(used for variant description)
(last modified September 13, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_024741.2 in the ZNF408 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_052967.1, covering ZNF408 transcript NM_024741.2.
(upstream sequence)
. . . . g.5041
ataactgtccgactcgtcgctcccaaagagatggctggaac c.-241
. . . . . . g.5101
aattagttccgctttcccagctagtcgaatcactggtgcacctccggaatccgaggttcg c.-181
. . . . . . g.5161
cattgctctcggacagagttctgcctccccagtactcccaaactcccagtcctgtgcacc c.-121
. . . . . . g.5221
aatgaggtccagctctgaggcttctttcctgagaaaaaaatttggaagtccgtgactgtt c.-61
. . . . . . g.5281
tcctggaggagctgagaagaggaagctcacttccggcgtagggaggctttctgacccgga c.-1
. . . . . | 02 . g.5640
ATGGAGGAGGCGGAGGAGCTGCTCTTGGAGGGGAAGAAGGCGCTGCAACTCG | CCCGCGAG c.60
M E E A E E L L L E G K K A L Q L A | R E p.20
. . . . . . g.5700
CCGCGCCTGGGCCTGGACTTAGGATGGAACCCTTCCGGAGAAGGCTGTACGCAGGGCCTC c.120
P R L G L D L G W N P S G E G C T Q G L p.40
. . . . . . g.5760
AAAGACGTCCCACCCGAGCCGACCCGAGACATCCTCGCTTTAAAGAGCCTTCCCCGGGGC c.180
K D V P P E P T R D I L A L K S L P R G p.60
. . . . . . g.5820
TTGGCCCTTGGCCCCTCACTCGCCAAGGAACAGCGCTTGGGGGTCTGGTGTGTCGGGGAC c.240
L A L G P S L A K E Q R L G V W C V G D p.80
. . . . . . g.5880
CCCCTGCAGCCCGGCCTGCTGTGGGGGCCGCTGGAAGAGGAGTCTGCCTCCAAGGAGAAG c.300
P L Q P G L L W G P L E E E S A S K E K p.100
. . . | 03 . . . g.6967
GGCGAGGGAGTAAAGCCACGGCAGGAGGAG | AACCTGTCATTAGGCCCATGGGGAGACGTG c.360
G E G V K P R Q E E | N L S L G P W G D V p.120
. . . | 04 . . . g.7245
TGTGCCTGTGAGCAGAGTTCTGGCTGGACTAG | CTTGGTACAACGGGGCAGGCTGGAGAGT c.420
C A C E Q S S G W T S | L V Q R G R L E S p.140
. . . . . . g.7305
GAGGGAAATGTGGCCCCAGTGCGGATCAGCGAGAGGCTTCATCTGCAAGTGTACCAGCTG c.480
E G N V A P V R I S E R L H L Q V Y Q L p.160
. . . . . . g.7365
GTGCTGCCAGGCTCTGAACTGCTGCTGTGGCCCCAGCCTTCCTCTGAGGGCCCAAGTCTC c.540
V L P G S E L L L W P Q P S S E G P S L p.180
. . . . . . g.7425
ACCCAGCCTGGGCTGGACAAAGAGGCAGCTGTAGCAGTGGTGACAGAAGTGGAGTCTGCT c.600
T Q P G L D K E A A V A V V T E V E S A p.200
. . . . . | 05 . g.8594
GTACAGCAGGAAGTGGCCTCCCCTGGGGAGGATGCAGCAGAACCTTGCATAG | ATCCTGGT c.660
V Q Q E V A S P G E D A A E P C I D | P G p.220
. . . . . . g.8654
TCCCAGTCACCCTCTGGCATCCAGGCAGAGAATATGGTGAGCCCTGGACTTAAGTTCCCA c.720
S Q S P S G I Q A E N M V S P G L K F P p.240
. . . . . . g.8714
ACCCAGGACCGAATTTCCAAGGATAGCCAGCCACTTGGCCCATTGCTTCAGGATGGCGAC c.780
T Q D R I S K D S Q P L G P L L Q D G D p.260
. . . . . . g.8774
GTGGATGAGGAATGCCCGGCCCAGGCACAGATGCCACCTGAACTTCAGAGCAATTCGGCT c.840
V D E E C P A Q A Q M P P E L Q S N S A p.280
. . . . . . g.8834
ACCCAGCAGGACCCAGATGGCAGTGGAGCCAGTTTCTCATCTTCTGCCAGGGGCACCCAG c.900
T Q Q D P D G S G A S F S S S A R G T Q p.300
. . . . . . g.8894
CCGCATGGCTACCTGGCCAAGAAGTTACACAGCCCCAGTGATCAGTGCCCACCCAGAGCA c.960
P H G Y L A K K L H S P S D Q C P P R A p.320
. . . . . . g.8954
AAGACCCCAGAGCCTGGAGCCCAGCAGTCTGGCTTCCCTACACTCTCGCGGAGCCCTCCT c.1020
K T P E P G A Q Q S G F P T L S R S P P p.340
. . . . . . g.9014
GGCCCAGCAGGAAGCTCCCCAAAGCAGGGGCGACGGTACCGGTGTGGAGAGTGTGGCAAG c.1080
G P A G S S P K Q G R R Y R C G E C G K p.360
. . . . . . g.9074
GCATTCCTACAGCTGTGCCACCTAAAGAAGCACGCATTTGTGCACACGGGCCACAAGCCC c.1140
A F L Q L C H L K K H A F V H T G H K P p.380
. . . . . . g.9134
TTTCTTTGCACTGAGTGTGGCAAGAGCTATAGCTCAGAGGAGAGCTTCAAAGCCCATATG c.1200
F L C T E C G K S Y S S E E S F K A H M p.400
. . . . . . g.9194
CTGGGCCACCGTGGGGTGCGGCCCTTCCCCTGTCCACAATGCGACAAGGCCTATGGCACC c.1260
L G H R G V R P F P C P Q C D K A Y G T p.420
. . . . . . g.9254
CAGCGAGACCTCAAAGAGCACCAGGTGGTACATTCAGGTGCCCGGCCCTTTGCTTGTGAC c.1320
Q R D L K E H Q V V H S G A R P F A C D p.440
. . . . . . g.9314
CAGTGTGGCAAGGCCTTTGCCCGCCGGCCCTCCCTGCGGCTGCATCGCAAGACCCACCAG c.1380
Q C G K A F A R R P S L R L H R K T H Q p.460
. . . . . . g.9374
GTGCCAGCTGCCCCTGCCCCTTGCCCATGCCCTGTGTGTGGGCGGCCCCTGGCCAACCAG c.1440
V P A A P A P C P C P V C G R P L A N Q p.480
. . . . . . g.9434
GGCTCCCTGCGGAACCATATGAGGCTCCATACAGGAGAAAAGCCTTTCCTGTGCCCGCAC c.1500
G S L R N H M R L H T G E K P F L C P H p.500
. . . . . . g.9494
TGTGGCCGGGCGTTTCGTCAGCGGGGCAACCTGCGTGGGCATTTGCGGCTCCACACCGGG c.1560
C G R A F R Q R G N L R G H L R L H T G p.520
. . . . . . g.9554
GAGCGTCCTTACCGCTGCCCACACTGTGCCGATGCCTTCCCCCAGCTGCCTGAACTGCGG c.1620
E R P Y R C P H C A D A F P Q L P E L R p.540
. . . . . . g.9614
CGCCATCTCATCTCACACACCGGGGAGGCCCACTTGTGCCCGGTGTGTGGCAAGGCCCTC c.1680
R H L I S H T G E A H L C P V C G K A L p.560
. . . . . . g.9674
CGAGACCCACACACGCTCCGAGCTCACGAGCGCCTGCACTCCGGAGAGAGGCCCTTTCCC c.1740
R D P H T L R A H E R L H S G E R P F P p.580
. . . . . . g.9734
TGTCCCCAGTGTGGCCGTGCTTACACGCTGGCCACCAAGCTGCGGCGCCACCTCAAATCT c.1800
C P Q C G R A Y T L A T K L R R H L K S p.600
. . . . . . g.9794
CACTTGGAGGACAAGCCCTACCGCTGCCCCACCTGTGGCATGGGCTACACCCTCCCGCAG c.1860
H L E D K P Y R C P T C G M G Y T L P Q p.620
. . . . . . g.9854
AGCCTCAGGCGGCATCAGCTCAGTCACCGGCCTGAGGCACCCTGCAGCCCACCCTCTGTG c.1920
S L R R H Q L S H R P E A P C S P P S V p.640
. . . . . . g.9914
CCTTCTGCTGCTTCTGAGCCCACTGTGGTGCTCCTGCAGGCTGAGCCACAACTGCTGGAC c.1980
P S A A S E P T V V L L Q A E P Q L L D p.660
. . . . . . g.9974
ACACACAGAGAGGAGGAAGTCTCCCCCGCCAGGGATGTTGTTGAGGTCACCATTTCAGAA c.2040
T H R E E E V S P A R D V V E V T I S E p.680
. . . . . . g.10034
AGCCAGGAGAAGTGCTTTGTGGTGCCAGAGGAGCCAGATGCCGCCCCCAGCCTGGTGCTA c.2100
S Q E K C F V V P E E P D A A P S L V L p.700
. . . . . . g.10094
ATCCATAAGGACATGGGCCTCGGCGCCTGGGCAGAGGTGGTGGAGGTGGAGATGGGCACC c.2160
I H K D M G L G A W A E V V E V E M G T p.720
g.10097
TGA c.2163
X p.720
. . . . . g.10150
cagctttgccttttgctgacacagctccataaagactcgtgctttctcactgc c.*53
(downstream sequence)
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