(used for variant description)
(last modified May 3, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000625.4 in the NOS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011470.1, covering NOS2 transcript NM_000625.4.
(upstream sequence)
. . g.5024
ataactttgtagcgagtcgaaaac c.-241
. . . . . . g.5084
tgaggctccggccgcagagaactcagcctcattcctgctttaaaatctctcggccacctt c.-181
. . . . . . g.5144
tgatgaggggactgggcagttctagacagtcccgaagttctcaaggcacaggtctcttcc c.-121
. . . . . | 02 . g.6660
tggtttgactgtccttaccccggggaggcagtgcagccagctgcaag | ccccacagtgaag c.-61
. . . . . . g.6720
aacatctgagctcaaatccagataagtgacataagtgacctgctttgtaaagccatagag c.-1
. . . . . . g.6780
ATGGCCTGTCCTTGGAAATTTCTGTTCAAGACCAAATTCCACCAGTATGCAATGAATGGG c.60
M A C P W K F L F K T K F H Q Y A M N G p.20
. . . . . | 03 . g.15851
GAAAAAGACATCAACAACAATGTGGAGAAAGCCCCCTGTGCCACCTCCAG | TCCAGTGACA c.120
E K D I N N N V E K A P C A T S S | P V T p.40
. . . . . . g.15911
CAGGATGACCTTCAGTATCACAACCTCAGCAAGCAGCAGAATGAGTCCCCGCAGCCCCTC c.180
Q D D L Q Y H N L S K Q Q N E S P Q P L p.60
. | 04 . . . . . g.16643
GTGGAGACGGGAAAG | AAGTCTCCAGAATCTCTGGTCAAGCTGGATGCAACCCCATTGTCC c.240
V E T G K | K S P E S L V K L D A T P L S p.80
. . . . . . g.16703
TCCCCACGGCATGTGAGGATCAAAAACTGGGGCAGCGGGATGACTTTCCAAGACACACTT c.300
S P R H V R I K N W G S G M T F Q D T L p.100
. | 05 . . . . g.17745
CACCATAAGGCCAAAGGG | ATTTTAACTTGCAGGTCCAAATCTTGCCTGGGGTCCATTATG c.360
H H K A K G | I L T C R S K S C L G S I M p.120
. . . . . . g.17805
ACTCCCAAAAGTTTGACCAGAGGACCCAGGGACAAGCCTACCCCTCCAGATGAGCTTCTA c.420
T P K S L T R G P R D K P T P P D E L L p.140
. . . . | 06. . g.22436
CCTCAAGCTATCGAATTTGTCAACCAATATTACGGCTCCTTCAAAGA | GGCAAAAATAGAG c.480
P Q A I E F V N Q Y Y G S F K E | A K I E p.160
. . . . . . g.22496
GAACATCTGGCCAGGGTGGAAGCGGTAACAAAGGAGATAGAAACAACAGGAACCTACCAA c.540
E H L A R V E A V T K E I E T T G T Y Q p.180
. . . . . . g.22556
CTGACGGGAGATGAGCTCATCTTCGCCACCAAGCAGGCCTGGCGCAATGCCCCACGCTGC c.600
L T G D E L I F A T K Q A W R N A P R C p.200
. . . | 07 . . . g.23453
ATTGGGAGGATCCAGTGGTCCAACCTGCAG | GTCTTCGATGCCCGCAGCTGTTCCACTGCC c.660
I G R I Q W S N L Q | V F D A R S C S T A p.220
. . . . . . g.23513
CGGGAAATGTTTGAACACATCTGCAGACACGTGCGTTACTCCACCAACAATGGCAACATC c.720
R E M F E H I C R H V R Y S T N N G N I p.240
| 08 . . . . . . g.24410
AG | GTCGGCCATCACCGTGTTCCCCCAGCGGAGTGATGGCAAGCACGACTTCCGGGTGTGG c.780
R | S A I T V F P Q R S D G K H D F R V W p.260
. . . . . . g.24470
AATGCTCAGCTCATCCGCTATGCTGGCTACCAGATGCCAGATGGCAGCATCAGAGGGGAC c.840
N A Q L I R Y A G Y Q M P D G S I R G D p.280
. . | 09 . . . . g.24659
CCTGCCAACGTGGAATTCACTCAG | CTGTGCATCGACCTGGGCTGGAAGCCCAAGTACGGC c.900
P A N V E F T Q | L C I D L G W K P K Y G p.300
. . . . . . g.24719
CGCTTCGATGTGGTCCCCCTGGTCCTGCAGGCCAATGGCCGTGACCCTGAGCTCTTCGAA c.960
R F D V V P L V L Q A N G R D P E L F E p.320
. . . . | 10 . . g.26489
ATCCCACCTGACCTTGTGCTTGAGGTGGCCATGGAACATCCCAA | ATACGAGTGGTTTCGG c.1020
I P P D L V L E V A M E H P K | Y E W F R p.340
. . . . . . g.26549
GAACTGGAGCTAAAGTGGTACGCCCTGCCTGCAGTGGCCAACATGCTGCTTGAGGTGGGC c.1080
E L E L K W Y A L P A V A N M L L E V G p.360
. . . . . . g.26609
GGCCTGGAGTTCCCAGGGTGCCCCTTCAATGGCTGGTACATGGGCACAGAGATCGGAGTC c.1140
G L E F P G C P F N G W Y M G T E I G V p.380
. . . | 11 . . g.26759
CGGGACTTCTGTGACGTCCAGCGCTACAACATCCTGGAG | GAAGTGGGCAGGAGAATGGGC c.1200
R D F C D V Q R Y N I L E | E V G R R M G p.400
. . . . . . g.26819
CTGGAAACGCACAAGCTGGCCTCGCTCTGGAAAGACCAGGCTGTCGTTGAGATCAACATT c.1260
L E T H K L A S L W K D Q A V V E I N I p.420
. . | 12 . . . . g.31117
GCTGTGCTCCATAGTTTCCAG | AAGCAGAATGTGACCATCATGGACCACCACTCGGCTGCA c.1320
A V L H S F Q | K Q N V T I M D H H S A A p.440
. . . . . . g.31177
GAATCCTTCATGAAGTACATGCAGAATGAATACCGGTCCCGTGGGGGCTGCCCGGCAGAC c.1380
E S F M K Y M Q N E Y R S R G G C P A D p.460
. . . . . . g.31237
TGGATTTGGCTGGTCCCTCCCATGTCTGGGAGCATCACCCCCGTGTTTCACCAGGAGATG c.1440
W I W L V P P M S G S I T P V F H Q E M p.480
. . . | 13 . . . g.32310
CTGAACTACGTCCTGTCCCCTTTCTACTACTATCAG | GTAGAGGCCTGGAAAACCCATGTC c.1500
L N Y V L S P F Y Y Y Q | V E A W K T H V p.500
. . . . . | 14 g.33078
TGGCAGGACGAGAAGCGGAGACCCAAGAGAAGAGAGATTCCATTGAAAGTCTTGGTCAA | A c.1560
W Q D E K R R P K R R E I P L K V L V K | p.520
. . . . . . g.33138
GCTGTGCTCTTTGCCTGTATGCTGATGCGCAAGACAATGGCGTCCCGAGTCAGAGTCACC c.1620
A V L F A C M L M R K T M A S R V R V T p.540
. . . . . . g.33198
ATCCTCTTTGCGACAGAGACAGGAAAATCAGAGGCGCTGGCCTGGGACCTGGGGGCCTTA c.1680
I L F A T E T G K S E A L A W D L G A L p.560
. . | 15 . . . . g.34548
TTCAGCTGTGCCTTCAACCCCAAG | GTTGTCTGCATGGATAAGTACAGGCTGAGCTGCCTG c.1740
F S C A F N P K | V V C M D K Y R L S C L p.580
. . . . . . g.34608
GAGGAGGAACGGCTGCTGTTGGTGGTGACCAGTACGTTTGGCAATGGAGACTGCCCTGGC c.1800
E E E R L L L V V T S T F G N G D C P G p.600
| 16 . . . . | 17 g.36379
AATGGAGAG | AAACTGAAGAAATCGCTCTTCATGCTGAAAGAGCTCAACAACAAATTCAG | G c.1860
N G E | K L K K S L F M L K E L N N K F R | p.620
. . . . . . g.36439
TACGCTGTGTTTGGCCTCGGCTCCAGCATGTACCCTCGGTTCTGCGCCTTTGCTCATGAC c.1920
Y A V F G L G S S M Y P R F C A F A H D p.640
. . . . . . g.36499
ATTGATCAGAAGCTGTCCCACCTGGGGGCCTCTCAGCTCACCCCGATGGGAGAAGGGGAT c.1980
I D Q K L S H L G A S Q L T P M G E G D p.660
. . . . . | 18 . g.37698
GAGCTCAGTGGGCAGGAGGACGCCTTCCGCAGCTGGGCCGTGCAAACCTTCAAG | GCAGCC c.2040
E L S G Q E D A F R S W A V Q T F K | A A p.680
. . . . . . g.37758
TGTGAGACGTTTGATGTCCGAGGCAAACAGCACATTCAGATCCCCAAGCTCTACACCTCC c.2100
C E T F D V R G K Q H I Q I P K L Y T S p.700
. . . . . . g.37818
AATGTGACCTGGGACCCGCACCACTACAGGCTCGTGCAGGACTCACAGCCTTTGGACCTC c.2160
N V T W D P H H Y R L V Q D S Q P L D L p.720
| 19. . . . . . g.38994
AGCAAAG | CCCTCAGCAGCATGCATGCCAAGAACGTGTTCACCATGAGGCTCAAATCTCGG c.2220
S K A | L S S M H A K N V F T M R L K S R p.740
. . | 20 . . . . g.39847
CAGAATCTACAAAGTCCGACATCCAG | CCGTGCCACCATCCTGGTGGAACTCTCCTGTGAG c.2280
Q N L Q S P T S S | R A T I L V E L S C E p.760
. . . . . . g.39907
GATGGCCAAGGCCTGAACTACCTGCCGGGGGAGCACCTTGGGGTTTGCCCAGGCAACCAG c.2340
D G Q G L N Y L P G E H L G V C P G N Q p.780
. . . . . . g.39967
CCGGCCCTGGTCCAAGGTATCCTGGAGCGAGTGGTGGATGGCCCCACACCCCACCAGACA c.2400
P A L V Q G I L E R V V D G P T P H Q T p.800
. . | 21 . . . g.41417
GTGCGCCTGGAGGCCCTGGATGAGAGTG | GCAGCTACTGGGTCAGTGACAAGAGGCTGCCC c.2460
V R L E A L D E S G | S Y W V S D K R L P p.820
. . . . . . g.41477
CCCTGCTCACTCAGCCAGGCCCTCACCTACTTCCTGGACATCACCACACCCCCAACCCAG c.2520
P C S L S Q A L T Y F L D I T T P P T Q p.840
. . . . . . g.41537
CTGCTGCTCCAAAAGCTGGCCCAGGTGGCCACAGAAGAGCCTGAGAGACAGAGGCTGGAG c.2580
L L L Q K L A Q V A T E E P E R Q R L E p.860
. | 22 . . . . . g.42572
GCCCTGTGCCAG | CCCTCAGAGTACAGCAAGTGGAAGTTCACCAACAGCCCCACATTCCTG c.2640
A L C Q | P S E Y S K W K F T N S P T F L p.880
. . . . . . g.42632
GAGGTGCTAGAGGAGTTCCCGTCCCTGCGGGTGTCTGCTGGCTTCCTGCTTTCCCAGCTC c.2700
E V L E E F P S L R V S A G F L L S Q L p.900
. . . . . . g.42692
CCCATTCTGAAGCCCAGGTTCTACTCCATCAGCTCCTCCCGGGATCACACGCCCACAGAG c.2760
P I L K P R F Y S I S S S R D H T P T E p.920
. . . . | 23 . . g.44318
ATCCACCTGACTGTGGCCGTGGTCACCTACCACACCCGAG | ATGGCCAGGGTCCCCTGCAC c.2820
I H L T V A V V T Y H T R D | G Q G P L H p.940
. . . . . . g.44378
CACGGCGTCTGCAGCACATGGCTCAACAGCCTGAAGCCCCAAGACCCAGTGCCCTGCTTT c.2880
H G V C S T W L N S L K P Q D P V P C F p.960
| 24 . . . . . g.44837
GTGCGGAA | TGCCAGCGGCTTCCACCTCCCCGAGGATCCCTCCCATCCTTGCATCCTCATC c.2940
V R N | A S G F H L P E D P S H P C I L I p.980
. . . . . . g.44897
GGGCCTGGCACAGGCATCGCGCCCTTCCGCAGTTTCTGGCAGCAACGGCTCCATGACTCC c.3000
G P G T G I A P F R S F W Q Q R L H D S p.1000
. | 25 . . . . . g.45401
CAGCACAAGG | GAGTGCGGGGAGGCCGCATGACCTTGGTGTTTGGGTGCCGCCGCCCAGAT c.3060
Q H K G | V R G G R M T L V F G C R R P D p.1020
. . . . . . g.45461
GAGGACCACATCTACCAGGAGGAGATGCTGGAGATGGCCCAGAAGGGGGTGCTGCATGCG c.3120
E D H I Y Q E E M L E M A Q K G V L H A p.1040
. . . | 26 . . g.46475
GTGCACACAGCCTATTCCCGCCTGCCTGGCAAGCCCAAG | GTCTATGTTCAGGACATCCTG c.3180
V H T A Y S R L P G K P K | V Y V Q D I L p.1060
. . . . . . g.46535
CGGCAGCAGCTGGCCAGCGAGGTGCTCCGTGTGCTCCACAAGGAGCCAGGCCACCTCTAT c.3240
R Q Q L A S E V L R V L H K E P G H L Y p.1080
. . . . . . g.46595
GTTTGCGGGGATGTGCGCATGGCCCGGGACGTGGCCCACACCCTGAAGCAGCTGGTGGCT c.3300
V C G D V R M A R D V A H T L K Q L V A p.1100
. . . . . | 27 . g.48182
GCCAAGCTGAAATTGAATGAGGAGCAGGTCGAGGACTATTTCTTTCAGCTCAAG | AGCCAG c.3360
A K L K L N E E Q V E D Y F F Q L K | S Q p.1120
. . . . . . g.48242
AAGCGCTATCACGAAGATATCTTTGGTGCTGTATTTCCTTACGAGGCGAAGAAGGACAGG c.3420
K R Y H E D I F G A V F P Y E A K K D R p.1140
. . . . g.48284
GTGGCGGTGCAGCCCAGCAGCCTGGAGATGTCAGCGCTCTGA c.3462
V A V Q P S S L E M S A L X p.1153
. . . . . . g.48344
gggcctacaggaggggttaaagctgccggcacagaacttaaggatggagccagctctgca c.*60
. . . . . . g.48404
ttatctgaggtcacagggcctggggagatggaggaaagtgatatcccccagcctcaagtc c.*120
. . . . . . g.48464
ttatttcctcaacgttgctccccatcaagccctttacttgacctcctaacaagtagcacc c.*180
. . . . . . g.48524
ctggattgatcggagcctcctctctcaaactggggcctccctggtcccttggagacaaaa c.*240
. . . . . . g.48584
tcttaaatgccaggcctggcaagtgggtgaaagatggaacttgctgctgagtgcaccact c.*300
. . . . . . g.48644
tcaagtgaccaccaggaggtgctatcgcaccactgtgtatttaactgccttgtgtacagt c.*360
. . . . . . g.48704
tatttatgcctctgtatttaaaaaactaacacccagtctgttccccatggccacttgggt c.*420
. . . . . . g.48764
cttccctgtatgattccttgatggagatatttacatgaattgcattttactttaatcaca c.*480
(downstream sequence)
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