(used for variant description)
(last modified March 10, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_020631.4 in the PLEKHG5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering PLEKHG5 transcript NM_020631.4.
(upstream sequence)
. . . g.33392
gagatgaagaccagggagaggaaagggtggac c.-121
. . . . | 02 . . g.47430
ctgaggcccccatggagaagggacgggcaggat | gtatgtcaccacgccgactgccagcag c.-61
. . . . . . g.47490
ctgcaccgccgggggcccctcaacctctgcgaggcctgtgacagcaagttccacagcacc c.-1
. . . . | 03 . . g.49042
ATGCATTATGATGGGCATGTCCGCTTCGACCTTCCCCCACAAG | GCTCTGTGCTGGCCCGG c.60
M H Y D G H V R F D L P P Q G | S V L A R p.20
. . . . . . g.49102
AACGTGTCCACCCGGTCATGCCCGCCGCGCACCAGCCCCGCAGTGGACTTGGAGGAGGAG c.120
N V S T R S C P P R T S P A V D L E E E p.40
. . | 04 . . . g.49570
GAGGAGGAGAGCTCTGTGGATGGCAAAGG | GGACCGGAAGAGCACAGGCCTGAAACTCTCC c.180
E E E S S V D G K G | D R K S T G L K L S p.60
. . . | 05 . . . g.49953
AAGAAGAAAGCAAGGAGGAGACACACGGAT | GACCCAAGCAAGGAATGCTTCACTCTGAAA c.240
K K K A R R R H T D | D P S K E C F T L K p.80
. . . . . . g.50013
TTTGACCTGAATGTGGACATTGAGACAGAGATCGTCCCAGCCATGAAGAAGAAGTCACTG c.300
F D L N V D I E T E I V P A M K K K S L p.100
| 06 . . . . . . g.50532
GG | GGAGGTGCTGCTGCCTGTATTTGAAAGGAAGGGCATTGCGCTGGGCAAAGTGGACATC c.360
G | E V L L P V F E R K G I A L G K V D I p.120
. . . . . . g.50592
TACCTGGACCAGTCCAACACACCCCTGTCCCTCACCTTCGAGGCCTACAGGTTCGGGGGA c.420
Y L D Q S N T P L S L T F E A Y R F G G p.140
. | 07 . . . . g.50938
CACTACCTTCGTGTCAAAG | CCCCAGCCAAGCCTGGAGATGAGGGCAAGGTGGAGCAGGGC c.480
H Y L R V K A | P A K P G D E G K V E Q G p.160
. . . . . . g.50998
ATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCC c.540
M K D S K S L S L P I L R P A G T G P P p.180
. . . . . | 08 . g.51616
GCCCTGGAGCGTGTGGACGCCCAGAGCCGCCGGGAGAGCCTGGACATCTTG | GCCCCTGGC c.600
A L E R V D A Q S R R E S L D I L | A P G p.200
. . . . . . g.51676
CGCCGCCGCAAGAACATGTCGGAGTTCCTGGGGGAGGCGAGCATCCCCGGGCAGGAGCCC c.660
R R R K N M S E F L G E A S I P G Q E P p.220
. . . . . . g.51736
CCCACGCCCTCCAGCTGCTCTCTGCCCAGCGGCAGCAGTGGCAGCACCAACACTGGCGAC c.720
P T P S S C S L P S G S S G S T N T G D p.240
. . . . . . g.51796
AGCTGGAAGAACCGGGCGGCCAGTCGCTTCAGCGGCTTTTTCAGCTCCGGCCCCAGCACC c.780
S W K N R A A S R F S G F F S S G P S T p.260
. | 09 . . . . . g.51932
AGCGCCTTTGGCCGG | GAGGTAGACAAGATGGAGCAGCTGGAGGGCAAGCTGCACACCTAC c.840
S A F G R | E V D K M E Q L E G K L H T Y p.280
. . . . . . g.51992
AGCCTCTTCGGGCTGCCCAGGCTGCCCCGGGGGCTGCGCTTCGACCATGACTCCTGGGAG c.900
S L F G L P R L P R G L R F D H D S W E p.300
. . . . . . g.52052
GAGGAGTACGATGAAGACGAGGATGAGGACAATGCCTGCCTGAGGCTGGAGGACAGCTGG c.960
E E Y D E D E D E D N A C L R L E D S W p.320
. . | 10 . . . . g.52475
CGGGAGCTCATTGATGGGCATGAG | AAGCTGACCCGGCGGCAGTGCCACCAGCAGGAGGCG c.1020
R E L I D G H E | K L T R R Q C H Q Q E A p.340
. . . . . . g.52535
GTGTGGGAGCTGCTGCACACGGAGGCCTCCTACATCAGGAAACTGCGGGTGATCATCAAC c.1080
V W E L L H T E A S Y I R K L R V I I N p.360
| 11 . . . . . | 12 . g.53433
| CTGTTCCTGTGCTGCCTCCTGAACCTGCAAGAGTCAGGGCTGCTGTGTGAG | GTGGAGGCG c.1140
| L F L C C L L N L Q E S G L L C E | V E A p.380
. . . . . . g.53493
GAGCGCCTGTTCAGCAACATCCCGGAGATCGCGCAGCTGCACCGCAGGCTGTGGGCTAGC c.1200
E R L F S N I P E I A Q L H R R L W A S p.400
. . . . . . g.53553
GTGATGGCGCCGGTGCTGGAGAAGGCGCGGCGCACGCGAGCGCTGCTACAGCCCGGGGAC c.1260
V M A P V L E K A R R T R A L L Q P G D p.420
. . | 13 . . . . g.54000
TTCCTCAAAGGCTTCAAGATG | TTCGGCTCGCTCTTCAAGCCCTACATCCGCTACTGCATG c.1320
F L K G F K M | F G S L F K P Y I R Y C M p.440
. . . . . . g.54060
GAGGAGGAGGGCTGCATGGAGTACATGCGCGGCCTGCTGCGCGACAACGACCTCTTCCGG c.1380
E E E G C M E Y M R G L L R D N D L F R p.460
. | 14 . . . . . g.54225
GCCTACATCACG | TGGGCGGAGAAGCACCCACAGTGCCAGAGGCTGAAGCTGAGCGACATG c.1440
A Y I T | W A E K H P Q C Q R L K L S D M p.480
. . . . . . g.54285
CTGGCCAAACCCCACCAGCGGCTCACCAAGTACCCGCTGCTGCTCAAGTCGGTGCTGAGG c.1500
L A K P H Q R L T K Y P L L L K S V L R p.500
. . . . | 15 . . g.54436
AAGACCGAGGAGCCGCGCGCCAAGGAGGCCGTCGTCGCCATG | ATCGGCTCCGTGGAGCGC c.1560
K T E E P R A K E A V V A M | I G S V E R p.520
. . . . . . g.54496
TTCATCCACCACGTGAACGCGTGCATGCGGCAGCGGCAGGAGCGGCAGCGGCTGGCGGCC c.1620
F I H H V N A C M R Q R Q E R Q R L A A p.540
. . . . . . g.54556
GTGGTGAGCCGCATCGACGCCTACGAGGTGGTGGAAAGCAGCAGCGACGAAGTGGACAAG c.1680
V V S R I D A Y E V V E S S S D E V D K p.560
| 16 . . . . . . g.54766
| CTCCTGAAGGAATTTCTGCACCTGGACTTGACAGCGCCCATCCCTGGCGCCTCCCCGGAG c.1740
| L L K E F L H L D L T A P I P G A S P E p.580
. . . . . . g.54826
GAGACGCGGCAGCTGCTGCTGGAGGGGAGCCTGAGGATGAAGGAGGGGAAGGACAGCAAG c.1800
E T R Q L L L E G S L R M K E G K D S K p.600
| 17 . . . . . . g.55445
| ATGGATGTGTACTGCTTCCTCTTCACGGATCTGCTGTTGGTGACCAAAGCAGTGAAGAAG c.1860
| M D V Y C F L F T D L L L V T K A V K K p.620
. . . . . . g.55505
GCAGAGAGGACCAGGGTCATCAGGCCACCCCTGCTCGTGGACAAGATTGTGTGCCGGGAG c.1920
A E R T R V I R P P L L V D K I V C R E p.640
. | 18 . . . . . g.55658
CTACGGGACCCTG | GGTCCTTCCTCCTTATCTACCTGAATGAGTTTCACAGTGCTGTAGGG c.1980
L R D P G | S F L L I Y L N E F H S A V G p.660
. . . . . . g.55718
GCCTACACGTTCCAGGCCAGTGGCCAGGCCTTGTGCCGTGGCTGGGTGGACACCATTTAC c.2040
A Y T F Q A S G Q A L C R G W V D T I Y p.680
| 19 . . . . . g.55871
AATGCCCAG | AACCAGCTGCAACAGCTGCGTGCACAGGAGCCCCCAGGCAGTCAGCAGCCC c.2100
N A Q | N Q L Q Q L R A Q E P P G S Q Q P p.700
. . . . . . g.55931
CTGCAGAGCCTGGAAGAGGAGGAGGATGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG c.2160
L Q S L E E E E D E Q E E E E E E E E E p.720
. . . . . . g.55991
GAGGAGGAAGGCGAGGACAGTGGCACTTCAGCTGCCAGCTCCCCTACCATCATGCGGAAA c.2220
E E E G E D S G T S A A S S P T I M R K p.740
. . | 20 . . . g.56506
AGCAGCGGCAGCCCCGACTCTCAGCACTG | TGCCTCAGATGGCTCCACGGAGACCCTGGCC c.2280
S S G S P D S Q H C | A S D G S T E T L A p.760
. . . . . . g.56566
ATGGTTGTGGTAGAGCCTGGGGACACGCTGTCCTCCCCCGAGTTCGACAGCGGTCCTTTC c.2340
M V V V E P G D T L S S P E F D S G P F p.780
. . . . . . g.56626
AGCTCCCAGTCTGATGAGACCTCTCTCAGCACCACTGCCTCATCTGCCACGCCCACCAGT c.2400
S S Q S D E T S L S T T A S S A T P T S p.800
. . . . . . g.56686
GAGCTGCTGCCCCTGGGTCCGGTGGACGGCCGCTCCTGCTCCATGGACTCTGCCTACGGC c.2460
E L L P L G P V D G R S C S M D S A Y G p.820
. . . . . . g.56746
ACCCTCTCCCCAACCTCCTTACAAGACTTTGTGGCCCCAGGCCCAATGGCAGAGCTAGTG c.2520
T L S P T S L Q D F V A P G P M A E L V p.840
. . . . . . g.56806
CCTCGGGCCCCAGAGTCCCCACGAGTTCCTTCCCCTCCACCCTCGCCCCGTCTCCGCCGC c.2580
P R A P E S P R V P S P P P S P R L R R p.860
. . . . . . g.56866
CGCACCCCTGTCCAGCTGTTGAGCTGCCCGCCCCACCTGCTCAAGTCTAAGTCCGAGGCC c.2640
R T P V Q L L S C P P H L L K S K S E A p.880
. . . . . . g.56926
AGCCTCCTCCAGCTGCTGGCAGGGGCTGGCACCCATGGGACACCCTCTGCCCCCAGCCGC c.2700
S L L Q L L A G A G T H G T P S A P S R p.900
. . . . . . g.56986
AGCCTGTCAGAGCTCTGCCTGGCTGTTCCAGCCCCAGGTATTAGGACTCAGGGCTCCCCT c.2760
S L S E L C L A V P A P G I R T Q G S P p.920
. . . . . . g.57046
CAGGAAGCTGGGCCCAGCTGGGATTGCCGAGGGGCCCCTAGCCCTGGCAGCGGTCCTGGG c.2820
Q E A G P S W D C R G A P S P G S G P G p.940
. . . . . . g.57106
CTAGTCGGCTGCCTGGCCGGGGAACCTGCAGGCTCCCACAGGAAGAGGTGTGGAGACCTG c.2880
L V G C L A G E P A G S H R K R C G D L p.960
. . . . . . g.57166
CCCTCGGGGGCCTCTCCCAGGGTCCAGCCTGAGCCCCCACCAGGGGTCTCTGCCCAGCAC c.2940
P S G A S P R V Q P E P P P G V S A Q H p.980
. . . . . . g.57226
AGGAAGCTGACCCTGGCCCAGCTCTACCGAATCAGGACCACCCTGCTGCTTAACTCCACG c.3000
R K L T L A Q L Y R I R T T L L L N S T p.1000
. | 21 . g.57538
CTCACTGCCTC | GGAGGTCTGA c.3021
L T A S | E V X p.1006
. . . . . . g.57598
gcagagggaggcccccaagagtgccattgaccaagagacagcagacagcctgcctcctgg c.*60
. . . . . . g.57658
ggcgtgccggcacctgcttcagctactgcctcctgtatgcatgagccggatgctgggcag c.*120
. . . . . . g.57718
gatccctgcctacgcccgggcccgatttgcgctttgccggactggatggagtggaggagg c.*180
. . . . . . g.57778
cccaggccacagtaccaccccacctgcccaggcagcccctcgtcacctactccccgaagt c.*240
. . . . . . g.57838
taccagctcagctcgagtcttcagggctgggctcctaggctgcccatcctacttctaccc c.*300
. . . . . . g.57898
tcactggcctccagtgggattcactcctgccctgcccccaccttcccagtcccacaggcc c.*360
. . . . . . g.57958
acccctggcttgggctgggttctgtgaagttacgtatttattgagcttttggttctttta c.*420
. . . . . . g.58018
taaagacttgtctagactccactgggaagagtcctttgctttggggcccagtgactcggg c.*480
. . . . . . g.58078
gcacttgagttcagggcggcctccttgtgttcctgtgctcctccacttgccacggatggg c.*540
. . . . . . g.58138
ccacggatggagcttgccatgggaagcactgggaagtaatggggtgtggggtgccaccag c.*600
. . . . . . g.58198
accaacacccccagacttccccaccttcagccaccatcagagcctctccccaggtgcccc c.*660
. . . . . . g.58258
ccggggattcagggctgaatctgcccagttcccacactcaggccagccctcttgggaagg c.*720
. . . . . . g.58318
tgggtcctccatgggggtcccttcaggaactttttttttttttttaatacagagtctcac c.*780
. . . . . . g.58378
tctgtcacctaggttggagtgcagtggtgtgatgtcggctcactgcaacctctgcctccc c.*840
. . . . . . g.58438
gggttcaaacgattctcctgccccagccactctagtagctggaactgcaggtgtgcacca c.*900
. . . . . . g.58498
ccacgccgggctagtttttgtattttaagtagagacggcatttcaccatattggtcaggc c.*960
. . . . . . g.58558
tggtctcgaactcctgaccccaagtgttccgcccgcctctgcctcccatagtgctagaat c.*1020
. . . . . . g.58618
tacaggcctgagctactgcgcttggccccttgcggtacttttggcccaacctcctccatg c.*1080
. . . . . . g.58678
gctggggacgcggaggccgagagagaagtcacttgccctggctctaccttgaagtggttc c.*1140
. . . . . . g.58738
tcagggttggggcgagagtcggggtggggaccgagatgcagctctatcctgtgcccctgg c.*1200
. . . . . . g.58798
tcgcagcaggcagcccagcgcttcgcgtgttctacttggcctgtccgctgccgcctaatg c.*1260
. . . . . . g.58858
agctcaggtctaggccgagcagagggggcacctggtcggactcggttgggctcgggcggc c.*1320
. . . . . . g.58918
cccgcctccccccgcccgccaggcgggcccttctcgacggcgcggggcgggccctgcggg c.*1380
. . . . . . g.58978
cgcggggctgaaggcggaaccacgacgggcagagagcacggagccgggaagcccctgggc c.*1440
. . . g.59009
gcccgtcggagggctatggagcagcggccgc c.*1471
(downstream sequence)
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