(used for variant description)
(last modified January 1, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000790.3 in the DDC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008742.1, covering DDC transcript NM_000790.3.
(upstream sequence)
. . g.9412
aactgtcactgtggagaggagagaga c.-61
. . . . | 02 . . g.26371
gaggacagagagcaagtcactcccggctgcct | ttttcacctctgacagagcccagacacc c.-1
. . . . . . g.26431
ATGAACGCAAGTGAATTCCGAAGGAGAGGGAAGGAGATGGTGGATTACATGGCCAACTAC c.60
M N A S E F R R R G K E M V D Y M A N Y p.20
. . . . . . g.26491
ATGGAAGGCATTGAGGGACGCCAGGTCTACCCTGACGTGGAGCCCGGGTACCTGCGGCCG c.120
M E G I E G R Q V Y P D V E P G Y L R P p.40
. . . . . . g.26551
CTGATCCCTGCCGCTGCCCCTCAGGAGCCAGACACGTTTGAGGACATCATCAACGACGTT c.180
L I P A A A P Q E P D T F E D I I N D V p.60
. . | 03 . . . . g.30467
GAGAAGATAATCATGCCTGGG | GTGACGCACTGGCACAGCCCCTACTTCTTCGCCTACTTC c.240
E K I I M P G | V T H W H S P Y F F A Y F p.80
. . . . . . g.30527
CCCACTGCCAGCTCGTACCCGGCCATGCTTGCGGACATGCTGTGCGGGGCCATTGGCTGC c.300
P T A S S Y P A M L A D M L C G A I G C p.100
. | 04 . . . . . g.32522
ATCGGCTTCTCCTGG | GCGGCAAGCCCAGCATGCACAGAGCTGGAGACTGTGATGATGGAC c.360
I G F S W | A A S P A C T E L E T V M M D p.120
. . . . . . g.32582
TGGCTCGGGAAGATGCTGGAACTACCAAAGGCATTTTTGAATGAGAAAGCTGGAGAAGGG c.420
W L G K M L E L P K A F L N E K A G E G p.140
. | 05 . . . . . g.41159
GGAGGAGTGATCCAG | GGAAGTGCCAGTGAAGCCACCCTGGTGGCCCTGCTGGCCGCTCGG c.480
G G V I Q | G S A S E A T L V A L L A A R p.160
. . . . . . g.41219
ACCAAAGTGATCCATCGGCTGCAGGCAGCGTCCCCAGAGCTCACACAGGCCGCTATCATG c.540
T K V I H R L Q A A S P E L T Q A A I M p.180
. . . | 06 . . . g.42206
GAGAAGCTGGTGGCTTACTCATCCGATCAG | GCACACTCCTCAGTGGAAAGAGCTGGGTTA c.600
E K L V A Y S S D Q | A H S S V E R A G L p.200
. . . . . . g.42266
ATTGGTGGAGTGAAATTAAAAGCCATCCCCTCAGATGGCAACTTCGCCATGCGTGCGTCT c.660
I G G V K L K A I P S D G N F A M R A S p.220
. . . . . | 07 . g.66403
GCCCTGCAGGAAGCCCTGGAGAGAGACAAAGCGGCTGGCCTGATTCCTTTCTTT | ATGGTT c.720
A L Q E A L E R D K A A G L I P F F | M V p.240
. . . . . . g.66463
GCCACCCTGGGGACCACAACATGCTGCTCCTTTGACAATCTCTTAGAAGTCGGTCCTATC c.780
A T L G T T T C C S F D N L L E V G P I p.260
| 08 . . . . . . g.71273
T | GCAACAAGGAAGACATATGGCTGCACGTTGATGCAGCCTACGCAGGCAGTGCATTCATC c.840
C | N K E D I W L H V D A A Y A G S A F I p.280
. . . | 09 . . . g.75063
TGCCCTGAGTTCCGGCACCTTCTGAATGGAGTGGAG | TTTGCAGATTCATTCAACTTTAAT c.900
C P E F R H L L N G V E | F A D S F N F N p.300
. . . . | 10 . . g.90609
CCCCACAAATGGCTATTGGTGAATTTTGACTGTTCTGCCATGTG | GGTGAAAAAGAGAACA c.960
P H K W L L V N F D C S A M W | V K K R T p.320
. . . . . . g.90669
GACTTAACGGGAGCCTTTAGACTGGACCCCACTTACCTGAAGCACAGCCATCAGGATTCA c.1020
D L T G A F R L D P T Y L K H S H Q D S p.340
| 11 . . | 12 . . . . g.100324
G | GGCTTATCACTGACTACCGG | CATTGGCAGATACCACTGGGCAGAAGATTTCGCTCTTTG c.1080
G | L I T D Y R | H W Q I P L G R R F R S L p.360
. . . . . . g.100384
AAAATGTGGTTTGTATTTAGGATGTATGGAGTCAAAGGACTGCAGGCTTATATCCGCAAG c.1140
K M W F V F R M Y G V K G L Q A Y I R K p.380
| 13 . . . . . . g.103201
| CATGTCCAGCTGTCCCATGAGTTTGAGTCACTGGTGCGCCAGGATCCCCGCTTTGAAATC c.1200
| H V Q L S H E F E S L V R Q D P R F E I p.400
. . . . | 14 . . g.107043
TGTGTGGAAGTCATTCTGGGGCTTGTCTGCTTTCGGCTAAAG | GGTTCCAACAAAGTGAAT c.1260
C V E V I L G L V C F R L K | G S N K V N p.420
. . . . . . g.107103
GAAGCTCTTCTGCAAAGAATAAACAGTGCCAAAAAAATCCACTTGGTTCCATGTCACCTC c.1320
E A L L Q R I N S A K K I H L V P C H L p.440
. . . . . . g.107163
AGGGACAAGTTTGTCCTGCGCTTTGCCATCTGTTCTCGCACGGTGGAATCTGCCCATGTG c.1380
R D K F V L R F A I C S R T V E S A H V p.460
. . . . . . g.107223
CAGCGGGCCTGGGAACACATCAAAGAGCTGGCGGCCGACGTGCTGCGAGCAGAGAGGGAG c.1440
Q R A W E H I K E L A A D V L R A E R E p.480
g.107226
TAG | c.1444
X p.480
. | 15 . . . . g.111655
gagtgaagccagctgcag | gaatcaaaaattgaagagagatatatctgaaaactggaataa c.*60
. . . . . . g.111715
gaagcaaataaatatcatcctgccttcatggaactcagctgtctgtggcttcccatgtct c.*120
. . . . . . g.111775
ttctccaaagttatccagagggttgtgattttgtctgcttagtatctcatcaacaaagaa c.*180
. . . . . . g.111835
atattatttgctaattaaaaagttaatcttcatggccatagcttttattcattagctgtg c.*240
. . . . . . g.111895
atttttgttgattaaaacattatagattttcatgttcttgcagtcatcagaagtggtagg c.*300
. . . . . . g.111955
aaagcctcactgatatattttccagggcaatcaatgttcacgcaacttgaaattatatct c.*360
. . . . . . g.112015
gtggtcttcaaattgtcttttgtcatgtggctaaatgcctaataaacaattcaagtgaaa c.*420
g.112021
tactaa c.*426
(downstream sequence)
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