(used for variant description)
(last modified February 5, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_181882.2 in the PRX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007979.1, covering PRX transcript NM_181882.2.
(upstream sequence)
. . | 02 g.9983
gctctcgaggtgtctggaggctcagcg | ag c.-241
. . . . . | 03 . g.10126
cgccggacccaggaggcccaaggagctggaggtgaccctcag | gcagcaagaaccccacgg c.-181
. . . . . . g.10186
aagggcgtgagccctgcagacagctgtgcggcacctcgggctgggctcctgttaggagga c.-121
. . . | 04 . . . g.10372
agtgcctgcacccaggcagcg | gctcagaggcagctgctccatgcagaactgaagctggtt c.-61
. . . . . . g.10432
ctgcagcagaaaggggagaggacacaggagcctggggtgcaggtgcctcccagcaacgcc c.-1
. . | 05. . . . g.14535
ATGGAGGCCAGGAGCCGGAGTGCCGAG | GAGCTGAGGCGGGCGGAGTTGGTGGAAATTATC c.60
M E A R S R S A E | E L R R A E L V E I I p.20
. . . . . . g.14595
GTGGAGACGGAGGCGCAGACCGGGGTCAGCGGCATCAACGTAGCGGGCGGCGGCAAAGAG c.120
V E T E A Q T G V S G I N V A G G G K E p.40
. . . . . . g.14655
GGAATCTTCGTTCGGGAGCTGCGCGAGGACTCACCCGCCGCCAGGAGCCTCAGCCTGCAG c.180
G I F V R E L R E D S P A A R S L S L Q p.60
| 06 . . . . . . g.19604
GAAG | GGGACCAGCTGCTGAGTGCCCGAGTGTTCTTCGAGAACTTCAAGTACGAGGACGCA c.240
E G | D Q L L S A R V F F E N F K Y E D A p.80
. . . . . . g.19664
CTACGCCTGCTGCAATGCGCCGAGCCTTACAAAGTCTCCTTCTGCCTGAAGCGCACTGTG c.300
L R L L Q C A E P Y K V S F C L K R T V p.100
. . . . . . g.19724
CCCACCGGGGACCTGGCTCTGCGGCCCGGGACCGTGTCTGGCTACGAGATCAAGGGCCCG c.360
P T G D L A L R P G T V S G Y E I K G P p.120
. . | 07 . . . . g.20433
CGGGCCAAGGTGGCCAAGCTG | AACATCCAGAGTCTGTCCCCTGTGAAGAAGAAGAAGATG c.420
R A K V A K L | N I Q S L S P V K K K K M p.140
. . . . . . g.20493
GTGCCTGGGGCTCTGGGGGTCCCCGCTGACCTGGCCCCTGTTGACGTCGAGTTCTCCTTT c.480
V P G A L G V P A D L A P V D V E F S F p.160
. . . . . . g.20553
CCCAAGTTCTCCCGCCTGCGTCGGGGCCTCAAAGCCGAGGCTGTCAAGGGTCCTGTCCCG c.540
P K F S R L R R G L K A E A V K G P V P p.180
. . . . . . g.20613
GCTGCCCCTGCCCGCCGGCGCCTCCAGCTGCCTCGGCTGCGTGTACGAGAAGTGGCCGAA c.600
A A P A R R R L Q L P R L R V R E V A E p.200
. . . . . . g.20673
GAGGCTCAGGCAGCCCGGCTGGCCGCCGCCGCTCCTCCCCCCAGGAAAGCCAAGGTGGAG c.660
E A Q A A R L A A A A P P P R K A K V E p.220
. . . . . . g.20733
GCTGAGGTGGCTGCAGGAGCTCGTTTCACAGCCCCTCAGGTGGAGCTGGTTGGGCCGCGG c.720
A E V A A G A R F T A P Q V E L V G P R p.240
. . . . . . g.20793
CTGCCAGGGGCGGAGGTGGGTGTCCCCCAGGTCTCAGCCCCCAAGGCTGCCCCCTCAGCA c.780
L P G A E V G V P Q V S A P K A A P S A p.260
. . . . . . g.20853
GAGGCAGCTGGTGGCTTTGCCCTCCACCTGCCAACCCTTGGGCTCGGAGCCCCGGCTCCG c.840
E A A G G F A L H L P T L G L G A P A P p.280
. . . . . . g.20913
CCTGCTGTGGAGGCCCCAGCCGTGGGAATCCAGGTCCCCCAGGTGGAGCTGCCTGCCTTG c.900
P A V E A P A V G I Q V P Q V E L P A L p.300
. . . . . . g.20973
CCCTCACTGCCCACTCTGCCCACACTTCCCTGCCTAGAGACCCGGGAAGGGGCTGTGTCG c.960
P S L P T L P T L P C L E T R E G A V S p.320
. . . . . . g.21033
GTAGTGGTGCCCACCCTGGATGTGGCAGCACCGACTGTGGGGGTGGACCTGGCCTTGCCG c.1020
V V V P T L D V A A P T V G V D L A L P p.340
. . . . . . g.21093
GGTGCAGAGGTGGAGGCCCGGGGAGAGGCACCTGAGGTGGCCCTGAAGATGCCCCGCCTT c.1080
G A E V E A R G E A P E V A L K M P R L p.360
. . . . . . g.21153
AGTTTTCCCCGATTTGGGGCTCGAGCAAAGGAAGTTGCTGAGGCCAAGGTAGCCAAGGTC c.1140
S F P R F G A R A K E V A E A K V A K V p.380
. . . . . . g.21213
AGCCCTGAGGCCAGGGTGAAAGGTCCCAGACTTCGAATGCCCACCTTTGGGCTTTCCCTC c.1200
S P E A R V K G P R L R M P T F G L S L p.400
. . . . . . g.21273
TTGGAGCCCCGGCCCGCTGCTCCTGAAGTTGTAGAGAGCAAGCTGAAGCTGCCCACCATC c.1260
L E P R P A A P E V V E S K L K L P T I p.420
. . . . . . g.21333
AAGATGCCCTCCCTTGGCATCGGAGTGTCAGGGCCCGAGGTCAAGGTGCCCAAGGGACCT c.1320
K M P S L G I G V S G P E V K V P K G P p.440
. . . . . . g.21393
GAAGTGAAGCTCCCCAAGGCTCCTGAGGTCAAGCTTCCAAAAGTGCCCGAGGCAGCCCTT c.1380
E V K L P K A P E V K L P K V P E A A L p.460
. . . . . . g.21453
CCAGAGGTTCGACTCCCAGAGGTGGAGCTCCCCAAGGTGTCAGAGATGAAACTCCCAAAG c.1440
P E V R L P E V E L P K V S E M K L P K p.480
. . . . . . g.21513
GTGCCAGAGATGGCTGTGCCGGAGGTGCGGCTTCCAGAGGTAGAGCTGCCCAAAGTGTCA c.1500
V P E M A V P E V R L P E V E L P K V S p.500
. . . . . . g.21573
GAGATGAAACTCCCAAAGGTGCCAGAGATGGCTGTGCCGGAGGTGCGGCTTCCAGAGGTA c.1560
E M K L P K V P E M A V P E V R L P E V p.520
. . . . . . g.21633
CAGCTGCTGAAAGTGTCGGAGATGAAACTCCCAAAGGTGCCAGAGATGGCTGTGCCGGAG c.1620
Q L L K V S E M K L P K V P E M A V P E p.540
. . . . . . g.21693
GTGCGGCTTCCAGAGGTACAGCTGCCGAAAGTGTCAGAGATGAAACTCCCAGAGGTGTCA c.1680
V R L P E V Q L P K V S E M K L P E V S p.560
. . . . . . g.21753
GAGGTGGCTGTGCCAGAGGTGCGGCTTCCAGAGGTGCAGCTGCCGAAAGTGCCAGAGATG c.1740
E V A V P E V R L P E V Q L P K V P E M p.580
. . . . . . g.21813
AAAGTCCCTGAGATGAAGCTTCCAAAGGTGCCTGAGATGAAACTTCCTGAGATGAAACTC c.1800
K V P E M K L P K V P E M K L P E M K L p.600
. . . . . . g.21873
CCTGAAGTGCAACTCCCGAAGGTGCCCGAGATGGCCGTGCCCGATGTGCACCTCCCAGAA c.1860
P E V Q L P K V P E M A V P D V H L P E p.620
. . . . . . g.21933
GTGCAGCTTCCAAAAGTCCCAGAGATGAAGCTCCCTGAGATGAAACTCCCTGAGGTGAAA c.1920
V Q L P K V P E M K L P E M K L P E V K p.640
. . . . . . g.21993
CTCCCGAAGGTGCCCGAGATGGCTGTGCCCGATGTGCACCTCCCGGAAGTGCAGCTCCCG c.1980
L P K V P E M A V P D V H L P E V Q L P p.660
. . . . . . g.22053
AAAGTCCCAGAGATGAAACTCCCTAAAATGCCTGAGATGGCTGTGCCAGAGGTTCGACTC c.2040
K V P E M K L P K M P E M A V P E V R L p.680
. . . . . . g.22113
CCCGAGGTGCAGCTGCCAAAAGTCTCAGAGATGAAACTCCCCAAGGTGCCTGAAATGGCC c.2100
P E V Q L P K V S E M K L P K V P E M A p.700
. . . . . . g.22173
GTGCCCGATGTGCACCTCCCAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCT c.2160
V P D V H L P E V Q L P K V C E M K V P p.720
. . . . . . g.22233
GACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTG c.2220
D M K L P E I K L P K V P E M A V P D V p.740
. . . . . . g.22293
CACCTCCCCGAGGTGCAGCTGCCGAAAGTGTCAGAGATTCGGCTGCCGGAAATGCAAGTG c.2280
H L P E V Q L P K V S E I R L P E M Q V p.760
. . . . . . g.22353
CCGAAGGTTCCCGACGTGCATCTTCCGAAGGCACCAGAGGTGAAGCTGCCCAGGGCTCCG c.2340
P K V P D V H L P K A P E V K L P R A P p.780
. . . . . . g.22413
GAGGTGCAGCTAAAGGCCACCAAGGCAGAACAGGCAGAAGGGATGGAATTTGGCTTCAAG c.2400
E V Q L K A T K A E Q A E G M E F G F K p.800
. . . . . . g.22473
ATGCCCAAGATGACCATGCCCAAGCTAGGGAGGGCAGAGTCCCCATCACGTGGCAAGCCA c.2460
M P K M T M P K L G R A E S P S R G K P p.820
. . . . . . g.22533
GGCGAGGCGGGTGCTGAGGTCTCAGGGAAGCTGGTAACACTTCCCTGTCTGCAGCCAGAG c.2520
G E A G A E V S G K L V T L P C L Q P E p.840
. . . . . . g.22593
GTGGATGGTGAGGCTCATGTGGGTGTCCCCTCTCTCACTCTGCCTTCAGTGGAGCTAGAC c.2580
V D G E A H V G V P S L T L P S V E L D p.860
. . . . . . g.22653
CTGCCAGGAGCACTTGGCCTGCAGGGGCAGGTCCCAGCCGCTAAAATGGGCAAGGGAGAG c.2640
L P G A L G L Q G Q V P A A K M G K G E p.880
. . . . . . g.22713
CGGGTGGAGGGCCCTGAGGTGGCAGCAGGGGTCAGGGAAGTGGGCTTCCGAGTGCCCTCT c.2700
R V E G P E V A A G V R E V G F R V P S p.900
. . . . . . g.22773
GTTGAAATTGTCACCCCACAGCTGCCCGCCGTGGAAATTGAGGAAGGGCGGCTGGAGATG c.2760
V E I V T P Q L P A V E I E E G R L E M p.920
. . . . . . g.22833
ATAGAGACAAAAGTCAAGCCCTCTTCCAAGTTCTCCTTACCTAAGTTTGGACTCTCGGGG c.2820
I E T K V K P S S K F S L P K F G L S G p.940
. . . . . . g.22893
CCAAAGGTGGCTAAGGCAGAGGCTGAGGGGGCTGGGCGAGCTACCAAGCTGAAGGTATCC c.2880
P K V A K A E A E G A G R A T K L K V S p.960
. . . . . . g.22953
AAATTTGCCATCTCACTCCCCAAGGCTCGGGTGGGGGCTGAGGCTGAGGCCAAAGGGGCT c.2940
K F A I S L P K A R V G A E A E A K G A p.980
. . . . . . g.23013
GGGGAGGCAGGCCTGCTGCCTGCCCTCGATCTGTCCATCCCACAGCTCAGCCTGGATGCC c.3000
G E A G L L P A L D L S I P Q L S L D A p.1000
. . . . . . g.23073
CACCTGCCCTCAGGCAAGGTAGAGGTGGCAGGGGCCGACCTCAAGTTCAAGGGGCCCAGG c.3060
H L P S G K V E V A G A D L K F K G P R p.1020
. . . . . . g.23133
TTTGCTCTCCCCAAGTTTGGGGTCAGAGGCCGGGACACTGAGGCAGCAGAACTAGTGCCA c.3120
F A L P K F G V R G R D T E A A E L V P p.1040
. . . . . . g.23193
GGGGTGGCTGAGTTGGAGGGCAAGGGCTGGGGCTGGGATGGGAGGGTGAAGATGCCCAAG c.3180
G V A E L E G K G W G W D G R V K M P K p.1060
. . . . . . g.23253
CTGAAGATGCCTTCCTTTGGGCTGGCTCGAGGGAAGGAAGCAGAAGTTCAAGGTGATCGT c.3240
L K M P S F G L A R G K E A E V Q G D R p.1080
. . . . . . g.23313
GCCAGCCCGGGGGAAAAGGCTGAGTCCACCGCTGTGCAGCTTAAGATCCCCGAGGTGGAG c.3300
A S P G E K A E S T A V Q L K I P E V E p.1100
. . . . . . g.23373
CTGGTCACGCTGGGCGCCCAGGAGGAAGGGAGGGCAGAGGGGGCTGTGGCCGTCAGTGGA c.3360
L V T L G A Q E E G R A E G A V A V S G p.1120
. . . . . . g.23433
ATGCAGCTGTCAGGCCTGAAGGTGTCCACAGCCGGGCAGGTGGTCACTGAGGGCCATGAC c.3420
M Q L S G L K V S T A G Q V V T E G H D p.1140
. . . . . . g.23493
GCGGGGCTGAGGATGCCTCCGCTGGGCATCTCCCTGCCACAGGTGGAGCTGACCGGCTTT c.3480
A G L R M P P L G I S L P Q V E L T G F p.1160
. . . . . . g.23553
GGGGAGGCAGGTACCCCAGGGCAGCAGGCTCAGAGTACAGTCCCTTCAGCAGAGGGCACA c.3540
G E A G T P G Q Q A Q S T V P S A E G T p.1180
. . . . . . g.23613
GCAGGCTACAGGGTTCAGGTGCCCCAGGTGACCCTGTCTCTGCCTGGAGCCCAGGTTGCA c.3600
A G Y R V Q V P Q V T L S L P G A Q V A p.1200
. . . . . . g.23673
GGTGGTGAGCTGCTGGTGGGTGAGGGTGTCTTTAAGATGCCCACCGTGACAGTGCCCCAG c.3660
G G E L L V G E G V F K M P T V T V P Q p.1220
. . . . . . g.23733
CTTGAGCTGGACGTGGGGCTAAGCCGAGAGGCACAGGCGGGCGAGGCGGCCACAGGCGAG c.3720
L E L D V G L S R E A Q A G E A A T G E p.1240
. . . . . . g.23793
GGTGGGCTGAGGCTGAAGTTGCCCACACTGGGGGCCAGAGCTAGGGTGGGGGGCGAGGGT c.3780
G G L R L K L P T L G A R A R V G G E G p.1260
. . . . . . g.23853
GCTGAGGAGCAGCCCCCAGGGGCCGAGCGTACCTTCTGCCTCTCACTGCCCGACGTGGAG c.3840
A E E Q P P G A E R T F C L S L P D V E p.1280
. . . . . . g.23913
CTCTCGCCATCCGGGGGCAACCATGCCGAGTACCAGGTGGCAGAGGGGGAGGGAGAGGCC c.3900
L S P S G G N H A E Y Q V A E G E G E A p.1300
. . . . . . g.23973
GGACACAAGCTCAAGGTACGGCTGCCCCGGTTTGGCCTGGTGCGGGCCAAGGAGGGGGCC c.3960
G H K L K V R L P R F G L V R A K E G A p.1320
. . . . . . g.24033
GAGGAGGGTGAGAAGGCCAAGAGCCCCAAACTCAGGCTGCCCCGAGTGGGCTTCAGCCAA c.4020
E E G E K A K S P K L R L P R V G F S Q p.1340
. . . . . . g.24093
AGTGAGATGGTCACTGGGGAAGGGTCCCCCAGCCCCGAGGAGGAGGAGGAGGAGGAGGAA c.4080
S E M V T G E G S P S P E E E E E E E E p.1360
. . . . . . g.24153
GAGGGCAGTGGGGAAGGGGCCTCGGGTCGCCGGGGCCGGGTCCGGGTCCGCTTGCCACGT c.4140
E G S G E G A S G R R G R V R V R L P R p.1380
. . . . . . g.24213
GTAGGCCTGGCGGCCCCTTCTAAAGCCTCTCGGGGGCAGGAGGGCGATGCAGCCCCCAAG c.4200
V G L A A P S K A S R G Q E G D A A P K p.1400
. . . . . . g.24273
TCCCCCGTCAGAGAGAAGTCACCCAAGTTCCGCTTCCCCAGGGTGTCCCTAAGCCCCAAG c.4260
S P V R E K S P K F R F P R V S L S P K p.1420
. . . . . . g.24333
GCCCGGAGTGGGAGTGGGGACCAGGAAGAGGGTGGATTGCGGGTGCGGCTGCCCAGCGTG c.4320
A R S G S G D Q E E G G L R V R L P S V p.1440
. . . . . . g.24393
GGGTTTTCAGAGACAGGGGCTCCAGGCCCGGCCAGGATGGAGGGGGCTCAGGCTGCGGCT c.4380
G F S E T G A P G P A R M E G A Q A A A p.1460
g.24399
GTCTGA c.4386
V X p.1461
. . . . . . g.24459
agcccctagtcagatggggatcccttcttgccttcctttctctaccccctcgctgttgtg c.*60
. . . . . . g.24519
tgtgtgataactagcactaaccctaagagggccgggaggtgggtgactgaccagggctgg c.*120
. . . . . . g.24579
cagggaggcctgctcctgtctctctggcaggagtgcctgtaccccaccaagccatgtgaa c.*180
. . g.24601
taaaataatctggaagtagcca c.*202
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21b
©2004-2019 Leiden University Medical Center