(used for variant description)
(last modified January 28, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_153006.2 in the NAGS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008106.1, covering NAGS transcript NM_153006.2.
(upstream sequence)
. . . . . . g.60
ATGGCGACGGCGCTGATGGCTGTGGTTCTGCGGGCAGCTGCTGTAGCCCCGAGGCTGAGA c.60
M A T A L M A V V L R A A A V A P R L R p.20
. . . . . . g.120
GGCCGGGGAGGCACTGGGGGCGCCCGAAGGCTGAGCTGTGGCGCGCGGCGGCGGGCGGCG c.120
G R G G T G G A R R L S C G A R R R A A p.40
. . . . . . g.180
AGGGGCACCAGCCCGGGGCGCCGGCTCAGCACCGCCTGGTCGCAGCCCCAGCCCCCGCCC c.180
R G T S P G R R L S T A W S Q P Q P P P p.60
. . . . . . g.240
GAGGAGTACGCGGGCGCGGACGACGTCTCCCAGTCGCCCGTCGCCGAGGAGCCGTCGTGG c.240
E E Y A G A D D V S Q S P V A E E P S W p.80
. . . . . . g.300
GTGCCGAGTCCCAGGCCCCCGGTGCCCCACGAGTCCCCAGAGCCTCCTTCGGGCCGCTCG c.300
V P S P R P P V P H E S P E P P S G R S p.100
. . . . . . g.360
CTGGTGCAGCGGGACATCCAGGCCTTCCTGAACCAGTGCGGGGCCAGCCCTGGGGAGGCG c.360
L V Q R D I Q A F L N Q C G A S P G E A p.120
. . . . . . g.420
CGCCACTGGCTCACGCAGTTCCAGACCTGCCATCACTCCGCGGACAAGCCCTTCGCCGTC c.420
R H W L T Q F Q T C H H S A D K P F A V p.140
| 02 . . . . . . g.1027
ATCGAG | GTGGACGAGGAGGTGCTCAAGTGCCAGCAGGGCGTATCCAGTCTGGCCTTTGCC c.480
I E | V D E E V L K C Q Q G V S S L A F A p.160
. . . . . . g.1087
CTGGCCTTCTTGCAGCGCATGGACATGAAGCCGCTGGTGGTCCTGGGGCTGCCGGCCCCT c.540
L A F L Q R M D M K P L V V L G L P A P p.180
. . . . . . g.1147
ACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGC c.600
T A P S G C L S F W E A K A Q L A K S C p.200
. . . . . . g.1207
AAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGC c.660
K V L V D A L R H N A A A A V P F F G G p.220
. . . . | 03 . . g.1379
GGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAG | CTACGGCGGCATCGTCTCG c.720
G S V L R A A E P A P H A S | Y G G I V S p.240
. . . . . . g.1439
GTGGAGACAGACCTGCTGCAGTGGTGCCTGGAGTCGGGCAGCATCCCCATCCTGTGCCCC c.780
V E T D L L Q W C L E S G S I P I L C P p.260
. . . . . . g.1499
ATCGGGGAGACGGCCGCGCGCCGCTCCGTGCTTCTCGACTCCCTGGAGGTGACCGCGTCG c.840
I G E T A A R R S V L L D S L E V T A S p.280
. . . . . . g.1559
CTGGCCAAGGCGCTGCGGCCCACCAAAATCATCTTCCTCAATAACACAGGCGGCCTGCGC c.900
L A K A L R P T K I I F L N N T G G L R p.300
. | 04 . . . . . g.1910
GACAGCAGTCATAAG | GTCCTGAGTAACGTGAACCTGCCCGCCGACCTGGACCTGGTGTGC c.960
D S S H K | V L S N V N L P A D L D L V C p.320
. . . . . . g.1970
AACGCCGAGTGGGTGAGCACAAAAGAACGGCAGCAGATGCGGCTCATCGTGGACGTGCTC c.1020
N A E W V S T K E R Q Q M R L I V D V L p.340
. . . . . . g.2030
AGCCGCCTGCCCCACCACTCCTCGGCCGTCATCACCGCCGCTAGCACGCTGCTCACTGAG c.1080
S R L P H H S S A V I T A A S T L L T E p.360
. | 05 . . . . . g.2703
CTCTTTAGCAACAAGG | GGTCCGGGACCCTGTTCAAGAACGCCGAGCGAATGCTACGGGTG c.1140
L F S N K G | S G T L F K N A E R M L R V p.380
. . . . . . g.2763
CGCAGCCTGGACAAGCTGGACCAGGGCCGTCTAGTGGACCTGGTCAACGCCAGCTTCGGC c.1200
R S L D K L D Q G R L V D L V N A S F G p.400
. . . . . . g.2823
AAGAAGCTCAGGGACGACTACCTGGCCTCGCTGCGCCCGCGGCTGCACTCCATCTACGTC c.1260
K K L R D D Y L A S L R P R L H S I Y V p.420
| 06 . . . . . g.2979
TCCGAGGG | GTACAACGCCGCCGCCATTCTGACCATGGAGCCCGTCCTGGGGGGCACCCCG c.1320
S E G | Y N A A A I L T M E P V L G G T P p.440
. . . . . . g.3039
TACCTGGACAAATTTGTGGTGAGCTCCAGCCGCCAGGGCCAAGGCTCCGGCCAGATGCTG c.1380
Y L D K F V V S S S R Q G Q G S G Q M L p.460
. . . . . . g.3099
TGGGAGTGCCTGCGGCGGGACCTTCAGACACTTTTCTGGCGCTCCCGGGTCACCAACCCC c.1440
W E C L R R D L Q T L F W R S R V T N P p.480
. | 07 . . . . . g.3833
ATCAATCCCTG | GTACTTCAAACACAGTGATGGCAGCTTCTCCAACAAGCAGTGGATCTTC c.1500
I N P W | Y F K H S D G S F S N K Q W I F p.500
. . . . . . g.3893
TTCTGGTTTGGCCTGGCTGATATCCGGGACTCCTATGAGTTGGTCAACCACGCCAAGGGA c.1560
F W F G L A D I R D S Y E L V N H A K G p.520
. . . . g.3938
CTGCCAGACTCCTTTCACAAGCCAGCTTCTGACCCAGGCAGCTGA c.1605
L P D S F H K P A S D P G S X p.534
. . . . . . g.3998
ccctcaccatggacactacaggccctggaatggccagggtggaccaaaagccatgccagc c.*60
. . . . . . g.4058
tgggcatgaccccaggcagccagccacaggctgaagggggcttgttggctgagtgatctg c.*120
. . . . . . g.4118
cagaggagaaagcagccccagctctgcccagaggaggcgctgaagtgggacaagcacagg c.*180
. . . . . . g.4178
aaagaaggggaccagtctaggaccccaactcgactcactctaaagctacaaccaaatggc c.*240
. . . . . . g.4238
cttcgattttcaacctggggattaggggaggggagggtgccttccagggctctactcagg c.*300
. . . . . . g.4298
actaaccctaagggtgagctagtttctgtgcctctgtgctatgttttgaggctcccttac c.*360
. . . . . . g.4358
ccaaaataatacccctgcctgcgtgatattctaccattcattttaattcctttgggtctt c.*420
. . . . g.4405
gcagtttttcaggaggccttgattaaaatgcaaatacttgtctgaga c.*467
(downstream sequence)
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