(used for variant description)
(last modified December 19, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_016256.3 in the NAGPA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028152.1, covering NAGPA transcript NM_016256.3.
(upstream sequence)
. . g.5027
ccacatgacccgaggccccggtccaat c.-1
. . . . . . g.5087
ATGGCGACCTCCACGGGTCGCTGGCTTCTCCTCCGGCTTGCACTATTCGGCTTCCTCTGG c.60
M A T S T G R W L L L R L A L F G F L W p.20
. . | 02 . . . . g.5247
GAAGCGTCCGGCGGCCTCGACTCGGG | GGCCTCCCGCGACGACGACTTGCTACTGCCCTAT c.120
E A S G G L D S G | A S R D D D L L L P Y p.40
. . . . . . g.5307
CCACGCGCGCGCGCGCGCCTCCCCCGGGACTGCACACGGGTGCGCGCCGGCAACCGCGAG c.180
P R A R A R L P R D C T R V R A G N R E p.60
. . . . . . g.5367
CACGAGAGTTGGCCTCCGCCTCCCGCGACTCCCGGCGCCGGCGGTCTGGCCGTGCGCACC c.240
H E S W P P P P A T P G A G G L A V R T p.80
. . . . . . g.5427
TTCGTGTCGCACTTCAGGGACCGCGCGGTGGCCGGCCACCTGACGCGGGCCGTTGAGCCC c.300
F V S H F R D R A V A G H L T R A V E P p.100
. . . . . . g.5487
CTGCGCACCTTCTCGGTGCTGGAGCCCGGTGGACCCGGCGGCTGCGCGGCGAGACGACGC c.360
L R T F S V L E P G G P G G C A A R R R p.120
. . . . . . g.5547
GCCACCGTGGAGGAGACGGCGCGGGCGGCCGACTGCCGTGTCGCCCAGAACGGCGGCTTC c.420
A T V E E T A R A A D C R V A Q N G G F p.140
. . . . . . g.5607
TTCCGCATGAACTCGGGCGAGTGCCTGGGGAACGTGGTGAGCGACGAGCGGCGGGTGAGC c.480
F R M N S G E C L G N V V S D E R R V S p.160
. . . . . . g.5667
AGCTCCGGGGGGCTGCAGAACGCGCAGTTCGGGATCCGCCGCGACGGGACCCTGGTCACC c.540
S S G G L Q N A Q F G I R R D G T L V T p.180
| 03 . . . . . . g.7115
GG | GTACCTGTCTGAGGAGGAGGTGCTGGACACTGAGAACCCATTTGTGCAGCTGCTGAGT c.600
G | Y L S E E E V L D T E N P F V Q L L S p.200
. . . . . . g.7175
GGGGTCGTGTGGCTGATTCGTAATGGAAGCATCTACATCAACGAGAGCCAAGCCACAGAG c.660
G V V W L I R N G S I Y I N E S Q A T E p.220
. . | 04 . . . . g.8486
TGTGACGAGACACAGGAGACAG | GTTCCTTTAGCAAATTTGTGAATGTGATATCAGCCAGG c.720
C D E T Q E T G | S F S K F V N V I S A R p.240
. . . . . . g.8546
ACGGCCATTGGCCACGACCGGAAAGGGCAGCTGGTGCTCTTTCATGCAGACGGCCAAACG c.780
T A I G H D R K G Q L V L F H A D G Q T p.260
. | 05 . . . . . g.9982
GAGCAGCGTGG | CATCAACCTGTGGGAAATGGCGGAGTTCCTGCTGAAACAGGACGTGGTC c.840
E Q R G | I N L W E M A E F L L K Q D V V p.280
. . . . . . g.10042
AACGCCATCAACCTGGATGGGGGTGGCTCTGCCACCTTTGTGCTCAACGGGACCTTGGCC c.900
N A I N L D G G G S A T F V L N G T L A p.300
. . | 06 . . . . g.10796
AGTTACCCGTCAGATCACTG | CCAGGACAACATGTGGCGCTGTCCCCGCCAAGTGTCCACC c.960
S Y P S D H C | Q D N M W R C P R Q V S T p.320
. . . . . . g.10856
GTGGTGTGTGTGCACGAACCCCGCTGCCAGCCGCCTGACTGCCACGGCCACGGGACCTGC c.1020
V V C V H E P R C Q P P D C H G H G T C p.340
. . . . . . g.10916
GTGGACGGGCACTGCCAATGCACCGGGCACTTCTGGCGGGGTCCCGGCTGTGATGAGCTG c.1080
V D G H C Q C T G H F W R G P G C D E L p.360
. . . . | 07 . . g.11062
GACTGTGGCCCCTCTAACTGCAGCCAGCACGGACTGTGCACGGAGA | CCGGCTGCCGCTGT c.1140
D C G P S N C S Q H G L C T E T | G C R C p.380
. . . | 08 . . . g.11588
GATGCCGGATGGACCGGGTCCAACTGCAGTGAAG | AGTGTCCCCTTGGCTGGCATGGGCCG c.1200
D A G W T G S N C S E E | C P L G W H G P p.400
. . . . . . g.11648
GGCTGCCAGAGGCCTTGTAAGTGTGAGCACCATTGTCCCTGTGACCCCAAGACTGGCAAC c.1260
G C Q R P C K C E H H C P C D P K T G N p.420
. | 09 . . . . . g.11787
TGCAGCGTCTCCAGAG | TAAAGCAGTGTCTCCAGCCACCTGAAGCCACCCTGAGGGCGGGA c.1320
C S V S R V | K Q C L Q P P E A T L R A G p.440
. . | 10 . . . . g.13296
GAACTCTCCTTTTTCACCAG | GACCGCCTGGCTAGCCCTCACCCTGGCGCTGGCCTTCCTC c.1380
E L S F F T R | T A W L A L T L A L A F L p.460
. . . . . . g.13356
CTGCTGATCAGCACTGCAGCAAACCTGTCCTTGCTCCTGTCCAGAGCAGAGAGGAACCGG c.1440
L L I S T A A N L S L L L S R A E R N R p.480
. . . . . . g.13416
CGCCTGCATGGGGACTATGCATACCACCCGCTGCAGGAGATGAACGGGGAGCCTCTGGCC c.1500
R L H G D Y A Y H P L Q E M N G E P L A p.500
. . . . g.13464
GCAGAGAAGGAGCAGCCAGGGGGCGCCCACAACCCCTTCAAGGACTGA c.1548
A E K E Q P G G A H N P F K D X p.515
. . . . . . g.13524
agcctcaagctgcccggggtggcacgtcgcgaaagcttgtttccccacggtctggcttct c.*60
. . . . . . g.13584
gcaggggaaatttcaaggccactggcgtggaccatctgggtgtcctcagcccctgtgggg c.*120
. . . . . . g.13644
cagccaagttcctgatagcacttgtgcctcagcccctcacctggccacctgccagggcac c.*180
. . . . . . g.13704
ctgcaaccctagcaataccatgctcgctggagaggctcagctgcctgcttctggcctgcc c.*240
. . . . . . g.13764
tgtgtctgctgccgagaagcccgtgcccccgggagggctgccgcactgccaaagagtctc c.*300
. . . . . . g.13824
cctcctcctggggaaggggctgccaacgaaccagactcagtgaccacgtcatgacagaac c.*360
. . . . . . g.13884
agcacatcctggccagcacccctggctggagtgggttaaagggacgagtctgccttcctg c.*420
. . . . . . g.13944
gctgtgacacgggaccccttttctacagacctcatcactggatttgccaactagaattcg c.*480
. . . . . . g.14004
atttcctgtcataggaagctccttggaagaagggatggggggatgagatcatgtttacag c.*540
. . . . . . g.14064
acctgttttgtcatcctgctgccaagaagttttttaatcacttgaataaattgatataat c.*600
. . . g.14098
aaaaggagccaccaggtggtgtgtggattctgaa c.*634
(downstream sequence)
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