(used for variant description)
(last modified August 10, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000325.5 in the PITX2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007120.1, covering PITX2 transcript NM_000325.5.
(upstream sequence)
. . . g.24063
gttaggccaacagggaagcgcggagccgcagatctggt c.-601
. . . . . . g.24123
ccgtcgctcgcctgggtgcctggagctgagctgcggcaaggcccggctcctgttcgaccg c.-541
. . . . . . g.24183
cccgaggggtgtgcgtgtgcgcgttgcggagggtgcgctcagagggccgcgtcgtggctg c.-481
. . . . . . g.24243
cagcggctgctgccgccgcaggggatctaatatcacctacctgtccctgtcactcttgac c.-421
. . . . . . g.24303
acttctctgtcagggctgccgcgtggggggggggcgggcagagcgcggtcggcgttagct c.-361
. . . . . . g.24363
ttccttattggaggggttcttgggggagggagggagagaagaagggggtctttgcccact c.-301
. . . . . . g.24423
cttgtttcgctttggagcttggaagcctgctccctaaagacgctctgagtggtgcccttc c.-241
. . . . . . g.24483
tgcccacatcccatgtcttcgtttgcccgctgactttccgtctccggactttttcgcttg c.-181
. . . . . . g.24543
agccttccggaggagacgggggcagcttggcttgagaactcggcgggggttgcgtcccct c.-121
. . . . . . g.24603
ggctctccccgcagcggggaaactccgcgcctagagcgcgacccggagcgggcagcggcg c.-61
. . . . . . g.24663
gctacgggggctcggcggggcagtagccaaggactagtagagcgtcgcgctccctcgtcc c.-1
. . . . . . g.24723
ATGAACTGCATGAAAGGCCCGCTTCACTTGGAGCACCGAGCAGCGGGGACCAAGCTGTCG c.60
M N C M K G P L H L E H R A A G T K L S p.20
. . . . . . g.24783
GCCGTCTCCTCATCTTCCTGTCACCATCCCCAGCCGTTAGCCATGGCTTCGGTTCTGGCT c.120
A V S S S S C H H P Q P L A M A S V L A p.40
. . . . . . g.24843
CCCGGTCAGCCCCGGTCGCTGGACTCCTCCAAGCACAGGCTGGAGGTGCACACCATCTCC c.180
P G Q P R S L D S S K H R L E V H T I S p.60
. . | 02 . . . . g.25789
GACACCTCCAGCCCGGAGGCCGCAG | AGAAAGATAAAAGCCAGCAGGGGAAGAATGAGGAC c.240
D T S S P E A A E | K D K S Q Q G K N E D p.80
. . . . . . g.25849
GTGGGCGCCGAGGACCCGTCTAAGAAGAAGCGGCAAAGGCGGCAGCGGACTCACTTTACC c.300
V G A E D P S K K K R Q R R Q R T H F T p.100
. . . . . . g.25909
AGCCAGCAGCTCCAGGAGCTGGAGGCCACTTTCCAGAGGAACCGCTACCCGGACATGTCC c.360
S Q Q L Q E L E A T F Q R N R Y P D M S p.120
. . . . . | 03 . g.28444
ACACGCGAAGAAATCGCTGTGTGGACCAACCTTACGGAAGCCCGAGTCCGG | GTTTGGTTC c.420
T R E E I A V W T N L T E A R V R | V W F p.140
. . . . . . g.28504
AAGAATCGTCGGGCCAAATGGAGAAAGAGGGAGCGCAACCAGCAGGCCGAGCTATGCAAG c.480
K N R R A K W R K R E R N Q Q A E L C K p.160
. . . . . . g.28564
AATGGCTTCGGGCCGCAGTTCAATGGGCTCATGCAGCCCTACGACGACATGTACCCAGGC c.540
N G F G P Q F N G L M Q P Y D D M Y P G p.180
. . . . . . g.28624
TATTCCTACAACAACTGGGCCGCCAAGGGCCTTACATCCGCCTCCCTATCCACCAAGAGC c.600
Y S Y N N W A A K G L T S A S L S T K S p.200
. . . . . . g.28684
TTCCCCTTCTTCAACTCTATGAACGTCAACCCCCTGTCATCACAGAGCATGTTTTCCCCA c.660
F P F F N S M N V N P L S S Q S M F S P p.220
. . . . . . g.28744
CCCAACTCTATCTCGTCCATGAGCATGTCGTCCAGCATGGTGCCCTCAGCAGTGACAGGC c.720
P N S I S S M S M S S S M V P S A V T G p.240
. . . . . . g.28804
GTCCCGGGCTCCAGTCTCAACAGCCTGAATAACTTGAACAACCTGAGTAGCCCGTCGCTG c.780
V P G S S L N S L N N L N N L S S P S L p.260
. . . . . . g.28864
AATTCCGCGGTGCCGACGCCTGCCTGTCCTTACGCGCCGCCGACTCCTCCGTATGTTTAT c.840
N S A V P T P A C P Y A P P T P P Y V Y p.280
. . . . . . g.28924
AGGGACACGTGTAACTCGAGCCTGGCCAGCCTGAGACTGAAAGCAAAGCAGCACTCCAGC c.900
R D T C N S S L A S L R L K A K Q H S S p.300
. . . . . . g.28984
TTCGGCTACGCCAGCGTGCAGAACCCGGCCTCCAACCTGAGTGCTTGCCAGTATGCAGTG c.960
F G Y A S V Q N P A S N L S A C Q Y A V p.320
. g.28999
GACCGGCCCGTGTGA c.975
D R P V X p.324
. . . . . . g.29059
gccgcacccacagcgccgggatcctaggaccttgccggatggggcaactccgcccttgaa c.*60
. . . . . . g.29119
agactgggaattatgctagaaggtcgtgggcactaaagaaagggagagaaagagaagcta c.*120
. . . . . . g.29179
tatagagaaaaggaaaccactgaatcaaagagagagctcctttgatttcaaagggatgtc c.*180
. . . . . . g.29239
ctcagtgtctgacatctttcactacaagtatttctaacagttgcaaggacacatacacaa c.*240
. . . . . . g.29299
acaaatgtttgactggatatgacattttaacattactataagcttgttattttttaagtt c.*300
. . . . . . g.29359
tagcattgttaacatttaaatgactgaaaggatgtatatatatcgaaatgtcaaattaat c.*360
. . . . . . g.29419
tttataaaagcagttgttagtaatatcacaacagtgtttttaaaggttaggctttaaaat c.*420
. . . . . . g.29479
aaagcatgttatacagaagcgattaggatttttcgcttgcgagcaagggagtgtatatac c.*480
. . . . . . g.29539
taaatgccacactgtatgtttctaacatattattattattataaaaaatgtgtgaatatc c.*540
. . . . . . g.29599
agttttagaatagtttctctggtggatgcaatgatgtttctgaaactgctatgtacaacc c.*600
. . . . . . g.29659
taccctgtgtataacatttcgtacaatattattgttttacttttcagcaaatatgaaaca c.*660
. . . . g.29701
aatgtgttttatttcatgggagtaaaatatactgcatacaaa c.*702
(downstream sequence)
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