(used for variant description)
(last modified November 4, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_012293.1 in the PXDN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering PXDN transcript NM_012293.1.
(upstream sequence)
g.5004
gggc c.-61
. . . . . . g.5064
gcagtcgggagccggccgtggtggctccgtgcgtccgagcgtccgtccgcgccgtcggcc c.-1
. . . . . . g.5124
ATGGCCAAGCGCTCCAGGGGCCCCGGGCGCCGCTGCCTGTTGGCGCTCGTGCTGTTCTGC c.60
M A K R S R G P G R R C L L A L V L F C p.20
. . . . . . g.5184
GCCTGGGGGACGCTGGCCGTGGTGGCCCAGAAGCCGGGCGCAGGGTGTCCGAGCCGCTGC c.120
A W G T L A V V A Q K P G A G C P S R C p.40
. . . . . . g.5244
CTGTGCTTCCGCACCACCGTGCGCTGCATGCATCTGCTGCTGGAGGCCGTGCCCGCCGTG c.180
L C F R T T V R C M H L L L E A V P A V p.60
. . | 02 . . . . g.56425
GCGCCGCAGACCTCCATCCT | AGATCTTCGCTTTAACAGAATCAGAGAGATCCAACCTGGG c.240
A P Q T S I L | D L R F N R I R E I Q P G p.80
. . . | 03 . . . g.57548
GCATTCAGGCGGCTGAGGAACTTGAACACATT | GCTTCTCAATAATAATCAGATCAAGAGG c.300
A F R R L R N L N T L | L L N N N Q I K R p.100
. . . . | 04 . . g.61832
ATACCTAGTGGAGCATTTGAAGACTTGGAAAATTTAAAATATCT | CTATCTGTACAAGAAT c.360
I P S G A F E D L E N L K Y L | Y L Y K N p.120
. . . . . | 05 . g.65372
GAGATCCAGTCAATTGACAGGCAAGCATTTAAGGGACTTGCCTCTCTAGAGCAACT | ATAC c.420
E I Q S I D R Q A F K G L A S L E Q L | Y p.140
. . . . . . g.65432
CTGCACTTTAATCAGATAGAAACTTTGGACCCAGATTCGTTCCAGCATCTCCCGAAGCTC c.480
L H F N Q I E T L D P D S F Q H L P K L p.160
| 06 . . . . . g.65844
GAGAGGCT | ATTTTTGCATAACAACCGGATTACACATTTAGTTCCAGGGACATTTAATCAC c.540
E R L | F L H N N R I T H L V P G T F N H p.180
. . | 07 . . . . g.69197
TTGGAATCTATGAAGAGATT | GCGACTGGACTCAAACACACTTCACTGCGACTGTGAAATC c.600
L E S M K R L | R L D S N T L H C D C E I p.200
. . . . . . g.69257
CTGTGGTTGGCGGATTTGCTGAAAACCTACGCGGAGTCGGGGAACGCGCAGGCAGCGGCC c.660
L W L A D L L K T Y A E S G N A Q A A A p.220
. . . . . . g.69317
ATCTGTGAATATCCCAGACGCATCCAGGGACGCTCAGTGGCAACCATCACCCCGGAAGAG c.720
I C E Y P R R I Q G R S V A T I T P E E p.240
. | 08 . . . . . g.72525
CTGAACTGTG | AAAGGCCCCGGATCACCTCCGAGCCCCAGGACGCAGATGTGACCTCGGGG c.780
L N C E | R P R I T S E P Q D A D V T S G p.260
. . . . . . g.72585
AACACCGTGTACTTCACCTGCAGAGCCGAAGGCAACCCCAAGCCTGAGATCATCTGGCTG c.840
N T V Y F T C R A E G N P K P E I I W L p.280
| 09 . . . . . g.75759
CGAAACAA | TAATGAGCTGAGCATGAAGACAGATTCCCGCCTAAACTTGCTGGACGATGGG c.900
R N N | N E L S M K T D S R L N L L D D G p.300
. . . . . . g.75819
ACCCTGATGATCCAGAACACACAGGAGACAGACCAGGGTATCTACCAGTGCATGGCAAAG c.960
T L M I Q N T Q E T D Q G I Y Q C M A K p.320
. . . . . | 10 g.83035
AACGTGGCCGGAGAGGTGAAGACGCAAGAGGTGACCCTCAGGTACTTCGGGTCTCCAG | CT c.1020
N V A G E V K T Q E V T L R Y F G S P A | p.340
. . . . . . g.83095
CGACCCACTTTTGTAATCCAGCCACAGAATACAGAGGTGCTGGTTGGGGAGAGCGTCACG c.1080
R P T F V I Q P Q N T E V L V G E S V T p.360
. . . . . . g.83155
CTGGAGTGCAGCGCCACAGGCCACCCCCCGCCGCGGATCTCCTGGACGAGAGGTGACCGC c.1140
L E C S A T G H P P P R I S W T R G D R p.380
. . . . . . g.83215
ACACCCTTGCCAGTTGACCCGCGGGTGAACATCACGCCTTCTGGCGGGCTTTACATACAG c.1200
T P L P V D P R V N I T P S G G L Y I Q p.400
. . . . . . g.83275
AACGTCGTACAGGGGGACAGCGGAGAGTATGCGTGCTCTGCGACCAACAACATTGACAGC c.1260
N V V Q G D S G E Y A C S A T N N I D S p.420
. . . | 11 . . . g.84474
GTCCATGCCACCGCTTTCATCATCGTCCAGG | CTCTTCCTCAGTTCACTGTGACGCCTCAG c.1320
V H A T A F I I V Q A | L P Q F T V T P Q p.440
. . . . . . g.84534
GACAGAGTCGTTATTGAGGGCCAGACCGTGGATTTCCAGTGTGAAGCCAAGGGCAACCCG c.1380
D R V V I E G Q T V D F Q C E A K G N P p.460
. . | 12 . . . g.85788
CCGCCCGTCATCGCCTGGACCAAGGGAG | GGAGCCAGCTCTCCGTGGACCGGCGGCACCTG c.1440
P P V I A W T K G G | S Q L S V D R R H L p.480
. . . . . . g.85848
GTCCTGTCATCGGGAACACTTAGAATCTCTGGTGTTGCCCTCCACGACCAGGGCCAGTAC c.1500
V L S S G T L R I S G V A L H D Q G Q Y p.500
. . . . . . g.85908
GAATGCCAGGCTGTCAACATCATCGGCTCCCAGAAGGTCGTGGCCCACCTGACTGTGCAG c.1560
E C Q A V N I I G S Q K V V A H L T V Q p.520
| 13. . . . . . g.87388
CCCAGAG | TCACCCCAGTGTTTGCCAGCATTCCCAGCGACACAACAGTGGAGGTGGGCGCC c.1620
P R V | T P V F A S I P S D T T V E V G A p.540
. . . . . . g.87448
AATGTGCAGCTCCCGTGCAGCTCCCAGGGCGAGCCCGAGCCAGCCATCACCTGGAACAAG c.1680
N V Q L P C S S Q G E P E P A I T W N K p.560
| 14 . . . . . . g.88542
| GATGGGGTTCAGGTGACAGAAAGTGGAAAATTTCACATCAGCCCTGAAGGATTCTTGACC c.1740
| D G V Q V T E S G K F H I S P E G F L T p.580
. . . . . . g.88602
ATCAATGACGTTGGCCCTGCAGACGCAGGTCGCTATGAGTGTGTGGCCCGGAACACCATT c.1800
I N D V G P A D A G R Y E C V A R N T I p.600
. . . | 15. . . g.95034
GGGTCGGCCTCGGTGAGCATGGTGCTCAGTGTGAATG | TTCCTGACGTCAGTCGAAATGGA c.1860
G S A S V S M V L S V N V | P D V S R N G p.620
. . . . . . g.95094
GATCCGTTTGTAGCTACCTCCATCGTGGAAGCGATTGCGACTGTTGACAGAGCTATAAAC c.1920
D P F V A T S I V E A I A T V D R A I N p.640
. . | 16 . . . . g.95768
TCAACCCGAACACATTTGTTTGACAG | CCGTCCTCGTTCTCCAAATGATTTGCTGGCCTTG c.1980
S T R T H L F D S | R P R S P N D L L A L p.660
. . . . . . g.95828
TTCCGGTATCCGAGGGATCCTTACACAGTTGAACAGGCACGGGCGGGAGAAATCTTTGAA c.2040
F R Y P R D P Y T V E Q A R A G E I F E p.680
. . . . . . g.95888
CGGACATTGCAGCTCATTCAGGAGCATGTACAGCATGGCTTGATGGTCGACCTCAACGGA c.2100
R T L Q L I Q E H V Q H G L M V D L N G p.700
| 17 . . . . . . g.99900
ACAA | GTTACCACTACAACGACCTGGTGTCTCCACAGTACCTGAACCTCATCGCAAACCTG c.2160
T S | Y H Y N D L V S P Q Y L N L I A N L p.720
. . . . . . g.99960
TCGGGCTGTACCGCCCACCGGCGCGTGAACAACTGCTCGGACATGTGCTTCCACCAGAAG c.2220
S G C T A H R R V N N C S D M C F H Q K p.740
. . . . . . g.100020
TACCGGACGCACGACGGCACCTGTAACAACCTGCAGCACCCCATGTGGGGCGCCTCGCTG c.2280
Y R T H D G T C N N L Q H P M W G A S L p.760
. . . . . . g.100080
ACCGCCTTCGAGCGCCTGCTGAAATCCGTGTACGAGAATGGCTTCAACACCCCTCGGGGC c.2340
T A F E R L L K S V Y E N G F N T P R G p.780
. . . . . . g.100140
ATCAACCCCCACCGACTGTACAACGGGCACGCCCTTCCCATGCCGCGCCTGGTGTCCACC c.2400
I N P H R L Y N G H A L P M P R L V S T p.800
. . . . . . g.100200
ACCCTGATCGGGACGGAGACCGTCACACCCGACGAGCAGTTCACCCACATGCTGATGCAG c.2460
T L I G T E T V T P D E Q F T H M L M Q p.820
. . . . . . g.100260
TGGGGCCAGTTCCTGGACCACGACCTCGACTCCACGGTGGTGGCCCTGAGCCAGGCACGC c.2520
W G Q F L D H D L D S T V V A L S Q A R p.840
. . . . . . g.100320
TTCTCCGACGGACAGCACTGCAGCAACGTGTGCAGCAACGACCCCCCCTGCTTCTCTGTC c.2580
F S D G Q H C S N V C S N D P P C F S V p.860
. . . . . . g.100380
ATGATCCCCCCCAATGACTCCCGGGCCAGGAGCGGGGCCCGCTGCATGTTCTTCGTGCGC c.2640
M I P P N D S R A R S G A R C M F F V R p.880
. . . . . . g.100440
TCCAGCCCTGTGTGCGGCAGCGGCATGACTTCGCTGCTCATGAACTCCGTGTACCCGCGG c.2700
S S P V C G S G M T S L L M N S V Y P R p.900
. . . . . . g.100500
GAGCAGATCAACCAGCTCACCTCCTACATAGACGCATCCAACGTGTACGGGAGCACGGAG c.2760
E Q I N Q L T S Y I D A S N V Y G S T E p.920
. . . . . . g.100560
CATGAGGCCCGCAGCATCCGCGACCTGGCCAGCCACCGCGGCCTGCTGCGGCAGGGCATC c.2820
H E A R S I R D L A S H R G L L R Q G I p.940
. . . . . . g.100620
GTGCAGCGGTCCGGGAAGCCGCTGCTCCCCTTCGCCACCGGGCCGCCCACGGAGTGCATG c.2880
V Q R S G K P L L P F A T G P P T E C M p.960
. . . . . . g.100680
CGGGACGAGAACGAGAGCCCCATCCCCTGCTTCCTGGCCGGGGACCACCGCGCCAACGAG c.2940
R D E N E S P I P C F L A G D H R A N E p.980
. . . . . . g.100740
CAGCTGGGCCTGACCAGCATGCACACGCTGTGGTTCCGCGAGCACAACCGCATTGCCACG c.3000
Q L G L T S M H T L W F R E H N R I A T p.1000
. . . . . . g.100800
GAGCTGCTCAAGCTGAACCCGCACTGGGACGGCGACACCATCTACTATGAGACCAGGAAG c.3060
E L L K L N P H W D G D T I Y Y E T R K p.1020
. . . . . . g.100860
ATCGTGGGTGCGGAGATCCAGCACATCACCTACCAGCACTGGCTCCCGAAGATCCTGGGG c.3120
I V G A E I Q H I T Y Q H W L P K I L G p.1040
. . . . . . g.100920
GAGGTGGGCATGAGGACGCTGGGAGAGTACCACGGCTACGACCCCGGCATCAATGCTGGC c.3180
E V G M R T L G E Y H G Y D P G I N A G p.1060
. . . . . . g.100980
ATCTTCAACGCCTTCGCCACCGCGGCCTTCAGGTTTGGCCACACGCTTGTCAACCCACTG c.3240
I F N A F A T A A F R F G H T L V N P L p.1080
. . . . . . g.101040
CTTTACCGGCTGGACGAGAACTTCCAGCCCATTGCACAAGATCACCTCCCCCTTCACAAA c.3300
L Y R L D E N F Q P I A Q D H L P L H K p.1100
. . . . . . g.101100
GCTTTCTTCTCTCCCTTCCGGATTGTGAATGAGGGCGGCATCGATCCGCTTCTCAGGGGG c.3360
A F F S P F R I V N E G G I D P L L R G p.1120
. . . . . . g.101160
CTGTTCGGGGTGGCGGGGAAAATGCGTGTGCCCTCGCAGCTGCTGAACACGGAGCTCACG c.3420
L F G V A G K M R V P S Q L L N T E L T p.1140
. . . . . . g.101220
GAGCGGCTGTTCTCCATGGCACACACGGTGGCTCTGGACCTGGCGGCCATCAACATCCAG c.3480
E R L F S M A H T V A L D L A A I N I Q p.1160
. . . . . . g.101280
CGGGGCCGGGACCACGGGATCCCACCCTACCACGACTACAGGGTCTACTGCAATCTATCG c.3540
R G R D H G I P P Y H D Y R V Y C N L S p.1180
. . . . . . g.101340
GCGGCACACACGTTCGAGGACCTGAAAAATGAGATTAAAAACCCTGAGATCCGGGAGAAA c.3600
A A H T F E D L K N E I K N P E I R E K p.1200
| 18 . . . . . g.104819
CTGAAAAG | GTTGTATGGCTCGACACTCAACATCGACCTGTTTCCGGCGCTCGTGGTGGAG c.3660
L K R | L Y G S T L N I D L F P A L V V E p.1220
. . . . . . g.104879
GACCTGGTGCCTGGCAGCCGGCTGGGCCCCACCCTGATGTGTCTTCTCAGCACACAGTTC c.3720
D L V P G S R L G P T L M C L L S T Q F p.1240
. . | 19 . . . . g.105980
AAGCGCCTGCGAGATGGGGACAG | GTTGTGGTATGAGAACCCTGGGGTGTTCTCCCCGGCC c.3780
K R L R D G D R | L W Y E N P G V F S P A p.1260
. . . . . . g.106040
CAGCTGACTCAGATCAAGCAGACGTCGCTGGCCAGGATCCTATGCGACAACGCGGACAAC c.3840
Q L T Q I K Q T S L A R I L C D N A D N p.1280
. . . . . . g.106100
ATCACCCGGGTGCAGAGCGACGTGTTCAGGGTGGCGGAGTTCCCTCACGGCTACGGCAGC c.3900
I T R V Q S D V F R V A E F P H G Y G S p.1300
. . . . . | 20 . g.110105
TGTGACGAGATCCCCAGGGTAGACCTCCGGGTGTGGCAGGACTGCTGTGAAG | ACTGTAGG c.3960
C D E I P R V D L R V W Q D C C E D | C R p.1320
. . . . . . g.110165
ACCAGGGGGCAGTTCAATGCCTTTTCCTATCATTTCCGAGGCAGACGGTCTCTTGAGTTC c.4020
T R G Q F N A F S Y H F R G R R S L E F p.1340
. . . . . | 21 . g.110548
AGCTACCAGGAGGACAAGCCGACCAAGAAAACAAGACCACGGAAAATACCCAG | TGTTGGG c.4080
S Y Q E D K P T K K T R P R K I P S | V G p.1360
. . . . . . g.110608
AGACAGGGGGAACATCTCAGCAACAGCACCTCAGCCTTCAGCACACGCTCAGATGCATCT c.4140
R Q G E H L S N S T S A F S T R S D A S p.1380
. . . . . . g.110668
GGGACAAATGACTTCAGAGAGTTTGTTCTGGAAATGCAGAAGACCATCACAGACCTCAGA c.4200
G T N D F R E F V L E M Q K T I T D L R p.1400
| 22 . . . . . . g.114052
ACACAG | ATAAAGAAACTTGAATCACGGCTCAGTACCACAGAGTGCGTGGATGCCGGGGGC c.4260
T Q | I K K L E S R L S T T E C V D A G G p.1420
. . . . . . g.114112
GAATCTCACGCCAACAACACCAAGTGGAAAAAAGATGCATGCACCATTTGTGAATGCAAA c.4320
E S H A N N T K W K K D A C T I C E C K p.1440
| 23 . . . . . . g.115256
| GACGGGCAGGTCACCTGCTTCGTGGAAGCTTGCCCCCCTGCCACCTGTGCTGTCCCCGTG c.4380
| D G Q V T C F V E A C P P A T C A V P V p.1460
. . . . . . g.115316
AACATCCCAGGGGCCTGCTGTCCAGTCTGCTTACAGAAGAGGGCGGAGGAAAAGCCCTAG c.4440
N I P G A C C P V C L Q K R A E E K P X p.1479
. . . . . . g.115376
gctcctgggaggctcctcagagtttgtctgctgtgccatcgtgagatcgggtggccgatg c.*60
. . . . . . g.115436
gcagggagctgcggactgcagaccaggaaacacccagaactcgtgacatttcatgacaac c.*120
. . . . . . g.115496
gtccagctggtgctgttacagaaggcagtgcaggaggcttccaaccagagcatctgcgga c.*180
. . . . . . g.115556
gaaggaggcacagcaggtgcctgaagggaagcaggcaggagtcctagcttcacgttagac c.*240
. . . . . . g.115616
ttctcaggtttttatttaattcttttaaaatgaaaaattggtgctactattaaattgcac c.*300
. . . . . . g.115676
agttgaatcatttaggcgcctaaattgattttgcctcccaacaccatttctttttaaata c.*360
. . . . . . g.115736
aagcaggatacctctatatgtcagccttgccttgttcagatgccaggagccggcagacct c.*420
. . . . . . g.115796
gtcacccgcaggtggggtgagtcttggagctgccagaggggctcaccgaaatcggggttc c.*480
. . . . . . g.115856
catcacaagctatgtttaaaaagaaaattggtgtttggcaaacggaacagaacctttgat c.*540
. . . . . . g.115916
gagagcgttcacagggacactgtctgggggtgcagtgcaagcccccggcctcttccctgg c.*600
. . . . . . g.115976
gaacctctgaactcctccttcctctgggctctctgtaacatttcaccacacgtcagcatc c.*660
. . . . . . g.116036
taatcccaagacaaacattcccgctgctcgaagcagctgtatagcctgtgactctccgtg c.*720
. . . . . . g.116096
tgtcagctccttccacacctgattagaacattcataagccacatttagaaacaggtttgc c.*780
. . . . . . g.116156
tttcagctgtcacttgcacacatactgcctagttgtgaaccaaatgtgaaaaaacctcct c.*840
. . . . . . g.116216
tcatcccattgtgtatctgatacctgccgagggccaagggtgtgtgttgacaacgccgct c.*900
. . . . . . g.116276
cccagccggccctggttgcgtccacgtcctgaacaagagccgcttccggatggctcttcc c.*960
. . . . . . g.116336
caagggaggaggagctcaagtgtcgggaactgtctaacttcaggttgtgtgagtgcgtta c.*1020
. . . . . . g.116396
aaaaaaaaaaaaaaaaagaatccctatacctcatttgtatttttaaaatgcgtgatgttt c.*1080
. . . . . . g.116456
tatgaaattgtgtccattttttaggtattagatatggcagaaaaaccatttccactatgc c.*1140
. . . . . . g.116516
aaagttcttttagacgtcagtgaaaatcaactctcatacctcatggtctctctttaattg c.*1200
. . . . . . g.116576
accaaaaccttccatttttctctaaatacaaagcgatctgtgttctgagcaacctttccc c.*1260
. . . . . . g.116636
cgaacacacagcttcagtgcagcacgctgacctgagtatccaccatgtgccaggcacagt c.*1320
. . . . . . g.116696
gctgggcacacgaggcaccaaggtccgggccacctgcccgcagcaaggcccagctgaggt c.*1380
. . . . . . g.116756
ggtggagggagcccctgaggtcaggggccgtttcggttcagggtggcaggtgtccagcac c.*1440
. . . . . . g.116816
tggggtatggcgtcgaggcttccatggggtgggggaggccagcttccttctgacaggatg c.*1500
. . . . . . g.116876
ggcgcatacagtgcctggtgtgatttgtgcacaacccgtgttccaggtgcacatcctccc c.*1560
. . . . . . g.116936
aaggagacacccagacccttccagcacgggccggccaagttgctgcggcggaggcagcat c.*1620
. . . . . . g.116996
ttcagctgtgaggaaggtcattggattcatgtgttttatctgtaaaaatggttgtcttaa c.*1680
. . . . . . g.117056
cttcttaacctcatattggtaagtgattgataaaaattggttggtgtttcatgacatgtg c.*1740
. . . . . . g.117116
gacttcttttgaaatagcaagtcaaatgtagtgaccaaattgtggaagagatttctgtca c.*1800
. . . . . . g.117176
aataggaaatgtgtaagttcgtctaaaagctgatggttatgtaagttgctcaggcactca c.*1860
. . . . . . g.117236
gatgacagcagattctgggttctgggagtgttctgtgcctcttacatgccctggaggcct c.*1920
. . . . . . g.117296
catggtctcagtgctgaggcggcacacctgtagcacacctgcgtaatgtgcggtctgggc c.*1980
. . . . . . g.117356
cagtcacaaggaattgtgttgtctaagccaaagggggaagctgactgtgatttaccaaaa c.*2040
. . . . . . g.117416
aaaattctgtaattcaaaccaaaatgtctgcggaatcaccagtttgatactctctgtaat c.*2100
. . . . . . g.117476
cagaacagtgggcagtgcctgggtgaacgtgtctagcagccactgtgcgggatcgctgta c.*2160
. . . . . . g.117536
acaggagtggaatgtacatatttatttacttttctaactgctccaacagccaaatgcctt c.*2220
. . . . . . g.117596
ttttatgaccattgtattcagttcattaccaaagaaatgtttgcactttgtaatgatgcc c.*2280
. . . g.117633
tttcagttcaaataaatgggtcacattttcaaatgga c.*2317
(downstream sequence)
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