(used for variant description)
(last modified September 2, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_003227.3 in the TFR2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007989.1, covering TFR2 transcript NM_003227.3.
(upstream sequence)
. . . . g.5041
cgctgggggacagcctgcaggcttcaggaggggacacaagc c.-1
. . . | 02 . . . g.5349
ATGGAGCGGCTTTGGGGTCTATTCCAGAGAGCG | CAACAACTGTCCCCAAGATCCTCTCAG c.60
M E R L W G L F Q R A | Q Q L S P R S S Q p.20
. . . . . . g.5409
ACCGTCTACCAGCGTGTGGAAGGCCCCCGGAAAGGGCACCTGGAGGAGGAAGAGGAAGAC c.120
T V Y Q R V E G P R K G H L E E E E E D p.40
. . . . . . g.5469
GGGGAGGAGGGGGCGGAGACATTGGCCCACTTCTGCCCCATGGAGCTGAGGGGCCCTGAG c.180
G E E G A E T L A H F C P M E L R G P E p.60
. . . . . . g.5529
CCCCTGGGCTCTAGACCCAGGCAGCCAAACCTCATTCCCTGGGCGGCAGCAGGACGGAGG c.240
P L G S R P R Q P N L I P W A A A G R R p.80
. . . . | 03 . . g.5692
GCTGCCCCCTACCTGGTCCTGACGGCCCTGCTGATCTTCACTGGGG | CCTTCCTACTGGGC c.300
A A P Y L V L T A L L I F T G A | F L L G p.100
. . . . . . g.5752
TACGTCGCCTTCCGAGGGTCCTGCCAGGCGTGCGGAGACTCTGTGTTGGTGGTCAGTGAG c.360
Y V A F R G S C Q A C G D S V L V V S E p.120
. . . . . . g.5812
GATGTCAACTATGAGCCTGACCTGGATTTCCACCAGGGCAGACTCTACTGGAGCGACCTC c.420
D V N Y E P D L D F H Q G R L Y W S D L p.140
. . . . . | 04 . g.13001
CAGGCCATGTTCCTGCAGTTCCTGGGGGAGGGGCGCCTGGAGGACACCATCAG | GCAAACC c.480
Q A M F L Q F L G E G R L E D T I R | Q T p.160
. . . . . . g.13061
AGCCTTCGGGAACGGGTGGCAGGCTCGGCCGGGATGGCCGCTCTGACTCAGGACATTCGC c.540
S L R E R V A G S A G M A A L T Q D I R p.180
. . . . . . g.13121
GCGGCGCTCTCCCGCCAGAAGCTGGACCACGTGTGGACCGACACGCACTACGTGGGGCTG c.600
A A L S R Q K L D H V W T D T H Y V G L p.200
. | 05 . . . . . g.13256
CAATTCCCGGATCC | GGCTCACCCCAACACCCTGCACTGGGTCGATGAGGCCGGGAAGGTC c.660
Q F P D P | A H P N T L H W V D E A G K V p.220
. . . . . . g.13316
GGAGAGCAGCTGCCGCTGGAGGACCCTGACGTCTACTGCCCCTACAGCGCCATCGGCAAC c.720
G E Q L P L E D P D V Y C P Y S A I G N p.240
| 06 . . . . . . g.13481
GTCACG | GGAGAGCTGGTGTACGCCCACTACGGGCGGCCCGAAGACCTGCAGGACCTGCGG c.780
V T | G E L V Y A H Y G R P E D L Q D L R p.260
. . . . . . g.13541
GCCAGGGGCGTGGATCCAGTGGGCCGCCTGCTGCTGGTGCGCGTGGGGGTGATCAGCTTC c.840
A R G V D P V G R L L L V R V G V I S F p.280
| 07 . . . . . g.14403
GCCCAGAAG | GTGACCAATGCTCAGGACTTCGGGGCTCAAGGAGTGCTCATATACCCAGAG c.900
A Q K | V T N A Q D F G A Q G V L I Y P E p.300
. . . . . . g.14463
CCAGCGGACTTCTCCCAGGACCCACCCAAGCCAAGCCTGTCCAGCCAGCAGGCAGTGTAT c.960
P A D F S Q D P P K P S L S S Q Q A V Y p.320
| 08 . . . . . . g.14659
GGACAT | GTGCACCTGGGAACTGGAGACCCCTACACACCTGGCTTCCCTTCCTTCAATCAA c.1020
G H | V H L G T G D P Y T P G F P S F N Q p.340
. . . . . . g.14719
ACCCAGTTCCCTCCAGTTGCATCATCAGGCCTTCCCAGCATCCCAGCCCAGCCCATCAGT c.1080
T Q F P P V A S S G L P S I P A Q P I S p.360
. . | 09 . . . . g.15532
GCAGACATTGCCTCCCGCCTGCTGAG | GAAGCTCAAAGGCCCTGTGGCCCCCCAAGAATGG c.1140
A D I A S R L L R | K L K G P V A P Q E W p.380
. . . . . . g.15592
CAGGGGAGCCTCCTAGGCTCCCCTTATCACCTGGGCCCCGGGCCACGACTGCGGCTAGTG c.1200
Q G S L L G S P Y H L G P G P R L R L V p.400
. . . . . . g.15652
GTCAACAATCACAGGACCTCCACCCCCATCAACAACATCTTCGGCTGCATCGAAGGCCGC c.1260
V N N H R T S T P I N N I F G C I E G R p.420
. | 10 . . . . . g.17228
TCAGAGCCAG | ATCACTACGTTGTCATCGGGGCCCAGAGGGATGCATGGGGCCCAGGAGCA c.1320
S E P D | H Y V V I G A Q R D A W G P G A p.440
. . . . . . g.17288
GCTAAATCCGCTGTGGGGACGGCTATACTCCTGGAGCTGGTGCGGACCTTTTCCTCCATG c.1380
A K S A V G T A I L L E L V R T F S S M p.460
. | 11 . . . . . g.18294
GTGAGCAACG | GCTTCCGGCCCCGCAGAAGTCTCCTCTTCATCAGCTGGGACGGTGGTGAC c.1440
V S N G | F R P R R S L L F I S W D G G D p.480
. . . | 12 . . . g.18441
TTTGGAAGCGTGGGCTCCACGGAGTGGCTAGAG | GGCTACCTCAGCGTGCTGCACCTCAAA c.1500
F G S V G S T E W L E | G Y L S V L H L K p.500
. . . | 13. . . g.18599
GCCGTAGTGTACGTGAGCCTGGACAACGCAGTGCTGG | GGGATGACAAGTTTCATGCCAAG c.1560
A V V Y V S L D N A V L G | D D K F H A K p.520
. . . . | 14 . . g.18745
ACCAGCCCCCTTCTGACAAGTCTCATTGAGAGTGTCCTGAAGCAG | GTGGATTCTCCCAAC c.1620
T S P L L T S L I E S V L K Q | V D S P N p.540
. . . . . . g.18805
CACAGTGGGCAGACTCTCTATGAACAGGTGGTGTTCACCAATCCCAGCTGGGATGCTGAG c.1680
H S G Q T L Y E Q V V F T N P S W D A E p.560
| 15 . . . . . . g.18947
GT | GATCCGGCCCCTACCCATGGACAGCAGTGCCTATTCCTTCACGGCCTTTGTGGGAGTC c.1740
V | I R P L P M D S S A Y S F T A F V G V p.580
. . | 16. . . . g.19092
CCTGCCGTCGAGTTCTCCTTTATGGAG | GACGACCAGGCCTACCCATTCCTGCACACAAAG c.1800
P A V E F S F M E | D D Q A Y P F L H T K p.600
. . . . . . g.19152
GAGGACACTTATGAGAACCTGCATAAGGTGCTGCAAGGCCGCCTGCCCGCCGTGGCCCAG c.1860
E D T Y E N L H K V L Q G R L P A V A Q p.620
. . . . . . g.19212
GCCGTGGCCCAGCTCGCAGGGCAGCTCCTCATCCGGCTCAGCCACGATCGCCTGCTGCCC c.1920
A V A Q L A G Q L L I R L S H D R L L P p.640
. . . . . . g.19272
CTCGACTTCGGCCGCTACGGGGACGTCGTCCTCAGGCACATCGGGAACCTCAACGAGTTC c.1980
L D F G R Y G D V V L R H I G N L N E F p.660
. | 17 . . . . . g.19692
TCTGGGGACCTCAAG | GCCCGCGGGCTGACCCTGCAGTGGGTGTACTCGGCGCGGGGGGAC c.2040
S G D L K | A R G L T L Q W V Y S A R G D p.680
. . . . . . g.19752
TACATCCGGGCGGCGGAAAAGCTGCGGCAGGAGATCTACAGCTCGGAGGAGAGAGACGAG c.2100
Y I R A A E K L R Q E I Y S S E E R D E p.700
. . . | 18 . . . g.25448
CGACTGACACGCATGTACAACGTGCGCATAATGCGG | GTGGAGTTCTACTTCCTTTCCCAG c.2160
R L T R M Y N V R I M R | V E F Y F L S Q p.720
. . . . . . g.25508
TACGTGTCGCCAGCCGACTCCCCGTTCCGCCACATCTTCATGGGCCGTGGAGACCACACG c.2220
Y V S P A D S P F R H I F M G R G D H T p.740
. . . . . . g.25568
CTGGGCGCCCTGCTGGACCACCTGCGGCTGCTGCGCTCCAACAGCTCCGGGACCCCCGGG c.2280
L G A L L D H L R L L R S N S S G T P G p.760
. . . . . . g.25628
GCCACCTCCTCCACTGGCTTCCAGGAGAGCCGTTTCCGGCGTCAGCTAGCCCTGCTCACC c.2340
A T S S T G F Q E S R F R R Q L A L L T p.780
. . . . . . g.25688
TGGACGCTGCAAGGGGCAGCCAATGCGCTTAGCGGGGATGTCTGGAACATTGATAACAAC c.2400
W T L Q G A A N A L S G D V W N I D N N p.800
g.25694
TTCTGA c.2406
F X p.801
. . . . . . g.25754
ggccctggggatcctcacatccccgtcccccagtcaagagctcctctgctcctcgcttga c.*60
. . . . . . g.25814
atgattcagggtcagggaggtggctcagagtccacctctcattgctgatcaatttctcat c.*120
. . . . . . g.25874
tacccctacacatctctccacggagcccagaccccagcacagatatccacacaccccagc c.*180
. . . . . . g.25934
cctgcagtgtagctgaccctaatgtgacggtcatactgtcggttaatcagagagtagcat c.*240
. . . . . . g.25994
cccttcaatcacagccccttcccctttctggggtcctccatacctagagaccactctggg c.*300
. . . . . . g.26054
aggtttgctaggccctgggacctggccagctctgttagtgggagagatcgctggcaccat c.*360
. . . . . . g.26114
agccttatggccaacaggtggtctgtggtgaaaggggcgtggagtttcaatatcaataaa c.*420
. . g.26135
ccacctgatatcaataagcca c.*441
(downstream sequence)
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