(used for variant description)
(last modified February 8, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_003995.3 in the NPR2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009249.1, covering NPR2 transcript NM_003995.3.
(upstream sequence)
. . . . . . g.60
ATGGCGCTGCCATCACTTCTGCTGTTGGTGGCAGCCCTGGCAGGTGGGGTGCGTCCTCCC c.60
M A L P S L L L L V A A L A G G V R P P p.20
. . . . . . g.120
GGGGCGCGGAACCTGACGCTGGCGGTGGTGCTGCCAGAACACAACCTGAGCTATGCCTGG c.120
G A R N L T L A V V L P E H N L S Y A W p.40
. . . . . . g.180
GCCTGGCCACGGGTGGGACCCGCTGTGGCACTAGCTGTGGAGGCTCTGGGCCGGGCACTG c.180
A W P R V G P A V A L A V E A L G R A L p.60
. . . . . . g.240
CCCGTGGACCTGCGGTTTGTCAGCTCCGAACTGGAAGGCGCCTGCTCTGAGTACCTGGCA c.240
P V D L R F V S S E L E G A C S E Y L A p.80
. . . . . . g.300
CCGCTGAGCGCTGTGGACCTCAAGCTGTACCATGACCCCGACCTGCTGTTAGGTCCCGGT c.300
P L S A V D L K L Y H D P D L L L G P G p.100
. . . . . . g.360
TGCGTGTACCCTGCTGCCTCTGTGGCCCGCTTTGCCTCCCACTGGCGCCTTCCCCTGCTG c.360
C V Y P A A S V A R F A S H W R L P L L p.120
. . . . . . g.420
ACTGCGGGTGCTGTGGCCTCTGGTTTTTCGGCTAAGAATGACCATTATCGTACCCTGGTT c.420
T A G A V A S G F S A K N D H Y R T L V p.140
. . . . . . g.480
CGCACTGGCCCCTCTGCTCCCAAGCTGGGTGAGTTTGTGGTGACACTACACGGGCACTTC c.480
R T G P S A P K L G E F V V T L H G H F p.160
. . . . . . g.540
AATTGGACTGCCCGTGCTGCCTTGCTGTACCTGGATGCTCGCACAGATGACCGGCCTCAC c.540
N W T A R A A L L Y L D A R T D D R P H p.180
. . . . . . g.600
TACTTCACCATCGAGGGCGTCTTTGAGGCCCTGCAGGGCAGCAACCTCAGTGTGCAGCAC c.600
Y F T I E G V F E A L Q G S N L S V Q H p.200
. . . . . . g.660
CAGGTGTATGCCCGAGAGCCAGGGGGCCCCGAGCAGGCCACCCACTTCATCCGGGCCAAC c.660
Q V Y A R E P G G P E Q A T H F I R A N p.220
| 02. . . . . . g.1542
GGGCGCA | TTGTGTATATCTGCGGCCCTCTGGAGATGCTGCATGAGATCCTGCTTCAGGCC c.720
G R I | V Y I C G P L E M L H E I L L Q A p.240
. . . . . . g.1602
CAGAGGGAGAATCTGACCAATGGGGATTATGTCTTCTTTTACCTGGATGTCTTTGGGGAG c.780
Q R E N L T N G D Y V F F Y L D V F G E p.260
. . . . . . g.1662
AGTCTCCGTGCAGGCCCCACACGTGCTACAGGCCGGCCCTGGCAGGACAATCGCACCCGG c.840
S L R A G P T R A T G R P W Q D N R T R p.280
. . . | 03 . . . g.7236
GAACAGGCCCAGGCCCTCAGAGAGGCCTTTCAG | ACTGTATTGGTGATCACGTACCGAGAA c.900
E Q A Q A L R E A F Q | T V L V I T Y R E p.300
. . . . . . g.7296
CCCCCAAATCCTGAGTATCAGGAATTCCAGAATCGTCTGCTGATAAGAGCCCGGGAAGAC c.960
P P N P E Y Q E F Q N R L L I R A R E D p.320
. . | 04. . . . g.7646
TTTGGTGTGGAGCTGGGCCCTTCCCTG | ATGAACCTCATCGCTGGCTGCTTCTATGATGGG c.1020
F G V E L G P S L | M N L I A G C F Y D G p.340
. . . . . . g.7706
ATCCTGCTATATGCTGAAGTCCTGAATGAGACAATACAGGAAGGAGGCACCCGGGAGGAT c.1080
I L L Y A E V L N E T I Q E G G T R E D p.360
. . . . | 05 . . g.7997
GGACTTCGAATTGTGGAAAAGATGCAGGGACGAAGATATCACG | GTGTAACTGGGCTGGTT c.1140
G L R I V E K M Q G R R Y H G | V T G L V p.380
. . . . . . g.8057
GTCATGGACAAGAACAATGACCGAGAGACTGACTTTGTCCTCTGGGCCATGGGAGACCTG c.1200
V M D K N N D R E T D F V L W A M G D L p.400
. | 06 . . . . g.8342
GATTCTGGGGACTTTCAG | CCTGCAGCCCACTACTCGGGAGCTGAGAAGCAGATTTGGTGG c.1260
D S G D F Q | P A A H Y S G A E K Q I W W p.420
. . . . . . g.8402
ACGGGACGGCCTATTCCCTGGGTGAAGGGGGCTCCTCCCTCGGACAATCCCCCCTGTGCC c.1320
T G R P I P W V K G A P P S D N P P C A p.440
. . . | 07 . . . g.8690
TTTGACTTGGACGACCCATCCTGTGATAAAA | CTCCACTTTCAACCCTGGCAATTGTGGCT c.1380
F D L D D P S C D K T | P L S T L A I V A p.460
. . . . . | 08 . g.9238
CTGGGCACAGGAATCACCTTCATCATGTTTGGTGTTTCCAGCTTCCTAATTTTCCG | AAAG c.1440
L G T G I T F I M F G V S S F L I F R | K p.480
. . . . . . g.9298
CTGATGCTGGAGAAGGAGCTGGCTAGCATGTTGTGGCGTATTCGCTGGGAAGAACTGCAG c.1500
L M L E K E L A S M L W R I R W E E L Q p.500
. . . . . | 09. g.9520
TTTGGCAACTCAGAGCGTTATCACAAAGGTGCAGGCAGTCGCCTCACACTGTCGCTG | CGG c.1560
F G N S E R Y H K G A G S R L T L S L | R p.520
. . . . . . g.9580
GGATCCAGTTACGGCTCGCTCATGACAGCCCATGGGAAATACCAGATCTTTGCCAACACC c.1620
G S S Y G S L M T A H G K Y Q I F A N T p.540
. | 10 . . . . . g.9845
GGTCACTTCAAG | GGAAATGTTGTCGCCATCAAACATGTGAATAAGAAGCGCATTGAGCTG c.1680
G H F K | G N V V A I K H V N K K R I E L p.560
. . . | 11 . . . g.10124
ACCCGGCAGGTTCTGTTTGAACTCAAACAT | ATGAGAGATGTTCAGTTCAACCATCTCACT c.1740
T R Q V L F E L K H | M R D V Q F N H L T p.580
. . . . . . g.10184
CGCTTCATTGGCGCCTGCATAGACCCTCCCAACATTTGCATTGTCACTGAATACTGTCCT c.1800
R F I G A C I D P P N I C I V T E Y C P p.600
. | 12 . . . . . g.10368
CGTGGGAGTTTACAG | GATATTCTAGAAAATGACAGCATCAACTTGGACTGGATGTTTCGT c.1860
R G S L Q | D I L E N D S I N L D W M F R p.620
. . | 13. . . . g.13135
TATTCACTCATTAATGACCTTGTTAAG | GGCATGGCCTTTCTCCACAACAGCATTATTTCA c.1920
Y S L I N D L V K | G M A F L H N S I I S p.640
. . . . . . g.13195
TCGCATGGGAGTCTCAAGTCCTCCAACTGTGTGGTGGATAGTCGTTTTGTGCTCAAAATC c.1980
S H G S L K S S N C V V D S R F V L K I p.660
. . . . . . g.13255
ACAGACTATGGCCTGGCCAGCTTCCGATCAACTGCTGAACCTGATGACAGCCATGCCCTC c.2040
T D Y G L A S F R S T A E P D D S H A L p.680
| 14. . . . . . g.13474
TATGCCA | AGAAGCTGTGGACTGCCCCAGAACTGCTCAGTGGGAACCCCTTGCCAACCACA c.2100
Y A K | K L W T A P E L L S G N P L P T T p.700
. . . . . . g.13534
GGCATGCAGAAGGCTGACGTCTATAGCTTTGGGATCATCCTGCAGGAGATAGCACTTCGC c.2160
G M Q K A D V Y S F G I I L Q E I A L R p.720
. . . . | 15 . . g.13673
AGTGGTCCTTTCTACTTGGAGGGCCTGGACCTCAGCCCCAAAG | AGATTGTCCAGAAGGTA c.2220
S G P F Y L E G L D L S P K E | I V Q K V p.740
. . . . . . g.13733
CGAAATGGTCAGCGGCCATATTTCCGGCCAAGCATTGACCGGACCCAACTGAATGAAGAG c.2280
R N G Q R P Y F R P S I D R T Q L N E E p.760
. . . . . . g.13793
CTAGTTTTGCTGATGGAGCGATGTTGGGCTCAGGACCCAGCTGAGCGGCCAGACTTTGGA c.2340
L V L L M E R C W A Q D P A E R P D F G p.780
. . . | 16 . . . g.14011
CAGATTAAGGGCTTCATTCGGCGCTTTAACAA | GGAGGGTGGCACCAGCATATTGGACAAC c.2400
Q I K G F I R R F N K | E G G T S I L D N p.800
. . . . . . g.14071
CTCCTGCTGCGCATGGAACAGTATGCCAATAACTTGGAGAAGCTGGTGGAGGAACGCACA c.2460
L L L R M E Q Y A N N L E K L V E E R T p.820
. . . . . | 17 g.14615
CAGGCCTATCTGGAGGAAAAACGCAAGGCTGAAGCTCTGCTCTACCAAATCCTACCCCA | T c.2520
Q A Y L E E K R K A E A L L Y Q I L P H | p.840
. . . . . . g.14675
TCAGTGGCAGAGCAGTTAAAACGGGGAGAGACTGTACAGGCTGAGGCCTTTGACAGTGTT c.2580
S V A E Q L K R G E T V Q A E A F D S V p.860
. . . . . . g.14735
ACCATCTACTTCAGTGACATTGTTGGCTTCACAGCATTGTCAGCAGAGAGCACCCCCATG c.2640
T I Y F S D I V G F T A L S A E S T P M p.880
| 18 . . . . . . g.14978
CAG | GTAGTGACACTTCTTAATGACCTGTATACCTGCTTTGATGCCATAATTGACAACTTT c.2700
Q | V V T L L N D L Y T C F D A I I D N F p.900
. | 19 . . . . . g.16148
GATGTCTACAAG | GTGGAGACGATTGGGGATGCTTACATGGTGGTATCTGGCCTCCCAGGC c.2760
D V Y K | V E T I G D A Y M V V S G L P G p.920
. . . . . . g.16208
CGAAATGGTCAACGCCATGCACCAGAAATTGCTCGTATGGCCCTAGCATTACTAGATGCA c.2820
R N G Q R H A P E I A R M A L A L L D A p.940
. . . . . . g.16268
GTTTCTTCCTTTCGCATCCGCCACCGACCCCATGACCAGCTGAGGCTACGCATAGGGGTC c.2880
V S S F R I R H R P H D Q L R L R I G V p.960
| 20. . . . . . g.16399
CATACTG | GGCCAGTCTGTGCTGGGGTTGTTGGCCTGAAGATGCCCCGTTATTGTCTTTTT c.2940
H T G | P V C A G V V G L K M P R Y C L F p.980
. . . . | 21 . . g.16761
GGAGACACAGTGAACACTGCTTCTCGAATGGAGTCTAATGGTCAAG | CGCTGAAGATCCAT c.3000
G D T V N T A S R M E S N G Q A | L K I H p.1000
. . . . . . g.16821
GTCTCCTCTACCACCAAGGATGCCCTAGATGAGCTAGGATGCTTCCAGCTAGAGCTTCGG c.3060
V S S T T K D A L D E L G C F Q L E L R p.1020
. | 22 . . . . g.17013
GGGGATGTGGAAATGAAG | GGAAAAGGAAAGATGCGAACATACTGGCTCTTAGGAGAGCGG c.3120
G D V E M K | G K G K M R T Y W L L G E R p.1040
. . g.17037
AAAGGACCTCCTGGACTCCTGTAA c.3144
K G P P G L L X p.1047
. . . . . . g.17097
acccccattctttccaagtcagatagtcttctgctgctggtacctgggtgggcaatggcc c.*60
. . . . . . g.17157
accatgtctgcacacaccagaaatggacattttcatatgcaatggaaaacagccacaaaa c.*120
. . . . . . g.17217
aaacctaccttatatggaagttgtagccctctgcagctcagccctgtacatatacctgtc c.*180
. . . . . . g.17277
cctctctggcttggtccccttcctccctactttctgtaaatatctgtatctaaaccagaa c.*240
. . . . g.17323
tattttggtcaaatataaaacaataataaaaaaagttctgatgtca c.*286
(downstream sequence)
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