(used for variant description)
(last modified February 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_022567.2 in the NYX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009112.1, covering NYX transcript NM_022567.2.
(upstream sequence)
. g.5010
ggctgaggga c.-421
. . . . . . g.5070
gtggagggggacctcagaggagcaggaccagggagactcccaggacggtaagcaacattt c.-361
. . . . . . g.5130
gaggaccattcactaacgcttctctgcaggggtttcctctccatccatttccttgctggg c.-301
. . . . . . g.5190
ttgtcagtgatgccatctgagttgctgtcagggctgtagcctgacaaagggtttcctaat c.-241
. . . . . . g.5250
agatccaaactgtccatttgtggggagcttctgattttctgttgttactggtttccctta c.-181
. . . . . . g.5310
gcccaacaccagggtcattaagaaggaaggaatgtgaggaagaaagaaaggcagggcatt c.-121
. . . . . . g.5370
caggaagaagtgtggaggcatgggagggttctcatggggccctcctgggcactgggtgac c.-61
. . . . . . g.5430
ctgtcctttctcccctcaggtaggggtcccacggctgggtggtcctaagccactgggtgg c.-1
. . . | 02. . . g.31054
ATGAAAGGCCGAGGGATGTTGGTCCTGCTTCTGCATG | CGGTGGTCCTCGGCCTGCCCAGC c.60
M K G R G M L V L L L H A | V V L G L P S p.20
. . . . . . g.31114
GCCTGGGCCGTGGGGGCCTGCGCCCGCGCTTGTCCCGCCGCCTGCGCCTGCAGCACCGTG c.120
A W A V G A C A R A C P A A C A C S T V p.40
. . . . . . g.31174
GAGCGCGGCTGCTCGGTGCGCTGCGACCGCGCGGGCCTCCTGCGGGTGCCGGCCGAGCTC c.180
E R G C S V R C D R A G L L R V P A E L p.60
. . . . . . g.31234
CCGTGCGAGGCGGTCTCCATCGACCTGGACCGGAACGGCCTGCGCTTCCTGGGCGAGCGA c.240
P C E A V S I D L D R N G L R F L G E R p.80
. . . . . . g.31294
GCCTTCGGCACGCTGCCGTCCTTGCGCCGCCTGTCGCTGCGCCACAACAACCTGTCCTTC c.300
A F G T L P S L R R L S L R H N N L S F p.100
. . . . . . g.31354
ATCACGCCCGGCGCCTTCAAGGGCCTGCCGCGCCTGGCTGAGCTGCGCCTGGCGCACAAC c.360
I T P G A F K G L P R L A E L R L A H N p.120
. . . . . . g.31414
GGCGACCTGCGCTACCTGCACGCGCGCACCTTCGCGGCGCTCAGCCGCCTGCGCCGCCTA c.420
G D L R Y L H A R T F A A L S R L R R L p.140
. . . . . . g.31474
GACCTAGCAGCCTGCCGCCTCTTCAGCGTGCCCGAGCGCCTCCTGGCCGAACTGCCGGCC c.480
D L A A C R L F S V P E R L L A E L P A p.160
. . . . . . g.31534
CTGCGCGAACTCGCCGCCTTCGACAACCTGTTCCGCCGCGTGCCGGGCGCGCTGCGCGGC c.540
L R E L A A F D N L F R R V P G A L R G p.180
. . . . . . g.31594
CTGGCCAACCTGACGCACGCGCACCTGGAGCGCGGCCGCATCGAGGCGGTGGCCTCCAGC c.600
L A N L T H A H L E R G R I E A V A S S p.200
. . . . . . g.31654
TCGCTGCAGGGCCTGCGCCGCCTGCGCTCGCTCAGCCTGCAGGCCAACCGCGTCCGTGCC c.660
S L Q G L R R L R S L S L Q A N R V R A p.220
. . . . . . g.31714
GTGCACGCTGGCGCCTTCGGGGACTGTGGCGTCCTGGAGCATCTGCTGCTCAACGACAAC c.720
V H A G A F G D C G V L E H L L L N D N p.240
. . . . . . g.31774
CTGCTGGCCGAGCTCCCGGCCGACGCCTTCCGCGGCCTGCGGCGCCTGCGCACGCTCAAC c.780
L L A E L P A D A F R G L R R L R T L N p.260
. . . . . . g.31834
CTGGGTGGCAACGCGCTGGACCGCGTGGCGCGCGCCTGGTTCGCTGACCTGGCCGAGCTC c.840
L G G N A L D R V A R A W F A D L A E L p.280
. . . . . . g.31894
GAGCTGCTCTACCTGGACCGCAACAGCATCGCCTTCGTGGAGGAGGGCGCCTTCCAGAAC c.900
E L L Y L D R N S I A F V E E G A F Q N p.300
. . . . . . g.31954
CTCTCGGGTCTCCTCGCGCTGCACCTCAACGGCAACCGCCTCACCGTGCTCGCCTGGGTC c.960
L S G L L A L H L N G N R L T V L A W V p.320
. . . . . . g.32014
GCCTTCCAGCCCGGCTTCTTCCTGGGCCGCCTCTTCCTCTTCCGCAACCCGTGGTGCTGC c.1020
A F Q P G F F L G R L F L F R N P W C C p.340
. . . . . . g.32074
GACTGCCGTCTGGAGTGGCTGAGGGACTGGATGGAGGGCTCCGGACGTGTCACCGACGTG c.1080
D C R L E W L R D W M E G S G R V T D V p.360
. . . . . . g.32134
CCGTGCGCCTCCCCGGGCTCCGTGGCCGGCCTGGACCTCAGCCAGGTGACCTTCGGGCGC c.1140
P C A S P G S V A G L D L S Q V T F G R p.380
. . . . . . g.32194
TCCTCCGATGGCCTCTGTGTGGACCCCGAGGAGCTGAACCTCACCACGTCCAGTCCAGGC c.1200
S S D G L C V D P E E L N L T T S S P G p.400
. . . . . . g.32254
CCGTCCCCAGAACCAGCGGCCACCACCGTGAGCAGGTTCAGCAGCCTCCTCTCCAAGCTG c.1260
P S P E P A A T T V S R F S S L L S K L p.420
. . . . . . g.32314
CTGGCCCCGAGGGTCCCGGTGGAGGAGGCGGCCAACACCACTGGGGGGCTGGCCAACGCC c.1320
L A P R V P V E E A A N T T G G L A N A p.440
. . . . . . g.32374
TCCCTGTCCGACAGCCTCTCCTCCCGTGGGGTGGGAGGCGCGGGCCGGCAGCCCTGGTTT c.1380
S L S D S L S S R G V G G A G R Q P W F p.460
. . . . . . g.32434
CTCCTCGCCTCTTGTCTCCTGCCCAGCGTGGCCCAGCACGTGGTGTTTGGCCTGCAGATG c.1440
L L A S C L L P S V A Q H V V F G L Q M p.480
g.32440
GACTGA c.1446
D X p.481
. . . . . . g.32500
cctggccagaggggggaaagtttgcttaactgggcttgagtgtgtttgtggtaaggggag c.*60
. . . . . . g.32560
aggagccggaatggagggcagaggtgaaaatcccagtggagggtggaaggaaccgtttgc c.*120
. . . . . . g.32620
ctccagagatggccccagggagaacacagggacgtgccactcgagggggaggatggtatg c.*180
. . . . . . g.32680
gatttctgcttttgtcacacgggcatccattggaaaagagaagcaagaatgaacgtgggc c.*240
. . . . . . g.32740
cctcgggtgggaagactaggaatcggaagcttctagggcttcacatcccttcccctcccc c.*300
. . . . . . g.32800
tccccttcccctcatcttccaggcaacagtgcctgcaaggcctgaattagagagacttcc c.*360
. . . . . . g.32860
attggctaagtagttaagagccgtcccatttctcctggcggggtaacccattacaccgaa c.*420
. . . . . . g.32920
gtcctttgttttctaccacaatcctcctcctcctctccaggggcctggaaacactaggat c.*480
. . . . . . g.32980
tcaggaaggtaggcaggacgtgagagaagggagatgggagagagatttaagacaaagggt c.*540
. . . . . . g.33040
ggcggtggttcctggggtctgagatgtgttaggaggcgtttaaaacaaagatccagttca c.*600
. . . . . . g.33100
tttactccacagttattcccagggctggccctagccacaaaggaactttagggcagggta c.*660
. . . . . . g.33160
gggaaaaaaggggcagcagggggtgtgtttgtggacaaataaatttgtaaagtccgagga c.*720
. . . g.33193
ttaaaaaaaaaaaaaggttaaaccggtttctct c.*753
(downstream sequence)
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