(used for variant description)
(last modified January 19, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000116.3 in the TAZ gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009634.1, covering TAZ transcript NM_000116.3.
(upstream sequence)
g.5004
tttc c.-301
. . . . . . g.5064
cggcggttgcaccgggccggggtgccagcgcccgccttcccgtttcctcccgttccgcag c.-241
. . . . . . g.5124
cgcgcccacggcctgtgaccccggcgaccgctccccagtgacgagagagcggggccgggc c.-181
. . . . . . g.5184
gctgctccggcctgacctgcgaagggacctcggtccagtcccctgttgcgccgcgccccc c.-121
. . . . . . g.5244
tgtccgtccgtgcgcgggccagtcaggggccagtgtctcgagcggtcgaggtcgcagacc c.-61
. . . . . . g.5304
tagaggcgccccacaggccggcccggggcgctgggagcgccggccgcgggccgggtgggg c.-1
. . . . . . g.5364
ATGCCTCTGCACGTGAAGTGGCCGTTCCCCGCGGTGCCGCCGCTCACCTGGACCCTGGCC c.60
M P L H V K W P F P A V P P L T W T L A p.20
. . . . | 02 . g.5557
AGCAGCGTCGTCATGGGCTTGGTGGGCACCTACAGCTGCTTCTGGACCA | AGTACATGAAC c.120
S S V V M G L V G T Y S C F W T K | Y M N p.40
. . . . . . g.5617
CACCTGACCGTGCACAACAGGGAGGTGCTGTACGAGCTCATCGAGAAGCGAGGCCCGGCC c.180
H L T V H N R E V L Y E L I E K R G P A p.60
. . . . . | 03 g.6669
ACGCCCCTCATCACCGTGTCCAATCACCAGTCCTGCATGGACGACCCTCATCTCTGGG | GG c.240
T P L I T V S N H Q S C M D D P H L W G | p.80
. . . . | 04 . . g.6958
ATCCTGAAACTCCGCCACATCTGGAACCTGAAGTTGATGCGTTG | GACCCCTGCAGCTGCA c.300
I L K L R H I W N L K L M R W | T P A A A p.100
. . . . . . g.7018
GACATCTGCTTCACCAAGGAGCTACACTCCCACTTCTTCAGCTTGGGCAAGTGTGTGCCT c.360
D I C F T K E L H S H F F S L G K C V P p.120
. | 05 . . . . . g.7611
GTGTGCCGAG | GAGCAGAATTTTTCCAAGCAGAGAATGAGGGGAAAGGTGTTCTAGACACA c.420
V C R G | A E F F Q A E N E G K G V L D T p.140
. . . . | 06 . . g.13025
GGCAGGCACATGCCAGGTGCTGGAAAAAGAAGAGAGAAAG | GAGATGGCGTCTACCAGAAG c.480
G R H M P G A G K R R E K G | D G V Y Q K p.160
. . . . . . g.13085
GGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAA c.540
G M D F I L E K L N H G D W V H I F P E p.180
| 07 . . . . | 08 . . g.13511
G | GGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGG | GAATCGGGCGCCTGATT c.600
G | K V N M S S E F L R F K W G | I G R L I p.200
. . . . | 09 . . g.13688
GCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCG | GAATGAATGACGTC c.660
A E C H L N P I I L P L W H V G | M N D V p.220
. . . | 10 . . g.14141
CTTCCTAACAGTCCGCCCTACTTCCCCCGCTTTGGACAG | AAAATCACTGTGCTGATCGGG c.720
L P N S P P Y F P R F G Q | K I T V L I G p.240
. . . . . | 11. g.14368
AAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCT | GTG c.780
K P F S A L P V L E R L R A E N K S A | V p.260
. . . . . . g.14428
GAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAG c.840
E M R K A L T D F I Q E E F Q H L K T Q p.280
. . . g.14467
GCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAG c.879
A E Q L H N H L Q P G R X p.292
. . . . . . g.14527
gccttgcttgctgccttctggattcttggcccgcacagagctggggctgagggatggact c.*60
. . . . . . g.14587
gatgcttttagctcaaacgtggcttttagacagatttgttcatagaccctctcaagtgcc c.*120
. . . . . . g.14647
ctctccgagctggtaggcattccagctcctccgtgcttcctcagttacacaaaggacctc c.*180
. . . . . . g.14707
agctgcttctcccacttggccaagcagggaggaagaagcttaggcagggctctctttcct c.*240
. . . . . . g.14767
tcttgccttcagatgttctctcccaggggctggcttcaggagggagcatagaaggcaggt c.*300
. . . . . . g.14827
gagcaaccagttggctaggggagcagggggcccaccagagctgtggagaggggaccctaa c.*360
. . . . . . g.14887
gactcctcggcctggctcctacccaccgcccttgccgaaccaggagctgctcactacctc c.*420
. . . . . . g.14947
ctcagggatggccgttggccacgtcttccttctgcctgagcttccccccgaccacaggcc c.*480
. . . . . . g.15007
ctttcctcaggcaaggtctggcctcaggtgggccgcaggcgggaaaagcagcccttggcc c.*540
. . . . . . g.15067
agaagtcaagcccagccacgtggagcctagagtgagggcctgaggtctggctgcttgccc c.*600
. . . . . . g.15127
ccatgctggcgccaacaacttctccatcctttctgcctctcaacatcacttgaatcctag c.*660
. . . . . . g.15187
ggcctgggttttcatgtttttgaaacagaaccataaagcatatgtgttggcttgttgtaa c.*720
g.15189
aa c.*722
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2015 Leiden University Medical Center