatcacctggattgcaagtcagaacatggcttcccaggacccactccaggccttcag c.*1800
. . . . . . g.45412
ggtctgtgtctcccaggaggagggctctgagattggcttttctggcaagcccacgtggct c.*1860
. . . . . . g.45472
ttgatgccaccaaggttggcatgccccattgtcttccttcgtgacaggcccaggaccatc c.*1920
. . . . . . g.45532
atgctcatgctcacagtgcctgttctctgctccaggaacagagctgctgctctacaagca c.*1980
. . . . . . g.45592
gccttgtgactccggggtctctgggagcaggactccccaggcttgtgctctctcagcttg c.*2040
. . . . . . g.45652
agagaggctctatgtctgaaggcagtgctcactctctcatccctcccctgctgttcgccc c.*2100
. . . . . . g.45712
agtgctgctgtcagggccagctcctcttgaaagacagccagccgcaaaggcagcccaggg c.*2160
. . . . . . g.45772
cttcttccggtgtcctgcttccctgtatctagggagagttgtacatgtggctgcgtgttt c.*2220
. . . . . . g.45832
tcccaggactagccctgccgcctgggctgtcagcactttggcagcaggtcctctgtggtt c.*2280
. . . . . . g.45892
ctctgcctctggtgcctccctaaagctcagctggacctgaccaggcctctggcatttccc c.*2340
. . . . . . g.45952
ctgctggaccccctagagccacagctgtgcctcagggagcttgcatacatgtgggccagc c.*2400
. . . . . . g.46012
ctgcctcactttacccaagtggatttggggagcagaaatcatacttttggctttcaatac c.*2460
. . . . . . g.46072
cacttatagtgaggctacttctccatggaaacaagtctctgaggcacaacctttatgaaa c.*2520
. . . . . . g.46132
ggaaggagcattcgttggtgagaagaacagtatcgctgacttcctgtgctcctctggcca c.*2580
. . . . . . g.46192
caggtaactgttggtcacttcagatttggcttggggtctctcagtgaggagctgctgctg c.*2640
. . . . . . g.46252
tgctgtttaatgcttacctgatggcaacttctggctctggaaccgctactctgccctgtt c.*2700
. . . . . . g.46312
cccagccacttcccaacctgattcaagcagggcccctccttcctcctgtctttatttatt c.*2760
. . . . . . g.46372
tatttattgagacagagtctcactctgtcgcccaggctggagtgcagtagcgcgatctcg c.*2820
. . . . . . g.46432
gctcactgcgagctctgcctcctgggttcaagcgattctcttgcctcagcctcctgagta c.*2880
. . . . . . g.46492
gctggggctacaggcgcctgccaccacacccggctaatttttgtatttttagtagagaca c.*2940
. . . . . . g.46552
gggtttcaccatattggccaggctggtcttgaactcctgaccttgtgatccgcccgcctc c.*3000
. . . . . . g.46612
agcctcccaaagtgctgggattacaggcgtgagccaccgctcctggcctattcttttctt c.*3060
. . . . . . g.46672
ttcagagacaaggtctcactctctcctctcgcccaggctggagtgcagtggtgtcatcat c.*3120
. . . . . . g.46732
agctcattgcagcctcaaactcctgggctcaagcaatcctcccacctcagcctcctgagt c.*3180
. . . . . . g.46792
agctgggatcacaggtgtgtgctacctcacccagctaatttctaatttttttttgtagag c.*3240
. . . . . . g.46852
actggatctcactgttgccttgaactcctgggctcaagtgatcctcctgcctcagcctcc c.*3300
. . . . . . g.46912
caaagtgctgggattccagaccagccattttttttccttaatcatgcattcctgttgcta c.*3360
. . . . . . g.46972
gtttcacatcagtcccctggtttaataagaaataaaatattttcttcacacttttgaaaa c.*3420
(downstream sequence)
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