(used for variant description)
(last modified October 18, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_005393.2 in the PLXNB3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013255.1, covering PLXNB3 transcript NM_005393.2.
(upstream sequence)
. . . . . g.5054
gatgagtcggactgggcacgattgcattgtggggagggaggctggggctctgtg c.-121
. . . . . . | 02 g.6280
agacgtgctcctggcaccgccagctgctacttggccctcgccggtggcccaccag | gacaa c.-61
. . . . . . g.6340
tgcccccccgcagccatctcatgcccatcgccactgccctggggcagctgaactgagcgt c.-1
. . . . | 03 . . g.7692
ATGTGCCACGCCGCCCAGGAGACCCCTCTGCTGCACCACTTCATG | GCCCCCGTGATGGCT c.60
M C H A A Q E T P L L H H F M | A P V M A p.20
. . . . . . g.7752
CGCTGGCCTCCCTTCGGCCTCTGCCTCCTCCTGCTGCTGCTGTCCCCACCGCCACTGCCC c.120
R W P P F G L C L L L L L L S P P P L P p.40
. . . . . . g.7812
TTGACAGGGGCCCATCGCTTCTCCGCACCTAATACCACTCTCAACCACTTGGCACTGGCA c.180
L T G A H R F S A P N T T L N H L A L A p.60
. . . . . . g.7872
CCTGGCCGAGGCACACTCTATGTCGGCGCAGTGAACCGCCTCTTCCAGCTCAGCCCCGAG c.240
P G R G T L Y V G A V N R L F Q L S P E p.80
. . . . . . g.7932
CTGCAGCTCGAGGCCGTGGCTGTCACTGGCCCTGTAATCGACAGCCCTGACTGCGTGCCC c.300
L Q L E A V A V T G P V I D S P D C V P p.100
. . . . . . g.7992
TTCCGTGACCCAGCCGAGTGCCCACAGGCCCAGCTCACTGACAATGCCAACCAGCTGCTG c.360
F R D P A E C P Q A Q L T D N A N Q L L p.120
. . . . . . g.8052
CTGGTGAGCAGCCGCGCCCAGGAGCTGGTGGCCTGCGGGCAGGTGCGGCAGGGCGTGTGT c.420
L V S S R A Q E L V A C G Q V R Q G V C p.140
. . . . . . g.8112
GAGACACGGCGCCTTGGGGATGTGGCCGAGGTGCTGTACCAGGCTGAGGACCCTGGTGAC c.480
E T R R L G D V A E V L Y Q A E D P G D p.160
. . . . . . g.8172
GGGCAGTTTGTGGCTGCCAATACCCCGGGAGTGGCAACGGTGGGGCTGGTGGTGCCCTTG c.540
G Q F V A A N T P G V A T V G L V V P L p.180
. . . . . . g.8232
CCCGGCCGGGACCTCCTGCTTGTGGCCAGAGGCCTGGCGGGCAAGCTGTCGGCAGGGGTG c.600
P G R D L L L V A R G L A G K L S A G V p.200
. . . . . . g.8292
CCACCCCTGGCCATCCGCCAGCTGGCCGGGTCTCAGCCCTTCTCCAGCGAGGGCCTGGGC c.660
P P L A I R Q L A G S Q P F S S E G L G p.220
. . . . . . g.8352
CGCCTGGTGGTGGGCGACTTCTCCGACTACAACAACAGCTACGTCGGGGCCTTTGCCGAC c.720
R L V V G D F S D Y N N S Y V G A F A D p.240
. . . . . . g.8412
GCCCGCTCCGCCTACTTCGTGTTCCGCCGCCGCGGGGCCCGGGCCCAGGCTGAGTACCGC c.780
A R S A Y F V F R R R G A R A Q A E Y R p.260
. . . . . . g.8472
TCCTACGTGGCCCGCGTCTGCCTGGGGGACACCAACCTGTACTCCTACGTGGAGGTCCCC c.840
S Y V A R V C L G D T N L Y S Y V E V P p.280
. . . . . . g.8532
CTCGCCTGCCAGGGCCAGGGCCTCATCCAGGCCGCCTTCCTTGCCCCGGGCACCTTGCTA c.900
L A C Q G Q G L I Q A A F L A P G T L L p.300
. . . . . . g.8592
GGGGTGTTTGCCGCGGGCCCAAGGGGCACCCAGGCGGCGCTCTGTGCCTTCCCCATGGTG c.960
G V F A A G P R G T Q A A L C A F P M V p.320
. . . . . . g.8652
GAGCTGGGTGCCAGCATGGAGCAGGCCCGGAGACTCTGCTACACGGCGGGCGGCCGGGGC c.1020
E L G A S M E Q A R R L C Y T A G G R G p.340
. . . . . . g.8712
CCCAGCGGCGCAGAGGAAGCCACCGTGGAGTACGGCGTCACGTCGCGCTGCGTCACCCTG c.1080
P S G A E E A T V E Y G V T S R C V T L p.360
| 04 . . . . . . g.9107
CCCCTT | GATTCCCCCGAGTCGTACCCCTGTGGCGACGAGCACACCCCCAGCCCCATTGCT c.1140
P L | D S P E S Y P C G D E H T P S P I A p.380
. . . . . . g.9167
GGCCGCCAGCCCCTGGAGGTCCAGCCTCTGCTGAAGCTCGGGCAGCCGGTCAGCGCCGTG c.1200
G R Q P L E V Q P L L K L G Q P V S A V p.400
. . . . . . g.9227
GCAGCTCTCCAGGCAGATGGGCACATGATAGCCTTCCTGGGGGACACCCAGGGCCAGCTG c.1260
A A L Q A D G H M I A F L G D T Q G Q L p.420
| 05 . . . . . . g.9806
TACAAG | GTCTTTCTCCACGGCTCCCAGGGCCAGGTTTACCACTCCCAGCAAGTGGGGCCT c.1320
Y K | V F L H G S Q G Q V Y H S Q Q V G P p.440
. . . . . . g.9866
CCAGGCTCAGCCATCAGCCCAGACCTGCTGCTGGACAGCAGTGGCAGTCACCTCTATGTC c.1380
P G S A I S P D L L L D S S G S H L Y V p.460
. | 06 . . . . . g.10011
CTGACTGCCCACCAG | GTGGACCGGATACCTGTGGCAGCCTGCCCCCAGTTCCCTGACTGT c.1440
L T A H Q | V D R I P V A A C P Q F P D C p.480
. . . . . | 07 . g.10615
GCCAGCTGCCTCCAGGCCCAGGACCCGCTGTGTGGCTGGTGTGTCCTCCAGGGCAG | GTGT c.1500
A S C L Q A Q D P L C G W C V L Q G R | C p.500
. . . . . . g.10675
ACCCGGAAGGGCCAGTGCGGGCGGGCAGGCCAGCTGAACCAGTGGCTGTGGAGTTATGAG c.1560
T R K G Q C G R A G Q L N Q W L W S Y E p.520
. . . . . . g.10735
GAGGACAGCCACTGCCTGCACATCCAGAGCCTGCTGCCGGGCCACCACCCCCGCCAGGAG c.1620
E D S H C L H I Q S L L P G H H P R Q E p.540
| 08 . . . . . g.10947
CAGGGCCAG | GTCACTTTGTCTGTCCCCCGGCTGCCCATCCTGGATGCAGATGAATACTTC c.1680
Q G Q | V T L S V P R L P I L D A D E Y F p.560
. . . . . . g.11007
CATTGTGCGTTCGGGGACTATGACAGCTTGGCTCATGTGGAAGGGCCCCACGTGGCCTGT c.1740
H C A F G D Y D S L A H V E G P H V A C p.580
. . . . | 09 . . g.11156
GTCACCCCTCCCCAAGACCAGGTGCCACTTAACCCTCCAGGCACAG | ACCACGTCACTGTG c.1800
V T P P Q D Q V P L N P P G T D | H V T V p.600
. . . . . . g.11216
CCCCTGGCCCTGATGTTCGAGGACGTGACTGTGGCTGCCACCAACTTCTCCTTTTATGAC c.1860
P L A L M F E D V T V A A T N F S F Y D p.620
. . . | 10 . . . g.11357
TGCAGTGCCGTCCAGGCCTTGGAGGCGGCTGCCCC | GTGTCGCGCTTGCGTGGGCAGCATC c.1920
C S A V Q A L E A A A P | C R A C V G S I p.640
. . . . . . g.11417
TGGCGGTGTCACTGGTGCCCGCAGAGTAGCCACTGCGTGTACGGAGAGCACTGCCCAGAG c.1980
W R C H W C P Q S S H C V Y G E H C P E p.660
. . . | 11 . . . g.11592
GGCGAGAGGACCATCTACAGCGCCCAGGAG | GTGGACATCCAGGTGCGTGGCCCAGGGGCT c.2040
G E R T I Y S A Q E | V D I Q V R G P G A p.680
. . . . . . g.11652
TGCCCACAGGTCGAAGGCCTGGCAGGTCCCCACCTGGTGCCTGTGGGCTGGGAGAGCCAT c.2100
C P Q V E G L A G P H L V P V G W E S H p.700
. . . | 12 . . . g.11793
TTGGCCCTACGCGTGCGGAACCTTCAACATTTCCGA | GGCCTGCCTGCCTCCTTCCACTGC c.2160
L A L R V R N L Q H F R | G L P A S F H C p.720
. . . . . . g.11853
TGGCTGGAGCTGCCTGGAGAACTTCGGGGACTGCCGGCCACCCTGGAGGAGACAGCAGGG c.2220
W L E L P G E L R G L P A T L E E T A G p.740
. . . | 13 . . . g.12141
GATTCAGGCCTCATCCACTGCCAGGCCCACCAG | TTTTATCCCTCCATGTCCCAGCGGGAG c.2280
D S G L I H C Q A H Q | F Y P S M S Q R E p.760
. . . . . . g.12201
CTCCCAGTGCCCATCTACGTCACCCAGGGTGAAGCCCAGAGGCTGGACAACACCCATGCT c.2340
L P V P I Y V T Q G E A Q R L D N T H A p.780
| 14. . . . . . g.12343
CTTTATG | TGATCCTGTACGACTGCGCCATGGGCCACCCGGACTGCAGCCACTGCCAAGCG c.2400
L Y V | I L Y D C A M G H P D C S H C Q A p.800
. . . . . . g.12403
GCCAACAGGAGCCTGGGCTGCCTGTGGTGTGCTGACGGCCAGCCTGCCTGTCGCTATGGG c.2460
A N R S L G C L W C A D G Q P A C R Y G p.820
. . . . . | 15. g.12671
CCCTTGTGCCCGCCGGGGGCTGTGGAGCTGCTGTGTCCTGCGCCCAGCATTGATGCA | GTC c.2520
P L C P P G A V E L L C P A P S I D A | V p.840
. . . . . . g.12731
GAGCCCCTGACCGGTCCCCCTGAGGGAGGCTTGGCCCTCACCATCCTGGGCTCCAACCTG c.2580
E P L T G P P E G G L A L T I L G S N L p.860
. . . . . . g.12791
GGCCGGGCCTTCGCCGATGTGCAGTACGCCGTGAGCGTGGCCAGCCGGCCCTGCAACCCT c.2640
G R A F A D V Q Y A V S V A S R P C N P p.880
. . | 16 . . . g.13017
GAGCCCTCTCTCTACCGCACGTCGGCCCG | GATTGTGTGTGTGACATCTCCTGCCCCCAAT c.2700
E P S L Y R T S A R | I V C V T S P A P N p.900
. . . . . . g.13077
GGCACCACTGGGCCCGTCCGGGTGGCCATTAAGAGCCAGCCACCAGGCATCTCAAGCCAG c.2760
G T T G P V R V A I K S Q P P G I S S Q p.920
. | 17 . . . . . g.13735
CACTTCACCTACCAG | GACCCTGTCCTGCTGAGCCTGAGTCCTCGCTGGGGCCCCCAGGCA c.2820
H F T Y Q | D P V L L S L S P R W G P Q A p.940
. . . . . . g.13795
GGGGGCACCCAGCTCACCATCCGAGGTCAGCACCTCCAGACAGGTGGCAACACCAGTGCC c.2880
G G T Q L T I R G Q H L Q T G G N T S A p.960
. . | 18 . . . . g.14068
TTCGTGGGTGGCCAACCCTGTCCCAT | CCTGGAGCCAGTGTGTCCGGAGGCCATCGTGTGC c.2940
F V G G Q P C P I | L E P V C P E A I V C p.980
. . . . . . g.14128
CGTACCAGGCCCCAGGCTGCCCCAGGAGAAGCAGCGGTCCTTGTGGTCTTTGGCCATGCC c.3000
R T R P Q A A P G E A A V L V V F G H A p.1000
. . . . . . g.14188
CAGCGCACACTGCTCGCCAGCCCCTTCCGCTACACCGCCAACCCCCAGCTTGTAGCGGCG c.3060
Q R T L L A S P F R Y T A N P Q L V A A p.1020
. . | 19 . . . . g.14359
GAGCCCAGTGCCAGCTTCCGGGG | GGGTGGGCGACTGATCCGTGTCAGGGGCACCGGCCTA c.3120
E P S A S F R G | G G R L I R V R G T G L p.1040
. . . . . . g.14419
GACGTGGTGCAGCGGCCCCTACTGTCTGTGTGGCTGGAGGCTGACGCAGAGGTGCAGGCT c.3180
D V V Q R P L L S V W L E A D A E V Q A p.1060
. . . . . . g.14479
TCCAGGGCCCAGCCCCAGGACCCACAGCCAAGGAGGAGCTGTGGAGCCCCTGCTGCGGAC c.3240
S R A Q P Q D P Q P R R S C G A P A A D p.1080
. . . | 20 . . g.14684
CCCCAGGCTTGTATCCAGCTCGGTGGGGGGCTGCTGCAG | TGCTCCACCGTCTGCTCCGTC c.3300
P Q A C I Q L G G G L L Q | C S T V C S V p.1100
. . . . . . g.14744
AACTCGTCCAGCCTCCTCCTGTGCCGGAGCCCTGCTGTACCAGACAGAGCCCACCCGCAG c.3360
N S S S L L L C R S P A V P D R A H P Q p.1120
. . . . . . g.14804
CGGGTCTTCTTCACCCTAGACAACGTGCAAGTGGACTTCGCCAGTGCCAGTGGGGGCCAG c.3420
R V F F T L D N V Q V D F A S A S G G Q p.1140
. . . . . . g.14864
GGCTTCCTGTACCAGCCCAACCCCCGCCTGGCACCCCTCAGCCGCGAGGGGCCTGCCCGC c.3480
G F L Y Q P N P R L A P L S R E G P A R p.1160
. . . | 21 . . g.15011
CCCTACCGCCTCAAGCCAGGCCATGTCCTGGATGTGGAG | GGCGAGGGCCTCAACCTGGGC c.3540
P Y R L K P G H V L D V E | G E G L N L G p.1180
. . . . . . g.15071
ATCAGCAAGGAGGAGGTGCGCGTGCACATCGGCCGCGGCGAGTGCCTGGTGAAGACGCTC c.3600
I S K E E V R V H I G R G E C L V K T L p.1200
. . . . . . g.15131
ACGCGCACCCACCTGTACTGCGAGCCGCCTGCGCACGCCCCGCAGCCTGCCAATGGCTCC c.3660
T R T H L Y C E P P A H A P Q P A N G S p.1220
. | 22 . . . . g.15266
GGCCTGCCACAGTTCGTG | GTGCAGATGGGCAATGTGCAGCTGGCCCTGGGCCCTGTGCAG c.3720
G L P Q F V | V Q M G N V Q L A L G P V Q p.1240
. . . . . . g.15326
TACGAGGCTGAACCCCCGCTGTCTGCCTTTCCCGTGGAGGCCCAGGCAGGCGTGGGCATG c.3780
Y E A E P P L S A F P V E A Q A G V G M p.1260
. . . . . | 23 . g.15520
GGTGCTGCAGTGCTGATTGCCGCCGTGCTCCTCCTCACCCTCATGTACAG | GCACAAGAGC c.3840
G A A V L I A A V L L L T L M Y R | H K S p.1280
. . . . . . g.15580
AAGCAGGCCCTGCGGGACTACCAGAAGGTGCTAGTGCAGCTGGAGAGCCTGGAGACCGGC c.3900
K Q A L R D Y Q K V L V Q L E S L E T G p.1300
. . . | 24 . . . g.15713
GTGGGAGACCAGTGCCGCAAGGAGTTCACAG | ACCTCATGACGGAGATGACCGACCTCAGC c.3960
V G D Q C R K E F T D | L M T E M T D L S p.1320
. . . . . . g.15773
AGCGACCTGGAGGGCAGCGGGATCCCCTTCCTGGACTACCGCACCTACGCCGAGCGCGCC c.4020
S D L E G S G I P F L D Y R T Y A E R A p.1340
. . . . . . g.15833
TTCTTCCCTGGCCATGGCGGTTGCCCGCTGCAGCCCAAGCCTGAGGGGCCAGGGGAGGAC c.4080
F F P G H G G C P L Q P K P E G P G E D p.1360
. . . . . . g.15893
GGCCACTGTGCCACTGTGCGCCAGGGCCTCACGCAGCTCTCCAACCTGCTCAACAGCAAG c.4140
G H C A T V R Q G L T Q L S N L L N S K p.1380
. | 25 . . . . . g.16074
CTCTTCCTCCTCACG | CTCATCCACACCCTGGAGGAGCAGCCCAGCTTTTCCCAGAGGGAT c.4200
L F L L T | L I H T L E E Q P S F S Q R D p.1400
. . . . . . g.16134
CGCTGCCATGTGGCTTCGCTGCTGTCGCTAGCGCTACACGGCAAGCTGGAGTACCTGACG c.4260
R C H V A S L L S L A L H G K L E Y L T p.1420
. . . . . . g.16194
GACATCATGAGGACCCTGCTGGGTGACCTGGCGGCCCATTACGTGCACAGGAACCCCAAG c.4320
D I M R T L L G D L A A H Y V H R N P K p.1440
. | 26 . . . . . g.16444
CTCATGCTACGCAG | GACAGAGACCATGGTGGAGAAACTGCTCACCAACTGGCTGTCCATC c.4380
L M L R R | T E T M V E K L L T N W L S I p.1460
. . | 27 . . . . g.16730
TGCCTGTACGCCTTCCTGAGG | GAGGTGGCTGGTGAACCACTGTACATGCTCTTCCGGGCC c.4440
C L Y A F L R | E V A G E P L Y M L F R A p.1480
. . . . . . g.16790
ATCCAGTACCAGGTGGACAAAGGCCCCGTGGACGCCGTGACAGGCAAGGCCAAACGGACC c.4500
I Q Y Q V D K G P V D A V T G K A K R T p.1500
. . . . . . g.16850
CTGAATGATAGCCGCTTGCTGCGGGAGGACGTGGAGTTCCAGCCCCTGACGCTGATGGTG c.4560
L N D S R L L R E D V E F Q P L T L M V p.1520
. . . . . . g.16910
CTGGTGGGGCCCGGGGCTGGCGGGGCCGCAGGCAGCAGCGAGATGCAGCGCGTGCCAGCC c.4620
L V G P G A G G A A G S S E M Q R V P A p.1540
. . . . . . g.16970
CGGGTGCTCGACACGGACACCATCACCCAGGTCAAGGAGAAGGTGTTGGACCAAGTCTAC c.4680
R V L D T D T I T Q V K E K V L D Q V Y p.1560
. . . . | 28 . g.17171
AAGGGCACCCCCTTCTCCCAGAGGCCCTCAGTGCATGCCCTAGACCTTG | AGTGGCGCTCA c.4740
K G T P F S Q R P S V H A L D L E | W R S p.1580
. . . . . . g.17231
GGCCTGGCTGGTCACCTGACCCTATCGGACGAAGACTTGACCTCCGTGACCCAAAACCAC c.4800
G L A G H L T L S D E D L T S V T Q N H p.1600
. . . | 29 . . . g.17718
TGGAAGAGACTCAACACCTTGCAACACTACAAG | GTCCCAGATGGAGCAACAGTGGGGCTC c.4860
W K R L N T L Q H Y K | V P D G A T V G L p.1620
. . . . . . g.17778
GTCCCTCAGCTGCACCGTGGCAGCACCATCTCCCAGAGCCTGGCCCAGAGGTGCCCCTTG c.4920
V P Q L H R G S T I S Q S L A Q R C P L p.1640
| 30. . . . . . g.18065
GGAGAGA | ACATACCCACGCTGGAGGATGGCGAGGAGGGGGGGGTGTGCCTCTGGCACCTG c.4980
G E N | I P T L E D G E E G G V C L W H L p.1660
. . . . . . g.18125
GTGAAAGCCACCGAGGAGCCAGAAGGGGCCAAGGTGCGGTGCAGCAGCCTGCGGGAGCGC c.5040
V K A T E E P E G A K V R C S S L R E R p.1680
. . . . . . g.18185
GAGCCAGCAAGGGCCAAGGCCATTCCGGAAATCTACCTCACCCGTCTGCTGTCCATGAAG c.5100
E P A R A K A I P E I Y L T R L L S M K p.1700
| 31 . . . . . . g.18392
| GGCACGCTGCAGAAGTTTGTGGACGACACCTTCCAGGCCATTCTCAGCGTGAACCGGCCC c.5160
| G T L Q K F V D D T F Q A I L S V N R P p.1720
. . . . . . g.18452
ATCCCCATCGCCGTCAAGTACCTGTTTGACCTTCTGGATGAGCTAGCAGAGAAGCACGGC c.5220
I P I A V K Y L F D L L D E L A E K H G p.1740
. . . . | 32 . . g.18771
ATCGAGGACCCAGGGACCCTGCACATCTGGAAGACCAACAG | TCTGCTGCTGCGGTTCTGG c.5280
I E D P G T L H I W K T N S | L L L R F W p.1760
. . . . . . g.18831
GTGAATGCCTTGAAGAACCCACAGCTCATCTTTGATGTACGGGTGTCGGACAATGTGGAC c.5340
V N A L K N P Q L I F D V R V S D N V D p.1780
. . . . . . g.18891
GCCATCCTTGCTGTCATCGCCCAGACCTTCATTGACTCCTGTACCACCTCGGAGCATAAA c.5400
A I L A V I A Q T F I D S C T T S E H K p.1800
| 33 . . . . . g.19116
GTGGGCCGG | GATTCCCCAGTGAACAAACTGCTCTACGCCCGGGAGATCCCACGCTACAAG c.5460
V G R | D S P V N K L L Y A R E I P R Y K p.1820
. | 34 . . . . . g.19246
CAGATGGTGGAGAG | GTACTATGCGGACATTCGCCAGAGCTCTCCGGCGAGCTACCAGGAG c.5520
Q M V E R | Y Y A D I R Q S S P A S Y Q E p.1840
. . . | 35 . . . g.19434
ATGAACTCTGCTTTGGCTGAGCTCTCCGGG | AACTACACTTCTGCTCCCCACTGTCTGGAG c.5580
M N S A L A E L S G | N Y T S A P H C L E p.1860
. . . . | 36 . . g.19754
GCTCTGCAAGAACTCTACAACCACATCCACAGGTACTATGATCAG | ATTATCAGTGCCCTG c.5640
A L Q E L Y N H I H R Y Y D Q | I I S A L p.1880
. . . . . . g.19814
GAGGAGGACCCTGTGGGCCAGAAGCTGCAGCTGGCCTGCCGCCTGCAGCAGGTCGCCGCC c.5700
E E D P V G Q K L Q L A C R L Q Q V A A p.1900
. . . g.19844
CTGGTGGAAAACAAAGTGACTGACCTGTGA c.5730
L V E N K V T D L X p.1909
. . . . . . g.19904
gctctggctcagacagcagcaagccggatccaccaacaccgcagcgccttatgaccccgg c.*60
. . . . . . g.19964
aaccgagccagccactgaggggagctggcagagcctgggggcacagggtgcaaagccagg c.*120
. . . . . . g.20024
cactgtgcccagcagtgggctccctgcctgccacctcccctgccagcccacccaccttcc c.*180
. . . . . . g.20084
ccccacctgagattgtttctaatttataaggatccccctccttccccctctccccattgt c.*240
. . . . . . g.20144
atttatttgcctgctggaaaatcacatccggaaataaaatagaaatatgtctttttattt c.*300
g.20151
tattttg c.*307
(downstream sequence)
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