(used for variant description)
(last modified November 1, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000603.4 in the NOS3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011992.1, covering NOS3 transcript NM_000603.4.
(upstream sequence)
. . . . . g.5056
actgaaactaggggcaaggagacgaagagaacatgaaagttaaactttaagatgaa c.-241
. . . . . . g.5116
gaacaaagctgaacatactgatgcattggatctttggagaggatctcagaactcattgta c.-181
. . . . . . g.5176
cttaatttacaggctaaaaccttagaagaggaatttattatatcctacacaagactccag c.-121
. . . . . . g.5236
ggaagcacatggccttggactgaaggctggcatctggaagctgtcagccaccagcacctt c.-61
. | 02 . . . . g.7748
ctgcagcag | gaaaaggccagggctctgctggagcaggcagcagagtggacgcacagtaac c.-1
. . . . . . g.7808
ATGGGCAACTTGAAGAGCGTGGCCCAGGAGCCTGGGCCACCCTGCGGCCTGGGGCTGGGG c.60
M G N L K S V A Q E P G P P C G L G L G p.20
. . . . . . g.7868
CTGGGCCTTGGGCTGTGCGGCAAGCAGGGCCCAGCCACCCCGGCCCCTGAGCCCAGCCGG c.120
L G L G L C G K Q G P A T P A P E P S R p.40
. . . | 03 . . g.9169
GCCCCAGCATCCCTACTCCCACCAGCGCCAGAACACAG | CCCCCCGAGCTCCCCGCTAACC c.180
A P A S L L P P A P E H S | P P S S P L T p.60
. . . . . . g.9229
CAGCCCCCAGAGGGGCCCAAGTTCCCTCGTGTGAAGAACTGGGAGGTGGGGAGCATCACC c.240
Q P P E G P K F P R V K N W E V G S I T p.80
. . . | 04 . . . g.10378
TATGACACCCTCAGCGCCCAGGCGCAGCAG | GATGGGCCCTGCACCCCAAGACGCTGCCTG c.300
Y D T L S A Q A Q Q | D G P C T P R R C L p.100
. . . . . . g.10438
GGCTCCCTGGTATTTCCACGGAAACTACAGGGCCGGCCCTCCCCCGGCCCCCCGGCCCCT c.360
G S L V F P R K L Q G R P S P G P P A P p.120
. . . . . | 05 g.10708
GAGCAGCTGCTGAGTCAGGCCCGGGACTTCATCAACCAGTACTACAGCTCCATTAAGAG | G c.420
E Q L L S Q A R D F I N Q Y Y S S I K R | p.140
. . . . . . g.10768
AGCGGCTCCCAGGCCCACGAACAGCGGCTTCAAGAGGTGGAAGCCGAGGTGGCAGCCACA c.480
S G S Q A H E Q R L Q E V E A E V A A T p.160
. . . . . . g.10828
GGCACCTACCAGCTTAGGGAGAGCGAGCTGGTGTTCGGGGCTAAGCAGGCCTGGCGCAAC c.540
G T Y Q L R E S E L V F G A K Q A W R N p.180
. . . . | 06 . . g.12319
GCTCCCCGCTGCGTGGGCCGGATCCAGTGGGGGAAGCTGCAG | GTGTTCGATGCCCGGGAC c.600
A P R C V G R I Q W G K L Q | V F D A R D p.200
. . . . . . g.12379
TGCAGGTCTGCACAGGAAATGTTCACCTACATCTGCAACCACATCAAGTATGCCACCAAC c.660
C R S A Q E M F T Y I C N H I K Y A T N p.220
. | 07 . . . . . g.12529
CGGGGCAACCTTCG | CTCGGCCATCACAGTGTTCCCGCAGCGCTGCCCTGGCCGAGGAGAC c.720
R G N L R | S A I T V F P Q R C P G R G D p.240
. . . . . . g.12589
TTCCGAATCTGGAACAGCCAGCTGGTGCGCTACGCGGGCTACCGGCAGCAGGATGGCTCT c.780
F R I W N S Q L V R Y A G Y R Q Q D G S p.260
. . . | 08 . . . g.12914
GTGCGGGGGGACCCAGCCAACGTGGAGATCACCGAG | CTCTGCATTCAGCACGGCTGGACC c.840
V R G D P A N V E I T E | L C I Q H G W T p.280
. . . . . . g.12974
CCAGGAAACGGTCGCTTCGACGTGCTGCCCCTGCTGCTGCAGGCCCCAGATGATCCCCCA c.900
P G N G R F D V L P L L L Q A P D D P P p.300
. . . . . | 09 . g.13138
GAACTCTTCCTTCTGCCCCCCGAGCTGGTCCTTGAGGTGCCCCTGGAGCACCCCAC | GCTG c.960
E L F L L P P E L V L E V P L E H P T | L p.320
. . . . . . g.13198
GAGTGGTTTGCAGCCCTGGGCCTGCGCTGGTACGCCCTCCCGGCAGTGTCCAACATGCTG c.1020
E W F A A L G L R W Y A L P A V S N M L p.340
. . . . . . g.13258
CTGGAAATTGGGGGCCTGGAGTTCCCCGCAGCCCCCTTCAGTGGCTGGTACATGAGCACT c.1080
L E I G G L E F P A A P F S G W Y M S T p.360
. . . . . | 10 . g.14451
GAGATCGGCACGAGGAACCTGTGTGACCCTCACCGCTACAACATCCTGGAG | GATGTGGCT c.1140
E I G T R N L C D P H R Y N I L E | D V A p.380
. . . . . . g.14511
GTCTGCATGGACCTGGATACCCGGACCACCTCGTCCCTGTGGAAAGACAAGGCAGCAGTG c.1200
V C M D L D T R T T S S L W K D K A A V p.400
. . . | 11 . . . g.15202
GAAATCAACGTGGCCGTGCTGCACAGTTACCAG | CTAGCCAAAGTCACCATCGTGGACCAC c.1260
E I N V A V L H S Y Q | L A K V T I V D H p.420
. . . . . . g.15262
CACGCCGCCACGGCCTCTTTCATGAAGCACCTGGAGAATGAGCAGAAGGCCAGGGGGGGC c.1320
H A A T A S F M K H L E N E Q K A R G G p.440
. . . . . . g.15322
TGCCCTGCAGACTGGGCCTGGATCGTGCCCCCCATCTCGGGCAGCCTCACTCCTGTTTTC c.1380
C P A D W A W I V P P I S G S L T P V F p.460
. . . . | 12 . g.15500
CATCAGGAGATGGTCAACTATTTCCTGTCCCCGGCCTTCCGCTACCAG | CCAGACCCCTGG c.1440
H Q E M V N Y F L S P A F R Y Q | P D P W p.480
. . . . . . g.15560
AAGGGGAGTGCCGCCAAGGGCACCGGCATCACCAGGAAGAAGACCTTTAAAGAAGTGGCC c.1500
K G S A A K G T G I T R K K T F K E V A p.500
| 13 . . . . . . g.15823
AA | CGCCGTGAAGATCTCCGCCTCGCTCATGGGCACGGTGATGGCGAAGCGAGTGAAGGCG c.1560
N | A V K I S A S L M G T V M A K R V K A p.520
. . . . . . g.15883
ACAATCCTGTATGGCTCCGAGACCGGCCGGGCCCAGAGCTACGCACAGCAGCTGGGGAGA c.1620
T I L Y G S E T G R A Q S Y A Q Q L G R p.540
. . | 14. . . . g.16177
CTCTTCCGGAAGGCTTTTGATCCCCGG | GTCCTGTGTATGGATGAGTATGACGTGGTGTCC c.1680
L F R K A F D P R | V L C M D E Y D V V S p.560
. . . . . . g.16237
CTCGAACACGAGACGCTGGTGCTGGTGGTAACCAGCACATTTGGGAATGGGGATCCCCCG c.1740
L E H E T L V L V V T S T F G N G D P P p.580
. | 15 . . . . . g.20419
GAGAATGGAGAG | AGCTTTGCAGCTGCCCTGATGGAGATGTCCGGCCCCTACAACAGCTCC c.1800
E N G E | S F A A A L M E M S G P Y N S S p.600
. . | 16 . . . . g.20873
CCTCGGCCGGAACAGCACAA | GAGTTATAAGATCCGCTTCAACAGCATCTCCTGCTCAGAC c.1860
P R P E Q H K | S Y K I R F N S I S C S D p.620
. . . . . . g.20933
CCACTGGTGTCCTCTTGGCGGCGGAAGAGGAAGGAGTCCAGTAACACAGACAGTGCAGGG c.1920
P L V S S W R R K R K E S S N T D S A G p.640
. | 17. . . . . g.21089
GCCCTGGGCACCCTCAG | GTTCTGTGTGTTCGGGCTCGGCTCCCGGGCATACCCCCACTTC c.1980
A L G T L R | F C V F G L G S R A Y P H F p.660
. . . . . . g.21149
TGCGCCTTTGCTCGTGCCGTGGACACACGGCTGGAGGAACTGGGCGGGGAGCGGCTGCTG c.2040
C A F A R A V D T R L E E L G G E R L L p.680
. . . . . . g.21209
CAGCTGGGCCAGGGCGACGAGCTGTGCGGCCAGGAGGAGGCCTTCCGAGGCTGGGCCCAG c.2100
Q L G Q G D E L C G Q E E A F R G W A Q p.700
. | 18 . . . . . g.22922
GCTGCCTTCCAG | GCCGCCTGTGAGACCTTCTGTGTGGGAGAGGATGCCAAGGCCGCCGCC c.2160
A A F Q | A A C E T F C V G E D A K A A A p.720
. . . . . . g.22982
CGAGACATCTTCAGCCCCAAACGGAGCTGGAAGCGCCAGAGGTACCGGCTGAGCGCCCAG c.2220
R D I F S P K R S W K R Q R Y R L S A Q p.740
. . | 19 . . . . g.23168
GCCGAGGGCCTGCAGTTGCTGCCAG | GTCTGATCCACGTGCACAGGCGGAAGATGTTCCAG c.2280
A E G L Q L L P G | L I H V H R R K M F Q p.760
. . . . | 20 . . g.23358
GCTACAATCCGCTCAGTGGAAAACCTGCAAAGCAGCAAGTCCAC | GAGGGCCACCATCCTG c.2340
A T I R S V E N L Q S S K S T | R A T I L p.780
. . . . . . g.23418
GTGCGCCTGGACACCGGAGGCCAGGAGGGGCTGCAGTACCAGCCGGGGGACCACATAGGT c.2400
V R L D T G G Q E G L Q Y Q P G D H I G p.800
. . . . . . g.23478
GTCTGCCCGCCCAACCGGCCCGGCCTTGTGGAGGCGCTGCTGAGCCGCGTGGAGGACCCG c.2460
V C P P N R P G L V E A L L S R V E D P p.820
. . . . . | 21 . g.24067
CCGGCGCCCACTGAGCCCGTGGCAGTAGAGCAGCTGGAGAAGGGCAGCCCTG | GTGGCCCT c.2520
P A P T E P V A V E Q L E K G S P G | G P p.840
. . . . . . g.24127
CCCCCCGGCTGGGTGCGGGACCCCCGGCTGCCCCCGTGCACGCTGCGCCAGGCTCTCACC c.2580
P P G W V R D P R L P P C T L R Q A L T p.860
. . . . . . g.24187
TTCTTCCTGGACATCACCTCCCCACCCAGCCCTCAGCTCTTGCGGCTGCTCAGCACCTTG c.2640
F F L D I T S P P S P Q L L R L L S T L p.880
. . . . | 22 . . g.24556
GCAGAAGAGCCCAGGGAACAGCAGGAGCTGGAGGCCCTCAGCCAG | GATCCCCGACGCTAC c.2700
A E E P R E Q Q E L E A L S Q | D P R R Y p.900
. . . . . . g.24616
GAGGAGTGGAAGTGGTTCCGCTGCCCCACGCTGCTGGAGGTGCTGGAGCAGTTCCCGTCG c.2760
E E W K W F R C P T L L E V L E Q F P S p.920
. . . . . . g.24676
GTGGCGCTGCCTGCCCCACTGCTCCTCACCCAGCTGCCTCTGCTCCAGCCCCGGTACTAC c.2820
V A L P A P L L L T Q L P L L Q P R Y Y p.940
. . . . . . g.24736
TCAGTCAGCTCGGCACCCAGCACCCACCCAGGAGAGATCCACCTCACTGTAGCTGTGCTG c.2880
S V S S A P S T H P G E I H L T V A V L p.960
. | 23 . . . . . g.24887
GCATACAGGACTCAGG | ATGGGCTGGGCCCCCTGCACTATGGAGTCTGCTCCACGTGGCTA c.2940
A Y R T Q D | G L G P L H Y G V C S T W L p.980
. . . . | 24 . . g.26311
AGCCAGCTCAAGCCCGGAGACCCTGTGCCCTGCTTCATCCGGGG | GGCTCCCTCCTTCCGG c.3000
S Q L K P G D P V P C F I R G | A P S F R p.1000
. . . . . . g.26371
CTGCCACCCGATCCCAGCTTGCCCTGCATCCTGGTGGGTCCAGGCACTGGCATTGCCCCC c.3060
L P P D P S L P C I L V G P G T G I A P p.1020
. . . . | 25 . . g.27189
TTCCGGGGATTCTGGCAGGAGCGGCTGCATGACATTGAGAGCAAAG | GGCTGCAGCCCACT c.3120
F R G F W Q E R L H D I E S K G | L Q P T p.1040
. . . . . . g.27249
CCCATGACTTTGGTGTTCGGCTGCCGATGCTCCCAACTTGACCATCTCTACCGCGACGAG c.3180
P M T L V F G C R C S Q L D H L Y R D E p.1060
. . . . . . g.27309
GTGCAGAACGCCCAGCAGCGCGGGGTGTTTGGCCGAGTCCTCACCGCCTTCTCCCGGGAA c.3240
V Q N A Q Q R G V F G R V L T A F S R E p.1080
. | 26 . . . . . g.27713
CCTGACAACCCCAAG | ACCTACGTGCAGGACATCCTGAGGACGGAGCTGGCTGCGGAGGTG c.3300
P D N P K | T Y V Q D I L R T E L A A E V p.1100
. . . . . . g.27773
CACCGCGTGCTGTGCCTCGAGCGGGGCCACATGTTTGTCTGCGGCGATGTTACCATGGCA c.3360
H R V L C L E R G H M F V C G D V T M A p.1120
. . . . . . g.27833
ACCAACGTCCTGCAGACCGTGCAGCGCATCCTGGCGACGGAGGGCGACATGGAGCTGGAC c.3420
T N V L Q T V Q R I L A T E G D M E L D p.1140
. . . | 27 . . . g.27982
GAGGCCGGCGACGTCATCGGCGTGCTGCGG | GATCAGCAACGCTACCACGAAGACATTTTC c.3480
E A G D V I G V L R | D Q Q R Y H E D I F p.1160
. . . . . . g.28042
GGGCTCACGCTGCGCACCCAGGAGGTGACAAGCCGCATACGCACCCAGAGCTTTTCCTTG c.3540
G L T L R T Q E V T S R I R T Q S F S L p.1180
. . . . . . g.28102
CAGGAGCGTCAGTTGCGGGGCGCAGTGCCCTGGGCGTTCGACCCTCCCGGCTCAGACACC c.3600
Q E R Q L R G A V P W A F D P P G S D T p.1200
. g.28114
AACAGCCCCTGA c.3612
N S P X p.1203
. . . . . . g.28174
gagccgcctggctttcccttccagttccgggagagcggctgcccgactcaggtccgcccg c.*60
. . . . . . g.28234
accaggatcagccccgctcctcccctcttgaggtggtgccttctcacatctgtccagagg c.*120
. . . . . . g.28294
ctgcaaggattcagcattattcctccaggaaggagcaaaacgcctcttttccctctctag c.*180
. . . . . . g.28354
gcctgttgcctcgggcctgggtccgccttaatctggaaggcccctcccagcagcggtacc c.*240
. . . . . . g.28414
ccagggcctactgccacccgcttcctgtttcttagtcgaatgttagattcctcttgcctc c.*300
. . . . . . g.28474
tctcaggagtatcttacctgtaaagtctaatctctaaatcaagtatttattattgaagat c.*360
. . . . . . g.28534
ttaccataagggactgtgccagatgttaggagaactactaaagtgcctaccccagctcat c.*420
. g.28544
gtggattaca c.*430
(downstream sequence)
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