(used for variant description)
(last modified November 11, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_003181.3 in the T gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012135.1, covering T transcript NM_003181.3.
(upstream sequence)
. . . g.5013
ggaggacacttctcagaaggggttgttttgcttttgctt c.-481
. . . . . . g.5073
atttccgtccatttccctctctgcgcgcggaccttccttttccagatggtgagagccgcg c.-421
. . . . . . g.5133
gggacacccgacgccggggcaggctgatccacgatcctgggtgtgcgtaacgccgcctgg c.-361
. . . . . . g.5193
ggctccgtgggcgagggacgtgtggggacaggtgcaccggaaactgccagactggagagt c.-301
. . . . . . g.5253
tgaggcatcggaggcgcgagaacagcactactactgcggcgagacgagcgcggcgcatcc c.-241
. . . . . . g.5313
caaagcccggccaaatgcgctcgtccctgggaggggagggaggcgcgcctggagcgggga c.-181
. | 02 . . . . . g.5932
cag | tcttggtccgcgccctcctcccgggtctgtgccgggacccgggacccgggagccgtc c.-121
. . . . . . g.5992
gcaggtctcggtccaaggggccccttttctcggaagggcggcggccaagagcagggaagg c.-61
. . . . . . g.6052
tggatctcaggtagcgagtctgggcttcggggacggcggggaggggagccggacgggagg c.-1
. . . . . . g.6112
ATGAGCTCCCCTGGCACCGAGAGCGCGGGAAAGAGCCTGCAGTACCGAGTGGACCACCTG c.60
M S S P G T E S A G K S L Q Y R V D H L p.20
. . . . . . g.6172
CTGAGCGCCGTGGAGAATGAGCTGCAGGCGGGCAGCGAGAAGGGCGACCCCACAGAGCGC c.120
L S A V E N E L Q A G S E K G D P T E R p.40
. . . . . . g.6232
GAACTGCGCGTGGGCCTGGAGGAGAGCGAGCTGTGGCTGCGCTTCAAGGAGCTCACCAAT c.180
E L R V G L E E S E L W L R F K E L T N p.60
. . | 03 . . . . g.6821
GAGATGATCGTGACCAAGAACGGCAG | GAGGATGTTTCCGGTGCTGAAGGTGAACGTGTCT c.240
E M I V T K N G R | R M F P V L K V N V S p.80
. . . . . . g.6881
GGCCTGGACCCCAACGCCATGTACTCCTTCCTGCTGGACTTCGTGGCGGCGGACAACCAC c.300
G L D P N A M Y S F L L D F V A A D N H p.100
. . . . . . g.6941
CGCTGGAAGTACGTGAACGGGGAATGGGTGCCGGGGGGCAAGCCGGAGCCGCAGGCGCCC c.360
R W K Y V N G E W V P G G K P E P Q A P p.120
. . . . . . g.7001
AGCTGCGTCTACATCCACCCCGACTCGCCCAACTTCGGGGCCCACTGGATGAAGGCTCCC c.420
S C V Y I H P D S P N F G A H W M K A P p.140
. . . . . | 04 . g.7812
GTCTCCTTCAGCAAAGTCAAGCTCACCAACAAGCTCAACGGAGGGGGCCAG | ATCATGCTG c.480
V S F S K V K L T N K L N G G G Q | I M L p.160
. . . . . . g.7872
AACTCCTTGCATAAGTATGAGCCTCGAATCCACATAGTGAGAGTTGGGGGTCCACAGCGC c.540
N S L H K Y E P R I H I V R V G G P Q R p.180
. . . . . . g.7932
ATGATCACCAGCCACTGCTTCCCTGAGACCCAGTTCATAGCGGTGACTGCTTATCAGAAC c.600
M I T S H C F P E T Q F I A V T A Y Q N p.200
| 05 . . . . . . g.8836
GAGGAG | ATCACAGCTCTTAAAATTAAGTACAATCCATTTGCAAAAGCTTTCCTTGATGCA c.660
E E | I T A L K I K Y N P F A K A F L D A p.220
| 06 . . . . . g.9029
AAGGAAAG | AAGTGATCACAAAGAGATGATGGAGGAACCCGGAGACAGCCAGCAACCTGGG c.720
K E R | S D H K E M M E E P G D S Q Q P G p.240
. | 07 . . . . . g.11073
TACTCCCAAT | GGGGGTGGCTTCTTCCTGGAACCAGCACCCTGTGTCCACCTGCAAATCCT c.780
Y S Q W | G W L L P G T S T L C P P A N P p.260
. . . . . . g.11133
CATCCTCAGTTTGGAGGTGCCCTCTCCCTCCCCTCCACGCACAGCTGTGACAGGTACCCA c.840
H P Q F G G A L S L P S T H S C D R Y P p.280
. . . . . . g.11193
ACCCTGAGGAGCCACCGGTCCTCACCCTACCCCAGCCCCTATGCTCATCGGAACAATTCT c.900
T L R S H R S S P Y P S P Y A H R N N S p.300
| 08 . . . . . . g.12733
CCAA | CCTATTCTGACAACTCACCTGCATGTTTATCCATGCTGCAATCCCATGACAATTGG c.960
P T | Y S D N S P A C L S M L Q S H D N W p.320
. . . . . . g.12793
TCCAGCCTTGGAATGCCTGCCCATCCCAGCATGCTCCCCGTGAGCCACAATGCCAGCCCA c.1020
S S L G M P A H P S M L P V S H N A S P p.340
. | 09 . . . . . g.15101
CCTACCAGCTCCAG | TCAGTACCCCAGCCTGTGGTCTGTGAGCAACGGCGCCGTCACCCCG c.1080
P T S S S | Q Y P S L W S V S N G A V T P p.360
. . . . . . g.15161
GGCTCCCAGGCAGCAGCCGTGTCCAACGGGCTGGGGGCCCAGTTCTTCCGGGGCTCCCCC c.1140
G S Q A A A V S N G L G A Q F F R G S P p.380
. . . . . . g.15221
GCGCACTACACACCCCTCACCCATCCGGTCTCGGCGCCCTCTTCCTCGGGATCCCCACTG c.1200
A H Y T P L T H P V S A P S S S G S P L p.400
. . . . . . g.15281
TACGAAGGGGCGGCCGCGGCCACAGACATCGTGGACAGCCAGTACGACGCCGCAGCCCAA c.1260
Y E G A A A A T D I V D S Q Y D A A A Q p.420
. . . . g.15329
GGCCGCCTCATAGCCTCATGGACACCTGTGTCGCCACCTTCCATGTGA c.1308
G R L I A S W T P V S P P S M X p.435
. . . . . . g.15389
agcagcaaggcccaggtcccgaaagatgcagtgactttttgtcgtggcagccagtggtga c.*60
. . . . . . g.15449
ctggattgacctactaggtacccagtggcagtctcaggttaagaaggaaatgcagcctca c.*120
. . . . . . g.15509
gtaacttccttttcaaagcagtggaggagcacacggcacctttccccagagccccagcat c.*180
. . . . . . g.15569
cccttgctcacacctgcagtagcggtgctgtcccaggtggcttacagatgaacccaactg c.*240
. . . . . . g.15629
tggagatgatgcagttggcccaacctcactgacggtgaaaaaatgtttgccagggtccag c.*300
. . . . . . g.15689
aaactttttttggtttatttctcatacagtgtattggcaactttggcacaccagaatttg c.*360
. . . . . . g.15749
taaactccaccagtcctactttagtgagataaaaagcacactcttaatcttcttccttgt c.*420
. . . . . . g.15809
tgctttcaagtagttagagttgagctgttaaggacagaataaaatcatagttgaggacag c.*480
. . . . . . g.15869
caggttttagttgaattgaaaatttgactgctctgccccctagaatgtgtgtattttaag c.*540
. . . . . . g.15929
catatgtagctaatctcttgtgttgttaaactataactgtttcatatttttcttttgaca c.*600
. . . . . g.15988
aagtagccaaagacaatcagcagaaagcattttctgcaaaataaacgcaatatgcaaaa c.*659
(downstream sequence)
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