(used for variant description)
(last modified December 1, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_199292.2 in the TH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008128.1, covering TH transcript NM_199292.2.
(upstream sequence)
. g.5019
cggacctccacactgagcc c.-1
. . . . . . g.5079
ATGCCCACCCCCGACGCCACCACGCCACAGGCCAAGGGCTTCCGCAGGGCCGTGTCTGAG c.60
M P T P D A T T P Q A K G F R R A V S E p.20
. . . . | 02 . . g.6053
CTGGACGCCAAGCAGGCAGAGGCCATCATGGTAAGAGGGCAG | GGCGCCCCGGGGCCCAGC c.120
L D A K Q A E A I M V R G Q | G A P G P S p.40
. . . . . . g.6113
CTCACAGGCTCTCCGTGGCCTGGAACTGCAGCCCCAGCTGCATCCTACACCCCCACCCCA c.180
L T G S P W P G T A A P A A S Y T P T P p.60
| 03 . . . . . . g.6991
AGG | TCCCCGCGGTTCATTGGGCGCAGGCAGAGCCTCATCGAGGACGCCCGCAAGGAGCGG c.240
R | S P R F I G R R Q S L I E D A R K E R p.80
. . . . . . g.7051
GAGGCGGCGGTGGCAGCAGCGGCCGCTGCAGTCCCCTCGGAGCCCGGGGACCCCCTGGAG c.300
E A A V A A A A A A V P S E P G D P L E p.100
. . . . . . g.7111
GCTGTGGCCTTTGAGGAGAAGGAGGGGAAGGCCGTGCTAAACCTGCTCTTCTCCCCGAGG c.360
A V A F E E K E G K A V L N L L F S P R p.120
. . . . | 04 . . g.8155
GCCACCAAGCCCTCGGCGCTGTCCCGAGCTGTGAAGGTGTTTGAG | ACGTTTGAAGCCAAA c.420
A T K P S A L S R A V K V F E | T F E A K p.140
. . . . . . g.8215
ATCCACCATCTAGAGACCCGGCCCGCCCAGAGGCCGCGAGCTGGGGGCCCCCACCTGGAG c.480
I H H L E T R P A Q R P R A G G P H L E p.160
. . . . . . g.8275
TACTTCGTGCGCCTCGAGGTGCGCCGAGGGGACCTGGCCGCCCTGCTCAGTGGTGTGCGC c.540
Y F V R L E V R R G D L A A L L S G V R p.180
. . . . | 05 . . g.8646
CAGGTGTCAGAGGACGTGCGCAGCCCCGCGGGGCCCAAGG | TCCCCTGGTTCCCAAGAAAA c.600
Q V S E D V R S P A G P K V | P W F P R K p.200
. . . . . . g.8706
GTGTCAGAGCTGGACAAGTGTCATCACCTGGTCACCAAGTTCGACCCTGACCTGGACTTG c.660
V S E L D K C H H L V T K F D P D L D L p.220
| 06 . . . . . g.8923
GACCACCCG | GGCTTCTCGGACCAGGTGTACCGCCAGCGCAGGAAGCTGATTGCTGAGATC c.720
D H P | G F S D Q V Y R Q R R K L I A E I p.240
. | 07. . . . . g.9363
GCCTTCCAGTACAGGCA | CGGCGACCCGATTCCCCGTGTGGAGTACACCGCCGAGGAGATT c.780
A F Q Y R H | G D P I P R V E Y T A E E I p.260
| 08 . . . . . g.9825
GCCACCTG | GAAGGAGGTCTACACCACGCTGAAGGGCCTCTACGCCACGCACGCCTGCGGG c.840
A T W | K E V Y T T L K G L Y A T H A C G p.280
. . . . . . g.9885
GAGCACCTGGAGGCCTTTGCTTTGCTGGAGCGCTTCAGCGGCTACCGGGAAGACAATATC c.900
E H L E A F A L L E R F S G Y R E D N I p.300
. . . | 09 . . . g.10063
CCCCAGCTGGAGGACGTCTCCCGCTTCCTGAAGG | AGCGCACGGGCTTCCAGCTGCGGCCT c.960
P Q L E D V S R F L K E | R T G F Q L R P p.320
. . . . . . g.10123
GTGGCCGGCCTGCTGTCCGCCCGGGACTTCCTGGCCAGCCTGGCCTTCCGCGTGTTCCAG c.1020
V A G L L S A R D F L A S L A F R V F Q p.340
. . . . . | 10 . g.10266
TGCACCCAGTATATCCGCCACGCGTCCTCGCCCATGCACTCCCCTGAGCC | GGACTGCTGC c.1080
C T Q Y I R H A S S P M H S P E P | D C C p.360
. . . . . . g.10326
CACGAGCTGCTGGGGCACGTGCCCATGCTGGCCGACCGCACCTTCGCGCAGTTCTCGCAG c.1140
H E L L G H V P M L A D R T F A Q F S Q p.380
| 11 . . . . . | 12. g.11045
| GACATTGGCCTGGCGTCCCTGGGGGCCTCGGATGAGGAAATTGAGAAGCTGTCCACG | CTG c.1200
| D I G L A S L G A S D E E I E K L S T | L p.400
. . . . . . g.11105
TACTGGTTCACGGTGGAGTTCGGGCTGTGTAAGCAGAACGGGGAGGTGAAGGCCTATGGT c.1260
Y W F T V E F G L C K Q N G E V K A Y G p.420
. . . | 13 . . . g.11467
GCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTG | CACTGCCTGTCTGAGGAGCCTGAGATT c.1320
A G L L S S Y G E L L | H C L S E E P E I p.440
. . . . . . g.11527
CGGGCCTTCGACCCTGAGGCTGCGGCCGTGCAGCCCTACCAAGACCAGACGTACCAGTCA c.1380
R A F D P E A A A V Q P Y Q D Q T Y Q S p.460
. . . . | 14. . g.12426
GTCTACTTCGTGTCTGAGAGCTTCAGTGACGCCAAGGACAAGCTCAG | GAGCTATGCCTCA c.1440
V Y F V S E S F S D A K D K L R | S Y A S p.480
. . . . . . g.12486
CGCATCCAGCGCCCCTTCTCCGTGAAGTTCGACCCGTACACGCTGGCCATCGACGTGCTG c.1500
R I Q R P F S V K F D P Y T L A I D V L p.500
. . . . . . g.12546
GACAGCCCCCAGGCCGTGCGGCGCTCCCTGGAGGGTGTCCAGGATGAGCTGGACACCCTT c.1560
D S P Q A V R R S L E G V Q D E L D T L p.520
. . g.12573
GCCCATGCGCTGAGTGCCATTGGCTAG c.1587
A H A L S A I G X p.528
. . . . . . g.12633
gtgcacggcgtccctgagggcccttcccaacctcccctggtcctgcactgtcccggagct c.*60
. . . . . . g.12693
caggccctggtgaggggctgggtcccgggtgccccccatgccctccctgctgccaggctc c.*120
. . . . . . g.12753
ccactgcccctgcacctgcttctcagcgcaacagctgtgtgtgcccgtggtgaggttgtg c.*180
. . . . . . g.12813
ctgcctgtggtgaggtcctgtcctggctcccagggtcctgggggctgctgcactgccctc c.*240
. . . . . . g.12873
cgcccttccctgacactgtctgctgccccaatcaccgtcacaataaaagaaactgtggtc c.*300
g.12877
tcta c.*304
(downstream sequence)
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