(used for variant description)
(last modified July 4, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_053281.3 in the DACH2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012817.1, covering DACH2 transcript NM_053281.3.
(upstream sequence)
. . . . . g.5050
actgtttgttgagcttgagcgtgagccggctgctgaagacttgcgaacag c.-121
. . . . . . g.5110
ttcggagccagcgagagcgcgccagagagagcgagagtgagggagtgagtgcgaggggat c.-61
. . . . . . g.5170
ctagaggagtcagggcgagaaagcgagggccggaggacccacgatagagacagagtgacc c.-1
. . . . . . g.5230
ATGGCTGTCTCCGCATCTCCAGTGATCTCTGCAACTTCCAGCGGCGCCGGCGTCCCGGGG c.60
M A V S A S P V I S A T S S G A G V P G p.20
. . . . . . g.5290
GGCTTATTCCGGGCCGAACCCCTGTACTCGACTCCCAGAGAGCCCCCTCGTCTTACTCCT c.120
G L F R A E P L Y S T P R E P P R L T P p.40
. . . . . . g.5350
AATATGATCAATAGTTTCGTGGTTAATAACCACAGCAACAGTGCCGGAGGCGGCGGCAGG c.180
N M I N S F V V N N H S N S A G G G G R p.60
. . . . . . g.5410
GGCAACACCAACACCAACGAGTGCCGCATGGTCGACATGCACGGGATGAAGGTGGCTTCG c.240
G N T N T N E C R M V D M H G M K V A S p.80
. . . . . . g.5470
TTCCTGATGGACGGCCAGGAACTGATCTGCCTGCCGCAAGTCTTTGATCTTTTTCTCAAG c.300
F L M D G Q E L I C L P Q V F D L F L K p.100
. . . . . . g.5530
CACCTGGTGGGAGGCTTGCACACTGTGTACACCAAGCTGAAGAGACTGGATATATCCCCC c.360
H L V G G L H T V Y T K L K R L D I S P p.120
. . . . . . g.5590
GTGGTGTGTACTGTTGAGCAGGTCCGGATCCTCCGCGGGCTGGGGGCCATCCAGCCCGGG c.420
V V C T V E Q V R I L R G L G A I Q P G p.140
. . . . . . g.5650
GTAAACCGCTGCAAACTCATCACCAGGAAAGACTTCGAAACTTTGTTCACCGATTGCACC c.480
V N R C K L I T R K D F E T L F T D C T p.160
| 02 . . . | 03. . g.370840
AATGCCAG | AAGGAAGAGGCAAATGACAAGAAAACAAGCTGTTAACAG | TTCAAGACCCGGC c.540
N A R | R K R Q M T R K Q A V N S | S R P G p.180
. . . . . . g.370900
AGGCCCCCTAAGCGTTCTTTGGGAGTGTTGCAGGAAAATGCCCGCCTTCTGACCCATGCA c.600
R P P K R S L G V L Q E N A R L L T H A p.200
. . . . | 04 . . g.507604
GTCCCAGGCCTCTTATCGCCAGGACTTATCACTCCGACAG | GTATAACAGCTGCAGCGATG c.660
V P G L L S P G L I T P T G | I T A A A M p.220
. . . . . . g.507664
GCTGAGGCGATGAAACTTCAGAAGATGAAGCTTATGGCTATGAACACTCTTCAGGGAAAT c.720
A E A M K L Q K M K L M A M N T L Q G N p.240
. . . . . | 05 . g.551577
GGAAGCCAAAATGGGACCGAATCAGAGCCTGATGATCTTAATTCTAACACAG | GTGGAAGT c.780
G S Q N G T E S E P D D L N S N T G | G S p.260
. . . . . . g.551637
GAATCCTCCTGGGATAAAGATAAGATGCAGTCTCCATTTGCTGCACCTGGACCCCAACAT c.840
E S S W D K D K M Q S P F A A P G P Q H p.280
. . . . . . g.551697
GGAATTGCTCATGCAGCCCTAGCTGGCCAGCCAGGCATTGGGGGTGCTCCAACCCTCAAT c.900
G I A H A A L A G Q P G I G G A P T L N p.300
. . . | 06 . . . g.571125
CCACTGCAGCAGAACCACCTGCTAACCAATA | GACTGGATCTGCCATTTATGATGATGCCT c.960
P L Q Q N H L L T N R | L D L P F M M M P p.320
. . . . . . g.571185
CATCCCCTACTTCCAGTCAGCTTACCTCCTGCATCAGTTGCCATGGCAATGAATCAGATG c.1020
H P L L P V S L P P A S V A M A M N Q M p.340
. . . . . . g.571245
AACCATCTCAATACTATTGCCAACATGGCTGCTGCAGCACAGATTCACAGTCCACTCTCC c.1080
N H L N T I A N M A A A A Q I H S P L S p.360
. . | 07 . . . . g.596331
AGAGCTGGTACCTCTGTTATAAAG | GAGCGGATCCCAGAGAGTCCTTCTCCTGCTCCTTCT c.1140
R A G T S V I K | E R I P E S P S P A P S p.380
. . . . . . g.596391
CTAGAAGAGAATCATCGTCCTGGGAGCCAGACCTCTTCCCACACCAGCAGCAGTGTGTCC c.1200
L E E N H R P G S Q T S S H T S S S V S p.400
. . . . | 08 . . g.669424
AGCTCTCCCTCTCAGATGGATCATCATTTGGAAAGAATGG | AAGAGGTACCAGTTCAAATT c.1260
S S P S Q M D H H L E R M E | E V P V Q I p.420
. . . . . . g.669484
CCAATAATGAAGTCACCCTTGGACAAGATACAGCTGACTCCTGGGCAGGCATTGCCCGCT c.1320
P I M K S P L D K I Q L T P G Q A L P A p.440
. . . . . . g.669544
GGATTCCCTGGACCATTCATTTTTGCTGATAGTCTGTCCTCCGTGGAGACTCTGTTGACC c.1380
G F P G P F I F A D S L S S V E T L L T p.460
| 09 . . . . . g.669729
AACATTCAG | GGTCTGCTGAAAGTTGCTTTGGATAATGCTCGCATCCAGGAGAAGCAGATT c.1440
N I Q | G L L K V A L D N A R I Q E K Q I p.480
. . . . . . g.669789
CAACAAGAAAAGAAGGAGCTGCGACTGGAGCTCTATAGAGAGAGAGAAATTAGAGAAAAC c.1500
Q Q E K K E L R L E L Y R E R E I R E N p.500
. . . | 10. . . g.671259
CTTGAAAGACAACTTGCAGTTGAGCTTCAAAGCAGAA | CTACTATGCAAAAGCGCCTGAAG c.1560
L E R Q L A V E L Q S R T | T M Q K R L K p.520
. . . . . . g.671319
AAGGAGAAAAAAACCAAGAGAAAATTGCAGGAAGCCTTGGAATTTGAATCAAAGCGCCGG c.1620
K E K K T K R K L Q E A L E F E S K R R p.540
. . . . . . g.671379
GAGCAAGTGGAGCAGGCACTTAAGCAAGCCACCACTAGTGACAGTGGCCTGAGGATGTTA c.1680
E Q V E Q A L K Q A T T S D S G L R M L p.560
| 11 . . . . . . g.672638
AAAG | ATACTGGAATTCCAGATATTGAAATAGAAAACAATGGGACTCCTCATGATAGTGCT c.1740
K D | T G I P D I E I E N N G T P H D S A p.580
. | 12 . . . . . g.688704
GCTATGCAAG | GAGGTAACTATTACTGTTTAGAAATGGCACAACAGTTGTATTCAGCCTGA c.1800
A M Q G | G N Y Y C L E M A Q Q L Y S A X p.599
. . . . . . g.688764
aaggtcctcgctggctttacataaatgaagatgcttgtgattccagtttatctctgaaac c.*60
. . . . . . g.688824
tattcaacatggagttatttcagttttgtttatcagcaaagctttgtttactgaaggagc c.*120
. . . . . . g.688884
tatttaatctatgttacattaaaaaagaaacgcgtgtacattttaaaagcaatgatgtaa c.*180
. . . . . . g.688944
actttgttcttgcattagactgaccagtttaaaaatatgaactaaaacctaatggctaaa c.*240
. . . . . . g.689004
gtaacttgaccatatttgatgcttttctatgctcatttcaacttggctttttgtctttta c.*300
. . . . . . g.689064
aatttttaaaaaatgcagtagtgtgttagagactagaaagttatatgtatggtttccctg c.*360
. . . . . . g.689124
ttctactatacataacgttaaagtacaccttctttgttaaaaatgtacttgctaaacttc c.*420
. . g.689151
agcgtaaataaaaacattttgactttg c.*447
(downstream sequence)
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