(used for variant description)
(last modified January 6, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_018161.4 in the NADSYN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering NADSYN1 transcript NM_018161.4.
(upstream sequence)
g.5006
aacgga c.-121
. . . . . . g.5066
tgggcggggagggggcggggccgggcaacccggaaggtccggcgtcccagccgcctacct c.-61
. . . . . . g.5126
cgctgggaccctggtcttgctgtcccccgctggcctcctgcccaagcgactgcggccagg c.-1
. . . . . . g.5186
ATGGGCCGGAAGGTGACCGTGGCCACCTGCGCACTCAACCAGTGGGCCCTGGACTTCGAG c.60
M G R K V T V A T C A L N Q W A L D F E p.20
. . | 02 . . . . g.6974
GGCAATTTGCAAAGAATTTTAAAGA | GTATTGAAATTGCCAAAAACAGAGGAGCAAGATAC c.120
G N L Q R I L K S | I E I A K N R G A R Y p.40
. . | 03 . . . . g.10291
AGGCTTGGACCAGAGCTGGAAATATG | CGGCTACGGATGTTGGGATCATTATTACGAGTCG c.180
R L G P E L E I C | G Y G C W D H Y Y E S p.60
. . . . . . g.10351
GACACCCTCTTGCACTCGTTTCAAGTCCTAGCGGCCCTTGTGGAGTCTCCCGTCACTCAG c.240
D T L L H S F Q V L A A L V E S P V T Q p.80
. . | 04 . . . . g.15298
GACATCATCTGCGACGTGGGGAT | GCCTGTAATGCACCGAAACGTCCGCTACAACTGCAGA c.300
D I I C D V G M | P V M H R N V R Y N C R p.100
. | 05. . . . . g.15925
GTGATATTCCTCAACAG | GAAGATCCTGCTCATCAGACCCAAGATGGCCTTGGCCAATGAA c.360
V I F L N R | K I L L I R P K M A L A N E p.120
. . . . | 06. . g.24291
GGCAACTACCGCGAGCTGCGCTGGTTCACCCCGTGGTCGAGGAGTCG | GCACACAGAGGAG c.420
G N Y R E L R W F T P W S R S R | H T E E p.140
. . . | 07 . . g.25128
TACTTTCTGCCTCGGATGATACAGGACCTGACAAAGCAG | GAAACCGTACCCTTCGGAGAT c.480
Y F L P R M I Q D L T K Q | E T V P F G D p.160
. . . . . . g.25188
GCGGTGCTGGTGACATGGGACACCTGCATTGGAAGTGAGATCTGTGAGGAGCTCTGGACA c.540
A V L V T W D T C I G S E I C E E L W T p.180
| 08 . . . . . g.25450
CCCCACAG | CCCGCACATCGACATGGGCCTGGATGGCGTGGAGATCATCACCAACGCCTCG c.600
P H S | P H I D M G L D G V E I I T N A S p.200
. . . . . . g.25510
GGCAGCCACCAAGTGCTGCGCAAAGCCAACACCAGGGTGGATCTCGTGACTATGGTCACC c.660
G S H Q V L R K A N T R V D L V T M V T p.220
| 09 . . . . . . g.26278
AGCAAG | AACGGTGGGATTTACTTGCTGGCCAACCAGAAGGGTTGTGACGGGGACCGCCTG c.720
S K | N G G I Y L L A N Q K G C D G D R L p.240
. . . . . . g.26338
TACTACGACGGCTGTGCCATGATTGCCATGAACGGAAGCGTCTTTGCTCAAGGATCCCAG c.780
Y Y D G C A M I A M N G S V F A Q G S Q p.260
. | 10 . . . . g.30266
TTTTCTCTGGATGACGTG | GAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGC c.840
F S L D D V | E V L T A T L D L E D V R S p.280
. . . | 11 . . . g.32611
TACAGGGCGGAGATTTCATCTCGAAACCTGGCG | GCCAGCAGGGCGAGCCCCTACCCCAGA c.900
Y R A E I S S R N L A | A S R A S P Y P R p.300
. . . . . . g.32671
GTGAAGGTGGACTTTGCCCTCTCGTGCCACGAGGACTTGCTGGCACCCATCTCTGAGCCC c.960
V K V D F A L S C H E D L L A P I S E P p.320
. . . | 12 . . g.33207
ATCGAGTGGAAATACCACAGCCCTGAGGAGGAGATAAG | CCTTGGACCTGCCTGCTGGCTC c.1020
I E W K Y H S P E E E I S | L G P A C W L p.340
. . | 13. . . . g.33785
TGGGATTTTTTAAGACGAAGTCAACAG | GCAGGGTTTTTGCTGCCCTTGAGTGGCGGGGTG c.1080
W D F L R R S Q Q | A G F L L P L S G G V p.360
. . . . . . g.33845
GACAGCGCAGCCACCGCCTGCCTCATCTACTCCATGTGCTGCCAGGTCTGCGAGGCCGTG c.1140
D S A A T A C L I Y S M C C Q V C E A V p.380
. | 14 . . . . . g.34728
AGGAGTGGAA | ATGAGGAAGTGCTGGCTGATGTCCGCACCATCGTGAACCAGATCAGCTAC c.1200
R S G N | E E V L A D V R T I V N Q I S Y p.400
. . . . . . g.34788
ACCCCCCAGGATCCCCGAGACCTCTGTGGACGCATACTGACCACCTGCTACATGGCCAGC c.1260
T P Q D P R D L C G R I L T T C Y M A S p.420
. . . . . | 15 g.36142
AAGAACTCCTCCCAGGAGACGTGCACCCGGGCCAGAGAGTTGGCCCAGCAGATTGGAAG | C c.1320
K N S S Q E T C T R A R E L A Q Q I G S | p.440
. . . . . . g.36202
CACCACATCAGTCTCAACATCGATCCAGCCGTGAAGGCCGTCATGGGCATCTTCAGCCTG c.1380
H H I S L N I D P A V K A V M G I F S L p.460
. . . . . . g.36262
GTGACGGGGAAGAGCCCTCTGTTTGCAGCTCATGGAGGAAGCAGCAGGGAAAACCTGGCG c.1440
V T G K S P L F A A H G G S S R E N L A p.480
. | 16 . . . . . g.37416
CTGCAAAATGTGCAG | GCTCGAATACGGATGGTCCTCGCCTATCTGTTTGCTCAGTTGAGC c.1500
L Q N V Q | A R I R M V L A Y L F A Q L S p.500
. . . . . . g.37476
CTCTGGTCTCGGGGTGTCCACGGTGGGCTCCTCGTGCTGGGATCCGCCAACGTGGATGAG c.1560
L W S R G V H G G L L V L G S A N V D E p.520
| 17 . . . . . . g.42732
AG | TCTCCTGGGCTACCTGACCAAGTACGACTGCTCCAGTGCGGACATCAACCCCATAGGC c.1620
S | L L G Y L T K Y D C S S A D I N P I G p.540
. . . . . . g.42792
GGGATCAGCAAGACGGACCTCAGGGCCTTCGTCCAGTTCTGCATCCAGCGCTTCCAGCTT c.1680
G I S K T D L R A F V Q F C I Q R F Q L p.560
. | 18 . . . . . g.43709
CCTGCCCTGCAGAG | CATCCTGTTGGCGCCGGCCACCGCAGAGCTGGAGCCCTTGGCTGAT c.1740
P A L Q S | I L L A P A T A E L E P L A D p.580
. . | 19 . . . . g.49348
GGACAGGTGTCCCAGACCGACGAG | GAAGATATGGGGATGACATATGCGGAGCTCTCGGTC c.1800
G Q V S Q T D E | E D M G M T Y A E L S V p.600
. . . . . . g.49408
TATGGGAAACTCAGGAAGGTGGCCAAGATGGGGCCCTACAGCATGTTCTGCAAACTCCTC c.1860
Y G K L R K V A K M G P Y S M F C K L L p.620
. . . | 20 . . . g.50208
GGCATGTGGAGACACATCTGCACCCCGAGACAG | GTCGCTGACAAAGTGAAGCGGTTTTTC c.1920
G M W R H I C T P R Q | V A D K V K R F F p.640
. . . . . . g.50268
TCCAAGTACTCCATGAACAGACACAAGATGACCACGCTCACACCCGCGTACCACGCCGAG c.1980
S K Y S M N R H K M T T L T P A Y H A E p.660
. . . . . . g.50328
AACTACAGCCCTGAGGACAACAGGTTTGATCTGCGACCATTTCTGTACAACACAAGCTGG c.2040
N Y S P E D N R F D L R P F L Y N T S W p.680
. . . | 21 . . . g.53161
CCTTGGCAGTTTCGGTGCATAGAAAATCAG | GTGCTACAGCTCGAGAGGGCAGAGCCACAG c.2100
P W Q F R C I E N Q | V L Q L E R A E P Q p.700
. . g.53182
TCCCTGGACGGCGTGGACTGA c.2121
S L D G V D X p.706
. . . . . . g.53242
ggccggttccttcctggaggcctcctgtcctcggggaccccagcacctcatcatcagcat c.*60
. . . . . . g.53302
tgctggagccaagggtaggagccctacactaggagcccaggatgggacggcgcatcagcc c.*120
. . . . . . g.53362
gagagggagggaacttttcagtcaaattcctcaaaaagaggctggaataaagcctgggct c.*180
g.53368
taaaaa c.*186
(downstream sequence)
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