(used for variant description)
(last modified February 25, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_144651.4 in the PXDNL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering PXDNL transcript NM_144651.4.
(upstream sequence)
. . . . g.5041
agtccagcagccaccatcaccaccactgcggttgctgctgc c.-61
. . . . . . g.5101
agctgcagctgctgctctccctccggctgcttcttcgcgtggccagcagcgaatggagcg c.-1
. . . . . . g.5161
ATGGAGCCCAGACTGTTCTGCTGGACCACTCTCTTTCTCCTGGCCGGGTGGTGCCTGCCA c.60
M E P R L F C W T T L F L L A G W C L P p.20
. . . . . . g.5221
GGGTTGCCCTGCCCCAGCCGGTGCCTTTGCTTTAAGAGCACCGTCCGCTGCATGCACTTG c.120
G L P C P S R C L C F K S T V R C M H L p.40
. . . . | 02 . . g.159701
ATGCTGGACCACATTCCTCAGGTACCACAGCAGACCACAGTTCT | AGACTTGAGGTTTAAC c.180
M L D H I P Q V P Q Q T T V L | D L R F N p.60
. . . . . | 03 . g.221751
AGAATAAGAGAAATTCCAGGGAGCGCCTTCAAGAAACTCAAGAATTTGAACACACT | TCTG c.240
R I R E I P G S A F K K L K N L N T L | L p.80
. . . . . . g.221811
CTGAACAACAACCACATCAGAAAGATTTCCAGAAATGCTTTTGAAGGACTTGAAAATTTG c.300
L N N N H I R K I S R N A F E G L E N L p.100
| 04 . . . . . g.257586
CTATATCT | GTACCTGTATAAGAATGAAATCCATGCACTAGATAAGCAAACATTTAAAGGA c.360
L Y L | Y L Y K N E I H A L D K Q T F K G p.120
. . | 05 . . . . g.314715
CTCATATCTTTGGAACATCT | GTATATTCATTTCAACCAACTAGAAATGCTACAGCCAGAG c.420
L I S L E H L | Y I H F N Q L E M L Q P E p.140
. . . | 06 . . . g.330759
ACCTTTGGAGACCTTCTGAGATTAGAGCGACT | ATTTTTGCATAACAACAAATTATCTAAA c.480
T F G D L L R L E R L | F L H N N K L S K p.160
. . . . | 07 . . g.339320
ATTCCAGCTGGGAGCTTTTCTAATCTGGATTCATTAAAAAGATT | GCGTCTGGATTCCAAC c.540
I P A G S F S N L D S L K R L | R L D S N p.180
. . . . . . g.339380
GCCCTGGTTTGTGACTGTGATCTGATGTGGCTGGGGGAGCTTTTACAAGGCTTTGCCCAA c.600
A L V C D C D L M W L G E L L Q G F A Q p.200
. . . . . . g.339440
CACGGCCACACCCAGGCTGCGGCTACCTGCGAATATCCCAGGAGACTCCATGGGCGTGCA c.660
H G H T Q A A A T C E Y P R R L H G R A p.220
. . . | 08 . . . g.342167
GTTGCTTCAGTAACAGTAGAGGAATTCAATTGCC | AGAGCCCCCGAATTACTTTTGAGCCG c.720
V A S V T V E E F N C Q | S P R I T F E P p.240
. . . . . . g.342227
CAGGATGTGGAGGTACCATCAGGAAATACCGTCTACTTCACCTGCCGGGCGGAAGGAAAC c.780
Q D V E V P S G N T V Y F T C R A E G N p.260
. . . | 09 . . . g.356806
CCCAAACCTGAGATTATTTGGATACACAACAA | CCACTCATTGGATTTGGAAGATGATACT c.840
P K P E I I W I H N N | H S L D L E D D T p.280
. . . . . . g.356866
CGACTTAATGTGTTTGATGATGGCACACTCATGATCCGAAACACCAGAGAGTCAGACCAA c.900
R L N V F D D G T L M I R N T R E S D Q p.300
. . . . . . g.356926
GGTGTCTATCAGTGCATGGCCAGAAATTCCGCTGGGGAAGCCAAGACACAGAGTGCCATG c.960
G V Y Q C M A R N S A G E A K T Q S A M p.320
. . | 10 . . . . g.360698
CTCAGATACTCCAGTCTTCCAG | CCAAACCAAGCTTTGTAATCCAGCCTCAGGACACAGAG c.1020
L R Y S S L P A | K P S F V I Q P Q D T E p.340
. . . . . . g.360758
GTTTTAATTGGCACCAGCACAACTTTGGAATGTATGGCCACAGGCCACCCACACCCTCTT c.1080
V L I G T S T T L E C M A T G H P H P L p.360
. . . . . . g.360818
ATCACTTGGACCAGGGACAATGGATTGGAGCTGGATGGATCCAGGCACGTGGCAACGTCC c.1140
I T W T R D N G L E L D G S R H V A T S p.380
. . . . . . g.360878
AGTGGACTTTACTTACAGAACATCACACAACGGGATCATGGTCGATTTACCTGTCATGCC c.1200
S G L Y L Q N I T Q R D H G R F T C H A p.400
. . . . | 11 . g.365338
AACAATAGCCACGGCACTGTTCAAGCTGCAGCAAACATAATTGTACAAG | CTCCTCCACAA c.1260
N N S H G T V Q A A A N I I V Q A | P P Q p.420
. . . . . . g.365398
TTTACAGTAACCCCCAAGGATCAAGTGGTGCTGGAAGAACATGCTGTAGAGTGGCTCTGT c.1320
F T V T P K D Q V V L E E H A V E W L C p.440
. . . . | 12 . . g.367297
GAAGCTGACGGCAACCCACCTCCTGTTATTGTCTGGACAAAAACAG | GAGGGCAGCTCCCT c.1380
E A D G N P P P V I V W T K T G | G Q L P p.460
. . . . . . g.367357
GTGGAAGGCCAGCATACAGTTCTCTCCTCTGGCACTTTGAGAATTGACCGTGCAGCACAG c.1440
V E G Q H T V L S S G T L R I D R A A Q p.480
. . . . . . g.367417
CACGATCAAGGCCAATATGAATGTCAAGCAGTCAGTTCGTTGGGGGTGAAAAAGGTGTCT c.1500
H D Q G Q Y E C Q A V S S L G V K K V S p.500
. . | 13 . . . . g.387722
GTGCAGCTGACTGTAAAACCCAAAG | CTCTTGCAGTGTTTACTCAACTTCCTCAGGATACA c.1560
V Q L T V K P K A | L A V F T Q L P Q D T p.520
. . . . . . g.387782
AGTGTCGAGGTTGGAAAGAATATAAACATTTCATGTCATGCTCAAGGAGAACCACAGCCC c.1620
S V E V G K N I N I S C H A Q G E P Q P p.540
. | 14 . . . . g.390756
ATAATTACTTGGAATAAG | GAAGGTGTGCAGATTACTGAGAGTGGTAAATTCCATGTGGAT c.1680
I I T W N K | E G V Q I T E S G K F H V D p.560
. . . . . . g.390816
GATGAAGGCACGCTGACTATCTACGACGCAGGGTTCCCTGACCAGGGAAGATATGAATGT c.1740
D E G T L T I Y D A G F P D Q G R Y E C p.580
. . . . . | 15 . g.401192
GTGGCTCGGAATTCTTTTGGCCTTGCTGTGACCAACATGTTTCTTACAGTCACGG | CTATA c.1800
V A R N S F G L A V T N M F L T V T A | I p.600
. . . . . . g.401252
CAGGGTAGACAAGCTGGCGATGACTTTGTTGAATCTTCCATTCTTGATGCTGTACAGAGA c.1860
Q G R Q A G D D F V E S S I L D A V Q R p.620
. . . . | 16 . . g.403054
GTTGACAGTGCAATTAACTCCACACGAAGACATTTGTTTTCACA | AAAACCTCACACCTCC c.1920
V D S A I N S T R R H L F S Q | K P H T S p.640
. . . . . . g.403114
AGTGACCTGCTGGCTCAATTTCATTACCCGCGTGACCCACTGATTGTGGAAATGGCAAGA c.1980
S D L L A Q F H Y P R D P L I V E M A R p.660
. . . . . . g.403174
GCAGGGGAGATTTTTGAGCACACGCTGCAGCTGATACGGGAACGTGTGAAGCAGGGGCTC c.2040
A G E I F E H T L Q L I R E R V K Q G L p.680
. . | 17 . . . . g.404922
ACTGTGGACTTGGAAGGCAAAG | AATTCCGGTACAATGACTTGGTGTCCCCGCGCTCCCTC c.2100
T V D L E G K E | F R Y N D L V S P R S L p.700
. . . . . . g.404982
AGCCTCATCGCCAATTTATCTGGATGCACAGCTCGCAGGCCTCTGCCAAACTGCTCCAAC c.2160
S L I A N L S G C T A R R P L P N C S N p.720
. . . . . . g.405042
CGGTGTTTCCATGCGAAGTACCGCGCCCACGACGGCACGTGCAACAACCTGCAGCAGCCC c.2220
R C F H A K Y R A H D G T C N N L Q Q P p.740
. . . . . . g.405102
ACGTGGGGCGCGGCGCTGACCGCCTTCGCGCGCCTGCTGCAGCCAGCCTACCGGGACGGC c.2280
T W G A A L T A F A R L L Q P A Y R D G p.760
. . . . . . g.405162
ATCCGCGCGCCCCGCGGGCTCGGCCTTCCTGTGGGCTCCCGCCAGCCCCTCCCGCCGCCC c.2340
I R A P R G L G L P V G S R Q P L P P P p.780
. . . . . . g.405222
CGGCTGGTCGCCACAGTGTGGGCGCGCGCGGCGGCCGTCACCCCCGACCACAGCTACACG c.2400
R L V A T V W A R A A A V T P D H S Y T p.800
. . . . . . g.405282
CGCATGCTCATGCACTGGGGCTGGTTTCTAGAGCACGACTTGGACCACACAGTGCCTGCG c.2460
R M L M H W G W F L E H D L D H T V P A p.820
. . . . . . g.405342
CTGAGCACAGCCCGCTTCTCGGATGGGCGGCCGTGCAGCTCCGTCTGCACCAACGACCCT c.2520
L S T A R F S D G R P C S S V C T N D P p.840
. . . . . . g.405402
CCTTGTTTCCCCATGAACACCCGGCACGCCGACCCCCGGGGCACCCACGCGCCCTGCATG c.2580
P C F P M N T R H A D P R G T H A P C M p.860
. . . . . . g.405462
CTCTTCGCGCGCTCCAGCCCCGCGTGTGCCAGCGGCCGTCCCTCTGCGACGGTGGATTCA c.2640
L F A R S S P A C A S G R P S A T V D S p.880
. . . . . . g.405522
GTCTATGCACGAGAGCAGATCAACCAGCAAACAGCCTACATCGATGGCTCCAACGTTTAC c.2700
V Y A R E Q I N Q Q T A Y I D G S N V Y p.900
. . . . . . g.405582
GGGAGCTCGGAGCGGGAATCCCAGGCTCTCAGAGACCCTTCGGTGCCTCGGGGTCTCCTG c.2760
G S S E R E S Q A L R D P S V P R G L L p.920
. . . . . . g.405642
AAGACAGGCTTTCCTTGGCCTCCCTCCGGAAAGCCCTTATTGCCCTTTTCTACAGGCCCA c.2820
K T G F P W P P S G K P L L P F S T G P p.940
. . . . . . g.405702
CCCACCGAGTGCGCGCGACAGGAGCAGGAGAGCCCCTGTTTCCTGGCCGGGGACCACCGG c.2880
P T E C A R Q E Q E S P C F L A G D H R p.960
. . . . . . g.405762
GCCAACGAGCATCTGGCTCTGGCCGCCATGCACACCCTGTGGTTCCGGGAACACAACAGG c.2940
A N E H L A L A A M H T L W F R E H N R p.980
. . . . . . g.405822
ATGGCCACGGAGCTGTCCGCCCTGAACCCCCACTGGGAGGGAAACACGGTTTACCAGGAA c.3000
M A T E L S A L N P H W E G N T V Y Q E p.1000
. . . . . . g.405882
GCCAGGAAGATCGTGGGCGCGGAGCTGCAGCACATCACCTACAGCCACTGGCTGCCTAAG c.3060
A R K I V G A E L Q H I T Y S H W L P K p.1020
. . . . . . g.405942
GTCCTGGGGGACCCTGGCACTAGGATGCTGAGGGGTTACCGAGGCTACAACCCCAACGTG c.3120
V L G D P G T R M L R G Y R G Y N P N V p.1040
. . . . . . g.406002
AATGCAGGCATCATTAACTCTTTTGCTACTGCAGCCTTTAGATTTGGCCACACATTAATC c.3180
N A G I I N S F A T A A F R F G H T L I p.1060
. . . . . . g.406062
AATCCTATTCTTTACCGACTGAATGCCACCTTAGGTGAAATTTCCGAAGGCCACCTTCCG c.3240
N P I L Y R L N A T L G E I S E G H L P p.1080
. . . . . . g.406122
TTCCATAAAGCGCTCTTTTCACCGTCCAGAATAATCAAGGAAGGTGGGATAGACCCGGTT c.3300
F H K A L F S P S R I I K E G G I D P V p.1100
. . . . . . g.406182
CTCCGGGGGCTGTTTGGCGTGGCTGCTAAATGGCGGGCACCCTCCTACCTTCTCAGTCCT c.3360
L R G L F G V A A K W R A P S Y L L S P p.1120
. . . . . . g.406242
GAGCTGACCCAGAGGCTCTTCTCCGCGGCTTATTCTGCGGCCGTGGATTCGGCTGCCACC c.3420
E L T Q R L F S A A Y S A A V D S A A T p.1140
. . . . . . g.406302
ATCATTCAAAGGGGTAGAGACCACGGGATCCCACCATATGTTGACTTCAGAGTTTTCTGT c.3480
I I Q R G R D H G I P P Y V D F R V F C p.1160
. . . . . . g.406362
AATTTGACTTCAGTTAAGAACTTTGAGGATCTTCAAAATGAAATTAAAGATTCAGAGATT c.3540
N L T S V K N F E D L Q N E I K D S E I p.1180
. | 18. . . . . g.439757
AGACAAAAACTGAGAAA | GTTGTACGGCTCTCCAGGTGACATTGACCTCTGGCCCGCCCTT c.3600
R Q K L R K | L Y G S P G D I D L W P A L p.1200
. . . . . . g.439817
ATGGTTGAAGACCTGATTCCTGGTACAAGAGTGGGACCAACACTTATGTGCCTGTTTGTT c.3660
M V E D L I P G T R V G P T L M C L F V p.1220
. . . | 19 . . . g.442392
ACCCAGTTTCAGCGGCTAAGAGATGGAGATAG | GTTCTGGTATGAAAACCCTGGAGTATTT c.3720
T Q F Q R L R D G D R | F W Y E N P G V F p.1240
. . . . . . g.442452
ACCCCGGCACAACTCACTCAGCTGAAGCAGGCGTCCCTGAGCCGGGTGCTTTGTGACAAT c.3780
T P A Q L T Q L K Q A S L S R V L C D N p.1260
. . . . . . g.442512
GGTGACAGCATTCAGCAAGTGCAGGCTGATGTCTTTGTAAAGGCAGAATACCCACAGGAT c.3840
G D S I Q Q V Q A D V F V K A E Y P Q D p.1280
. . . . . . g.442572
TACCTGAACTGCAGCGAGATCCCGAAGGTGGACCTGCGAGTGTGGCAAGACTGCTGTGCA c.3900
Y L N C S E I P K V D L R V W Q D C C A p.1300
| 20 . . . . . . g.468557
G | ACTGTAGGAGTAGAGGACAGTTCAGAGCAGTGACGCAAGAGTCTCAAAAGAAACGCTCA c.3960
D | C R S R G Q F R A V T Q E S Q K K R S p.1320
. . . . . | 21 . g.474696
GCTCAATACAGCTATCCTGTTGATAAGGATATGGAGTTAAGTCATCTAAGAAGTAG | GCAA c.4020
A Q Y S Y P V D K D M E L S H L R S R | Q p.1340
. . . . . . g.474756
CAAGATAAAATATATGTGGGTGAAGATGCTAGAAATGTGACAGTTCTGGCAAAAACAAAG c.4080
Q D K I Y V G E D A R N V T V L A K T K p.1360
. . . . . . g.474816
TTCTCCCAAGATTTCAGCACGTTTGCAGCGGAAATTCAGGAAACCATCACAGCACTCAGA c.4140
F S Q D F S T F A A E I Q E T I T A L R p.1380
| 22 . . . . . . g.493602
GAGCAG | ATAAACAAGCTGGAGGCACGCCTGAGGCAGGCAGGGTGTACAGATGTTAGAGGG c.4200
E Q | I N K L E A R L R Q A G C T D V R G p.1400
. . . . . . g.493662
GTTCCAAGGAAGGCCGAGGAGCGCTGGATGAAAGAAGACTGCACTCACTGCATTTGTGAG c.4260
V P R K A E E R W M K E D C T H C I C E p.1420
| 23 . . . . . . g.494483
| AGTGGCCAGGTCACCTGTGTGGTGGAGATTTGTCCCCCGGCTCCCTGTCCCAGTCCTGAA c.4320
| S G Q V T C V V E I C P P A P C P S P E p.1440
. . . . . . g.494543
TTGGTGAAAGGAACCTGCTGTCCAGTTTGCAGAGACCGAGGAATGCCAAGTGATTCCCCA c.4380
L V K G T C C P V C R D R G M P S D S P p.1460
. g.494555
GAGAAGCGCTAA c.4392
E K R X p.1463
. . . . . . g.494615
taaaagttttgtgctgttgagccccaaatgggaaatttctcaggaagagacatttaggac c.*60
. . . . . . g.494675
ttcagaacttttaacttgtagtcacattgttgatatggaaaccactgacttaagcaactt c.*120
. . . . . . g.494735
agttcatctaatcttacatatacttacgatcttttattttttcattttctaacatacctt c.*180
. . . . . . g.494795
gaaataattcaaaactaaaagcaataaagtgcatatgaagtgtttgatcataagaaatat c.*240
. . . . . . g.494855
ttcttactgtaagctgtcagttttatatgccacacctggaaataaaaagaatatcatgga c.*300
. g.494869
atatttaaaaaata c.*314
(downstream sequence)
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