(used for variant description)
(last modified September 29, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_004421.2 in the DVL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008048.2, covering DVL1 transcript NM_004421.2.
(upstream sequence)
. . . . g.5047
ccccgggccgggccctgagcgcgcgggctccgcgccgccgccgcgcc c.-1
. . . . . . g.5107
ATGGCGGAGACCAAGATTATCTACCACATGGACGAGGAGGAGACGCCGTACCTGGTCAAG c.60
M A E T K I I Y H M D E E E T P Y L V K p.20
. . . . . . g.5167
CTGCCCGTGGCCCCCGAGCGCGTCACGCTGGCCGACTTCAAGAACGTGCTCAGCAACCGG c.120
L P V A P E R V T L A D F K N V L S N R p.40
. . . . . | 02 . g.11364
CCCGTGCACGCCTACAAATTCTTCTTTAAGTCCATGGACCAGGACTTCGG | GGTGGTGAAG c.180
P V H A Y K F F F K S M D Q D F G | V V K p.60
. . . . . . g.11424
GAGGAGATCTTTGATGACAATGCCAAGCTTCCCTGCTTCAACGGCCGCGTGGTCTCCTGG c.240
E E I F D D N A K L P C F N G R V V S W p.80
| 03 . . . . . . g.11688
| CTGGTCCTGGCTGAGGGTGCTCACTCGGATGCGGGGTCCCAGGGCACGGACAGCCACACA c.300
| L V L A E G A H S D A G S Q G T D S H T p.100
. . . . . . g.11748
GACCTGCCCCCGCCTCTTGAGCGGACAGGCGGCATCGGGGACTCCCGGCCCCCCTCCTTC c.360
D L P P P L E R T G G I G D S R P P S F p.120
| 04 . . . . . . g.12014
CA | CCCAAATGTGGCCAGCAGCCGTGACGGGATGGACAACGAGACAGGCACGGAGTCCATG c.420
H | P N V A S S R D G M D N E T G T E S M p.140
. . . . | 05 . . g.12321
GTCAGTCACCGGCGGGAGCGTGCCCGACGCCGGAACCGCGAGGAGG | CCGCCCGGACCAAT c.480
V S H R R E R A R R R N R E E A | A R T N p.160
. . . . . . g.12381
GGGCACCCAAGGGGAGACCGACGGCGGGATGTGGGGCTGCCCCCAGACAGCGCGTCCACC c.540
G H P R G D R R R D V G L P P D S A S T p.180
. . . . . . g.12441
GCCCTCAGCAGCGAGCTTGAGTCCAGCAGCTTTGTGGACTCGGACGAGGATGGCAGCACG c.600
A L S S E L E S S S F V D S D E D G S T p.200
| 06 . . . . . . g.13664
AGCAG | GCTCAGCAGCTCCACGGAGCAGAGCACCTCATCCAGACTCATCCGGAAGCACAAA c.660
S R | L S S S T E Q S T S S R L I R K H K p.220
. . . | 07 . . g.13817
CGCCGGCGGAGGAAGCAGCGCCTTCGGCAGGCGGACCGG | GCCTCCTCCTTCAGCAGCATA c.720
R R R R K Q R L R Q A D R | A S S F S S I p.240
. . . . | 08 . g.13946
ACCGACTCCACCATGTCCCTCAACATCGTCACTGTCACGCTCAACATGG | AAAGACATCAC c.780
T D S T M S L N I V T V T L N M E | R H H p.260
. . . . . . g.14006
TTTCTGGGCATCAGCATCGTGGGGCAGAGCAACGACCGTGGAGACGGCGGCATCTACATT c.840
F L G I S I V G Q S N D R G D G G I Y I p.280
. . . . . . g.14066
GGCTCCATCATGAAGGGCGGGGCTGTGGCCGCTGACGGCCGCATCGAGCCCGGCGACATG c.900
G S I M K G G A V A A D G R I E P G D M p.300
| 09 . . . . . g.14351
TTGCTGCAG | GTGAATGACGTGAACTTTGAGAACATGAGCAATGACGATGCCGTGCGGGTG c.960
L L Q | V N D V N F E N M S N D D A V R V p.320
. . | 10 . . . . g.14497
CTGCGGGAGATCGTTTCCCAGACGGG | GCCCATCAGCCTCACTGTGGCCAAGTGCTGGGAC c.1020
L R E I V S Q T G | P I S L T V A K C W D p.340
. . . | 11 . . . g.14699
CCAACGCCCCGAAGCTACTTCACCGTCCCACGGG | CTGACCCGGTGCGGCCCATCGACCCC c.1080
P T P R S Y F T V P R A | D P V R P I D P p.360
. . . . . | 12 . g.15467
GCCGCCTGGCTGTCCCACACGGCGGCACTGACAGGAGCCCTGCCCCGCTACG | AGCTGGAA c.1140
A A W L S H T A A L T G A L P R Y E | L E p.380
. . . . . . g.15527
GAGGCGCCGCTGACGGTGAAGAGTGACATGAGCGCCGTCGTCCGGGTCATGCAGCTGCCA c.1200
E A P L T V K S D M S A V V R V M Q L P p.400
. . . . . . g.15587
GACTCGGGACTGGAGATCCGCGACCGCATGTGGCTCAAGATCACCATCGCCAATGCCGTC c.1260
D S G L E I R D R M W L K I T I A N A V p.420
| 13 . . . . . . g.15732
ATCG | GGGCGGACGTGGTGGACTGGCTGTACACACACGTGGAGGGCTTCAAGGAGCGGCGG c.1320
I G | A D V V D W L Y T H V E G F K E R R p.440
. . . . . . g.15792
GAGGCCCGGAAGTACGCCAGCAGCTTGCTGAAGCACGGCTTCCTGCGGCACACGGTCAAC c.1380
E A R K Y A S S L L K H G F L R H T V N p.460
. . . . . | 14 . g.15937
AAGATCACCTTCTCCGAGCAGTGCTACTACGTCTTCGGGGATCTCTGCAGCA | ATCTCGCC c.1440
K I T F S E Q C Y Y V F G D L C S N | L A p.480
. . . . . . g.15997
ACCCTGAACCTCAACAGTGGCTCCAGTGGGACTTCGGATCAGGACACGCTGGCCCCGCTG c.1500
T L N L N S G S S G T S D Q D T L A P L p.500
. . . . . . g.16057
CCCCACCCGGCTGCCCCCTGGCCTCTGGGTCAGGGCTACCCCTACCAGTACCCGGGACCC c.1560
P H P A A P W P L G Q G Y P Y Q Y P G P p.520
. . . . . . g.16117
CCACCCTGCTTCCCGCCTGCCTACCAGGACCCGGGCTTTAGCTATGGCAGCGGCAGCACC c.1620
P P C F P P A Y Q D P G F S Y G S G S T p.540
. | 15 . . . . g.17638
GGGAGTCAGCAGAGTGAAG | GGAGCAAAAGCAGTGGGTCCACCCGGAGCAGCCGCCGGGCC c.1680
G S Q Q S E G | S K S S G S T R S S R R A p.560
. . . . . . g.17698
CCGGGCCGTGAGAAGGAGCGTCGGGCGGCGGGAGCTGGGGGCAGTGGCAGTGAATCGGAT c.1740
P G R E K E R R A A G A G G S G S E S D p.580
. . . . . . g.17758
CACACGGCACCGAGTGGGGTGGGGAGCAGCTGGCGAGAGCGTCCGGCCGGCCAGCTCAGC c.1800
H T A P S G V G S S W R E R P A G Q L S p.600
. . . . . . g.17818
CGTGGCAGCAGCCCACGCAGTCAGGCCTCGGCTACCGCCCCGGGGCTCCCCCCGCCCCAC c.1860
R G S S P R S Q A S A T A P G L P P P H p.620
. . . . . . g.17878
CCCACGACCAAGGCCTATACAGTGGTGGGGGGGCCACCCGGGGGACCCCCTGTCCGGGAG c.1920
P T T K A Y T V V G G P P G G P P V R E p.640
. . . . . . g.17938
CTGGCTGCCGTCCCCCCGGAATTGACAGGCAGCCGCCAGTCCTTCCAGAAGGCTATGGGG c.1980
L A A V P P E L T G S R Q S F Q K A M G p.660
. . . g.17971
AACCCCTGCGAGTTCTTCGTGGACATCATGTGA c.2013
N P C E F F V D I M X p.670
. . . . . . g.18031
ctcgtggcgcatgccccagccctgcctgaggtggggagctggcggtcctgccgcatgcag c.*60
. . . . . . g.18091
agctcgcgtgggcttgccttcgtgggggccaggacgggaggcagggtggggggcaggctg c.*120
. . . . . . g.18151
gaccaccaccatctgccctggcagcctggctgctccagctcctgacagcacctgtgtctg c.*180
. . . . . . g.18211
agcagccgtgttgggggcgctccctctctgcccctcagcgagagcctcggacctcccaac c.*240
. . . . . . g.18271
cccttgtgtctggtggggatccctcctgggatgaggaagaccccctcgggctctcggctg c.*300
. . . . . . g.18331
acccccacctcctgcacagctgtgcccaggcccccagggtggtccatgcggggcaacccc c.*360
. . . . . . g.18391
ctgcggtgcacaggccccctgtctggagtagggatctaatttatttatttattgcctggc c.*420
. . . . . . g.18451
cggtgactcgggggaggaggcgaccctgtcatctgtcccacctgctgctgccccttggag c.*480
. . . . . . g.18511
cagcctgcaccttctctcctcccatccggcaacagtctgaaagtacgtggaggacgggac c.*540
. . . . . . g.18571
cggaagacgagagagggctggacatcctgcccaccgtgtcccagccagggcagggaggga c.*600
. . . . . . g.18631
ccatggcccgcagggtcaaggggccccgatgtgcacagctgccacagggagggaggtctt c.*660
. . . . . . g.18691
ggggagatgggcagtcaggtggcccgtccttggtgagtgcacacactgcgcgcacacatc c.*720
. . . . . . g.18751
gcggccttcctggcttctctggcccccacgtgtctgtgctgtagatactgtatcaaagtc c.*780
. . . . . . g.18811
ccagcgtttagatggttaacatagagctgcttctgtgtaaatgctgcttattttaaacac c.*840
. . g.18835
taaaaagcgtttaattttatggga c.*864
(downstream sequence)
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