(used for variant description)
(last modified April 1, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_004423.3 in the DVL3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering DVL3 transcript NM_004423.3.
(upstream sequence)
. . g.5020
gaacaagggagctggcgccg c.-121
. . . . . . g.5080
ccagcagccgccgagctgggttgagccgctgggccgcgccgcgcgccgccgccgtctggg c.-61
. . . . . . g.5140
aggctcggcccggccgcccgagcaggccgcgcgcgggccgccgggcccgaggccagagcc c.-1
. . . . . . g.5200
ATGGGCGAGACCAAGATCATCTACCACTTGGATGGGCAGGAGACGCCGTACCTTGTGAAG c.60
M G E T K I I Y H L D G Q E T P Y L V K p.20
. . . . . . g.5260
CTGCCCCTGCCCGCCGAGCGCGTCACCTTGGCGGACTTTAAGGGCGTTTTGCAGCGACCC c.120
L P L P A E R V T L A D F K G V L Q R P p.40
. . . . | 02 . . g.13180
AGCTATAAGTTCTTCTTCAAGTCTATGGACGACGATTTCGG | AGTGGTGAAGGAGGAGATC c.180
S Y K F F F K S M D D D F G | V V K E E I p.60
. . . . . | 03 . g.13780
TCGGATGACAATGCCAAGCTACCATGCTTCAATGGCCGGGTGGTGTCCTGG | CTGGTGTCA c.240
S D D N A K L P C F N G R V V S W | L V S p.80
. . . . . . g.13840
GCTGAGGGCTCACACCCAGACCCAGCCCCCTTCTGTGCTGATAACCCATCGGAGCTGCCA c.300
A E G S H P D P A P F C A D N P S E L P p.100
. . . . . | 04 . g.14003
CCACCTATGGAGCGCACGGGAGGCATCGGGGACTCCCGACCCCCATCCTTCCA | CCCTCAT c.360
P P M E R T G G I G D S R P P S F H | P H p.120
. . . . . . g.14063
GCTGGTGGGGGCAGCCAGGAGAACCTGGACAATGACACAGAGACGGACTCTTTGGTGTCT c.420
A G G G S Q E N L D N D T E T D S L V S p.140
. . . . | 05 . . g.14317
GCCCAGCGAGAGCGGCCACGCCGGAGGGATGGCCCAGAGCATG | CAACCCGGCTAAATGGA c.480
A Q R E R P R R R D G P E H A | T R L N G p.160
. . . . . . g.14377
ACTGCGAAGGGGGAACGGCGGCGAGAACCAGGGGGTTATGATAGCTCATCCACCCTTATG c.540
T A K G E R R R E P G G Y D S S S T L M p.180
. . . . . | 06 g.14618
AGCAGTGAGCTGGAGACCACCAGCTTCTTTGACTCAGATGAGGATGACTCCACCAGCAG | G c.600
S S E L E T T S F F D S D E D D S T S R | p.200
. . . . . . g.14678
TTCAGCAGCTCCACAGAACAGAGCAGTGCCTCACGCCTGATGAGAAGACACAAGCGGCGG c.660
F S S S T E Q S S A S R L M R R H K R R p.220
. . . | 07 . . . g.14953
CGGCGGAAGCAGAAGGTTTCTCGGATTGAGCGG | TCCTCGTCCTTCAGCAGCATCACGGAC c.720
R R K Q K V S R I E R | S S S F S S I T D p.240
. . . . | 08 . . g.15647
TCCACCATGTCACTCAACATCATCACGGTCACTCTCAACATGG | AAAAATATAACTTCTTG c.780
S T M S L N I I T V T L N M E | K Y N F L p.260
. . . . . . g.15707
GGCATCTCCATTGTGGGCCAAAGCAACGAGCGTGGTGACGGCGGCATCTACATTGGCTCT c.840
G I S I V G Q S N E R G D G G I Y I G S p.280
. . . . . . g.15767
ATCATGAAGGGTGGGGCCGTGGCTGCTGATGGACGCATCGAGCCAGGAGATATGTTGTTA c.900
I M K G G A V A A D G R I E P G D M L L p.300
| 09 . . . . . . g.16007
CAG | GTAAACGAGATCAACTTTGAGAACATGAGTAATGACGATGCAGTCCGGGTACTGCGG c.960
Q | V N E I N F E N M S N D D A V R V L R p.320
. . | 10 . . . . g.16150
GAGATTGTGCACAAACCGGG | GCCCATCACCCTGACTGTAGCCAAGTGCTGGGACCCAAGT c.1020
E I V H K P G | P I T L T V A K C W D P S p.340
. . | 11 . . . g.16362
CCACGTGGTTGCTTCACATTGCCCAGGA | GCGAGCCCATCCGGCCCATTGACCCTGCGGCC c.1080
P R G C F T L P R S | E P I R P I D P A A p.360
. . . . . . g.16422
TGGGTCTCCCACACTGCAGCCATGACCGGCACCTTCCCTGCATACGGCATGAGCCCCTCC c.1140
W V S H T A A M T G T F P A Y G M S P S p.380
. . . . . | 12 g.17086
CTGAGCACCATCACCTCCACCAGCTCCTCCATCACCAGTTCCATCCCTGACACAGAGC | GC c.1200
L S T I T S T S S S I T S S I P D T E R | p.400
. . . . . . g.17146
CTAGACGACTTCCACTTGTCCATCCACAGTGACATGGCTGCCATCGTAAAAGCCATGGCC c.1260
L D D F H L S I H S D M A A I V K A M A p.420
. . . . . . g.17206
TCCCCTGAATCAGGGTTGGAGGTCCGTGACCGCATGTGGCTCAAGATTACCATCCCTAAT c.1320
S P E S G L E V R D R M W L K I T I P N p.440
. | 13 . . . . . g.17452
GCTTTCATCG | GCTCAGATGTGGTGGACTGGCTGTACCACAATGTGGAAGGCTTCACGGAC c.1380
A F I G | S D V V D W L Y H N V E G F T D p.460
. . . . . . g.17512
CGGAGGGAGGCCCGCAAGTATGCCAGCAACCTGCTGAAAGCTGGCTTCATCCGCCATACC c.1440
R R E A R K Y A S N L L K A G F I R H T p.480
. . . . . | 14 g.19512
GTCAACAAGATCACCTTCTCCGAGCAGTGCTACTACATCTTCGGTGACCTCTGCGGCA | AC c.1500
V N K I T F S E Q C Y Y I F G D L C G N | p.500
. . . . . . g.19572
ATGGCCAACCTGTCTCTCCACGATCACGATGGCTCCAGTGGCGCCTCTGACCAGGACACA c.1560
M A N L S L H D H D G S S G A S D Q D T p.520
. . . . . . g.19632
CTGGCCCCTTTGCCGCACCCGGGGGCCGCCCCTTGGCCCATGGCTTTCCCGTACCAGTAC c.1620
L A P L P H P G A A P W P M A F P Y Q Y p.540
. . . . . . g.19692
CCGCCACCCCCGCACCCATACAACCCGCACCCGGGCTTCCCGGAGCTGGGCTACAGCTAC c.1680
P P P P H P Y N P H P G F P E L G Y S Y p.560
. . . | 15 . . . g.19849
GGCGGGGGCAGCGCCAGCAGTCAGCACAGCGAAG | GCAGTCGGAGCAGTGGCTCCAACCGT c.1740
G G G S A S S Q H S E G | S R S S G S N R p.580
. . . . . . g.19909
AGCGGCAGCGATCGGAGGAAGGAGAAGGACCCGAAGGCCGGGGACTCCAAGTCCGGGGGC c.1800
S G S D R R K E K D P K A G D S K S G G p.600
. . . . . . g.19969
AGCGGCAGCGAATCGGACCACACCACACGCAGCAGCCTGCGGGGGCCGCGGGAGCGGGCG c.1860
S G S E S D H T T R S S L R G P R E R A p.620
. . . . . . g.20029
CCCAGCGAGCGCTCAGGGCCGGCGGCCAGCGAGCACAGCCACCGCAGCCACCATTCCCTG c.1920
P S E R S G P A A S E H S H R S H H S L p.640
. . . . . . g.20089
GCCAGCAGCCTTCGCAGCCACCACACACACCCGAGCTACGGTCCTCCCGGAGTGCCCCCT c.1980
A S S L R S H H T H P S Y G P P G V P P p.660
. . . . . . g.20149
CTCTACGGCCCCCCCATGCTGATGATGCCCCCGCCGCCCGCGGCCATGGGGCCCCCAGGA c.2040
L Y G P P M L M M P P P P A A M G P P G p.680
. . . . . . g.20209
GCCCCTCCGGGCCGCGACCTGGCCTCAGTGCCCCCGGAACTGACCGCCAGCAGACAGTCC c.2100
A P P G R D L A S V P P E L T A S R Q S p.700
. . . . . g.20260
TTCCGCATGGCCATGGGAAACCCCAGTGAGTTCTTTGTGGATGTGATGTGA c.2151
F R M A M G N P S E F F V D V M X p.716
. . . . . . g.20320
gcagggcccctcccccagctccattccgctcccaccccagccggctgcgttcctctctcc c.*60
. . . . . . g.20380
atccgtccgtcttttttactttgtctggtacctgaaagggaaataaaaggaactaaatcc c.*120
. . . . . . g.20440
aggtgcgctaactgctcgcagggtgctgcgagggtggggtgcacctaccgattggctctg c.*180
. . . . . . g.20500
cagccccctaacctgcctctggccccagttcgtttcctctgcccactaatccctgcgcag c.*240
. . . . . . g.20560
gacttcccaggaccccttttgtctctgggaccagacttgttggtgctaccccttactccc c.*300
. . . . . . g.20620
ctctgcaacccccattttgggagttgaccccagcaatgaccttggtggcacgctcactcc c.*360
. . . . . . g.20680
ctcattctctcgtttcccctttagctccctttcaccatttattcagctacatcatccctc c.*420
. . . . . . g.20740
tattaaccccaccccatcaggcacgtgtgcaaacctcttgactttaccccacattactga c.*480
. . . . . . g.20800
aaccaaaatatatttgcttcatctgcccctactaaccatccccctgcctgctgcctcagt c.*540
. . . . . . g.20860
cctgcaacctaaagctgtagtcgcctccaatagccatccatgccatccctgcctgtgcct c.*600
. . . . . . g.20920
agatcagaggcccagagggccccctcagttgcctgagcagctggtggcttccagggagca c.*660
. . . . . . g.20980
tctctgctctacccctgccccatgcctgccctgcgtgctggttccttcagacccctaacc c.*720
. . . . . . g.21040
ctactaaccagcaggctcatctcacctccaggcctgaaacatttcttttctttctttttt c.*780
. . . . . . g.21100
cctcccccaatttaccctgggcctggagcagccaagaatttcgggctgtttgactttctg c.*840
. . . . . . g.21160
tgagcccccagcgaggggaggcccagcctccgaggagaccaggaaccctgcttcagcagc c.*900
. . . . . . g.21220
ccctcagggcttcccaaggatgtccagcccccacacccacacgttaacataatgagtcac c.*960
. . . . . . g.21280
taggcttctggggagggcccaacttcacccatgcatgagagactctcctcctttccagag c.*1020
. . . . . . g.21340
agaatcggatcgcaccacgtgtggcagcctgcggcggggggaggggggcctctttagctc c.*1080
. . . . . . g.21400
tctttatctttctctctcactcatgtatgcatacatgcacagagatgcatacacaggtgc c.*1140
. . . . . . g.21460
ctatgcaagttcatttaagcctcagggctggtccctgcccaaagggctggaccctcctaa c.*1200
. . . . . . g.21520
tcctctcctaggttgtggggctggtcccctgacacccttctccccttcctggtagacctt c.*1260
. . . . . . g.21580
aaacctcgcacacatgtccccagcattttctcacctggataaagcccataagctgggtct c.*1320
. . . . . . g.21640
caggctgggctcagcaaaggactcgccttgcaaccgacaggccattcccacccccacaca c.*1380
. . . . . . g.21700
caacctcccctgttttcacattcaccatggcatcccagagcaaggacacaggagcccaca c.*1440
. . . . . . g.21760
ggccagttgaggttgggcaaggagacttccaggacttccagacagagtaccaggttttat c.*1500
. . . . . . g.21820
ttttcaccttattctctactttaaacaaatcataactttctctttaagcctctgctataa c.*1560
. . . . . . g.21880
attctcctggctctcctgggcttccatattttgggggctggggtgtcaaaagtgagatga c.*1620
. . . . . . g.21940
agttcttagctccaggttttggggtaaaccaaggtaggaacattttggcatttatttcaa c.*1680
. . . . . . g.22000
ttaacaatacttccttggacgggtgcggtggctcacgtctgtaatcccagcactttggga c.*1740
. . . . . . g.22060
ggctgagacaggtggatcacttgaggtcgggagttcgagaccagcctggccaacatagca c.*1800
. . . . . . g.22120
aaaccctgtctctactaaaaatacaaaaattagatgggtgttttggcacctgcctgtaat c.*1860
. . . . . . g.22180
ctcagctactcaggaggctgaggcacaagaatcgcttgaatccaggaagcaagcggaggt c.*1920
. . . . . . g.22240
tgcagtgagttgagatcgcactccagcctgggtgacagagtgagattctgtctcaaaagc c.*1980
. . . . . . g.22300
aaactaacaaagaaaaacaatacttcctggggttttggtgtgcagagggctttgttggaa c.*2040
. . . . . . g.22360
gtgtgactcaatcttgcctgccttctgggagctctagaattgttcccaacccagtccatg c.*2100
. . . . . . g.22420
gcttctagccaccactacagggctgtttcatgtacttctctctctgactctgtcttgtcc c.*2160
. . . . . . g.22480
gactctcttgagaatttctcaacgattgctcatgcctgtcagtatcagtgcttccatcgt c.*2220
. . . . . . g.22540
tccatctttgattcacttctctttcctttctatttactcccaaaatggagtcattcatcc c.*2280
. . . . . . g.22600
tgatgtcctcaattgctgctgatatgctggtgattcccaaatacatagctccaaccccca c.*2340
. . . . . . g.22660
acttcccccagactttagatctgtattggtattacctactggacatctctatggacagtt c.*2400
. . . . . . g.22720
ccgtatagactcaactcatctgcccaaccaagtatgttcctcctgaattcctctcctggt c.*2460
. . . . . . g.22780
tacttcatcacaatctacataggctcaccagctagaaacatttatgagcttacattcctt c.*2520
. . . . . . g.22840
cttcccatatcttatcagcatatcatatccatttcactccaacactctgtcttgaatttg c.*2580
. . . . . . g.22900
gccctccctctcccctctctactttaattcattggagcatgggatttggagttaggtggt c.*2640
. . . . . . g.22960
tttgggtttgaattccagctctactatttttggttgtgtgatagagttatttaacctctc c.*2700
. . . . . . g.23020
tgagcctcagttccctcgtatgtaaaatgatgataataatacctacctcacagggttgtt c.*2760
. g.23031
gtgaggattta c.*2771
(downstream sequence)
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