(used for variant description)
(last modified November 24, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_013245.2 in the VPS4A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering VPS4A transcript NM_013245.2.
(upstream sequence)
g.5008
cctgcccg c.-121
. . . . . . g.5068
cgcaccgcgctcagcgcccaccgccgggcttcccgcgccggacccagtacctcggctccc c.-61
. . . . . . g.5128
cggggccggaccgaggccgcaagcagcgccgcggggtgtggggcggacccaggagatgaa c.-1
. . | 02 . . . . g.9663
ATGACAACGTCAACCCTCCAG | AAAGCCATTGATCTGGTGACGAAAGCCACAGAGGAGGAC c.60
M T T S T L Q | K A I D L V T K A T E E D p.20
. . . . . . g.9723
AAAGCCAAGAACTACGAGGAGGCGCTGCGGCTGTACCAGCATGCGGTGGAGTACTTCCTC c.120
K A K N Y E E A L R L Y Q H A V E Y F L p.40
. | 03 . . . . . g.9888
CACGCTATCAAGT | ATGAGGCCCACAGCGACAAGGCCAAGGAGAGCATTCGAGCCAAGTGC c.180
H A I K Y | E A H S D K A K E S I R A K C p.60
. . . . . . g.9948
GTGCAGTACCTAGACCGGGCCGAGAAGCTGAAGGATTATTTACGAAGCAAAGAGAAACAC c.240
V Q Y L D R A E K L K D Y L R S K E K H p.80
. . . . | 04 . . g.12285
GGCAAGAAGCCAGTCAAAGAGAACCAGAGTGAGGGCAAGGG | CAGTGACAGTGACAGTGAA c.300
G K K P V K E N Q S E G K G | S D S D S E p.100
. . . . | 05 . . g.12456
GGGGATAATCCGGAGAAAAAGAAACTGCAAGAACAGCTGATGG | GTGCCGTCGTGATGGAG c.360
G D N P E K K K L Q E Q L M G | A V V M E p.120
. . . . . . g.12516
AAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAA c.420
K P N I R W N D V A G L E G A K E A L K p.140
. . . . | 06 . . g.13020
GAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAG | GCAAGCGCACCCCCTGG c.480
E A V I L P I K F P H L F T G | K R T P W p.160
. . . . . . g.13080
CGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTG c.540
R G I L L F G P P G T G K S Y L A K A V p.180
. . . . . . g.13140
GCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAG c.600
A T E A N N S T F F S V S S S D L M S K p.200
. . | 07 . . . . g.13797
TGGCTGGGGGAGAGTGAAAA | GCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAG c.660
W L G E S E K | L V K N L F E L A R Q H K p.220
. . . . . . g.13857
CCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAG c.720
P S I I F I D E V D S L C G S R N E N E p.240
. . . . | 08 . g.14315
AGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGG | GGGTGGGGAAT c.780
S E A A R R I K T E F L V Q M Q G | V G N p.260
. . . . . . g.14375
AACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCC c.840
N N D G T L V L G A T N I P W V L D S A p.280
. | 09 . . . . . g.14716
ATCAGGAGGAG | GTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCC c.900
I R R R | F E K R I Y I P L P E E A A R A p.300
. . . . . . g.14776
CAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCAC c.960
Q M F R L H L G S T P H N L T D A N I H p.320
. . . . . . g.14836
GAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGAC c.1020
E L A R K T E G Y S G A D I S I I V R D p.340
. . . . . | 10 . g.16185
TCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAG | GTCTGTGGC c.1080
S L M Q P V R K V Q S A T H F K K | V C G p.360
. . . . . . g.16245
CCCTCTCGCACCAACCCCAGCATGATGATTGATGACCTCCTGACTCCATGCTCACCAGGG c.1140
P S R T N P S M M I D D L L T P C S P G p.380
. . . . . . g.16305
GACCCAGGAGCCATGGAGATGACTTGGATGGATGTCCCTGGGGACAAACTCTTAGAGCCT c.1200
D P G A M E M T W M D V P G D K L L E P p.400
. | 11 . . . . . g.17872
GTGGTTTGCATG | TCGGACATGCTGCGGTCTCTGGCCACCACCCGGCCCACGGTGAATGCA c.1260
V V C M | S D M L R S L A T T R P T V N A p.420
. . . . . g.17926
GACGACCTCCTGAAAGTGAAGAAATTCTCAGAGGACTTTGGGCAAGAGAGTTAA c.1314
D D L L K V K K F S E D F G Q E S X p.437
. . . . . . g.17986
aagctgcttcacttgggcaatggtgaaggtgggaggttgattggggcaaatccaggcact c.*60
. . . . . . g.18046
ccccatgtcaacagccagacagggctccagggcttgtcccagtcaatacagagttccctc c.*120
. . . . . . g.18106
tgctgtctggccgtctgccagggagccagaaggaagggccttgcagccacagagacactc c.*180
. . . . . . g.18166
cactgccctggggcacacagtggacactgctcttcctacttcctcctctcctggatgctc c.*240
. . . . . . g.18226
atcagctccttctgcctcccccccttttttttccatcttttgttcccctaaattaatgct c.*300
. . . . . . g.18286
gcttggattttcatcttatttataaagataaaatcacctggaagtgtcaaggagtggggc c.*360
. . . . . . g.18346
ggggtggcgggggagaagcagccgtgctgccaggtcacccagacctccagacagccggct c.*420
. . . . . . g.18406
agccccactgcccgttccttttacgcccaagttttgctccttgagagcagattggctgat c.*480
. . . . . . g.18466
gcccctgcaaccccagcccaagctctgcctcaaagaccgagtgacataagccattcccac c.*540
. . . . . . g.18526
cctcctaggttcacatccagggctgtgtcttccttgggggaggagatggtgtcgtttaga c.*600
. . . . . . g.18586
tcagggtaaggcagtcaggcgggtgttcaccactgccttttcttcctctgagcgtgagaa c.*660
. . . . . . g.18646
cactgaacccagccactgcccctgggtccctgtcctggaaatggtctaataaatcctttt c.*720
. g.18660
cccttcttgagcta c.*734
(downstream sequence)
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