(used for variant description)
(last modified March 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_005216.4 in the DDOST gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032064.1, covering DDOST transcript NM_005216.4.
(upstream sequence)
. . g.5023
aatccacctcccaccagggcact c.-121
. . . . . . g.5083
tccggcggcgctctccgcgccttatcgccaaagctgcggctctggacgcccagccgcggc c.-61
. . . . . . g.5143
gtatcccgatcacttccgggtagtgctccacgggcacgagccgcgattgggctaccgtag c.-1
. . . . . . g.5203
ATGGGGTACTTCCGGTGTGCAGGTGCTGGGTCCTTCGGCAGGAGGAGGAAGATGGAGCCC c.60
M G Y F R C A G A G S F G R R R K M E P p.20
. . . . . . g.5263
AGCACCGCGGCCCGGGCTTGGGCCCTCTTTTGGTTGCTGCTGCCCTTGCTTGGCGCGGTT c.120
S T A A R A W A L F W L L L P L L G A V p.40
. . . . . . g.5323
TGCGCCAGCGGACCCCGCACCTTAGTGCTGCTGGACAACCTCAACGTGCGGGAGACTCAT c.180
C A S G P R T L V L L D N L N V R E T H p.60
. . | 02 . . . . g.5588
TCGCTTTTCTTCCGGAGCCTGAAGG | ACCGGGGCTTTGAGCTCACATTCAAGACCGCTGAT c.240
S L F F R S L K D | R G F E L T F K T A D p.80
. . . . . . g.5648
GACCCCAGCCTGTCTCTCATAAAGTATGGGGAATTCCTCTATGACAATCTCATCATTTTC c.300
D P S L S L I K Y G E F L Y D N L I I F p.100
. | 03 . . . . . g.10401
TCCCCTTCGGTAGAAG | ATTTTGGAGGCAACATCAACGTGGAGACCATCAGTGCCTTTATT c.360
S P S V E D | F G G N I N V E T I S A F I p.120
. . . . | 04 . . g.10782
GACGGCGGAGGCAGTGTGCTGGTAGCTGCCAGCTCCGACATTG | GTGACCCTCTTCGAGAG c.420
D G G G S V L V A A S S D I G | D P L R E p.140
. . . . . . g.10842
CTGGGCAGTGAGTGCGGGATTGAGTTTGACGAGGAGAAAACGGCTGTCATTGACCATCAC c.480
L G S E C G I E F D E E K T A V I D H H p.160
. . | 05. . . . g.11043
AACTATGACATCTCAGACCTTGGCCAG | CATACGCTCATCGTGGCTGACACTGAGAACCTG c.540
N Y D I S D L G Q | H T L I V A D T E N L p.180
. . . . . . g.11103
CTGAAGGCCCCAACCATCGTTGGGAAATCATCTCTAAATCCCATCCTCTTTCGAGGTGTT c.600
L K A P T I V G K S S L N P I L F R G V p.200
| 06 . . . . . . g.11895
GG | GATGGTGGCCGATCCTGATAACCCTTTGGTGCTGGACATCCTGACGGGCTCTTCCACC c.660
G | M V A D P D N P L V L D I L T G S S T p.220
. . . | 07 . . . g.12197
TCTTACTCCTTCTTCCCGGACAAGCCTATCACCCAG | TATCCACATGCGGTGGGGAAGAAC c.720
S Y S F F P D K P I T Q | Y P H A V G K N p.240
. . . . . . g.12257
ACCCTCCTCATTGCTGGGCTCCAGGCCAGGAACAATGCCCGCGTCATCTTCAGCGGCTCC c.780
T L L I A G L Q A R N N A R V I F S G S p.260
. . . . . . g.12317
CTCGACTTCTTCAGCGACTCCTTCTTCAACTCAGCAGTGCAGAAGGCGGCGCCCGGCTCC c.840
L D F F S D S F F N S A V Q K A A P G S p.280
| 08 . . . . . . g.12825
CAGAG | GTATTCCCAGACAGGCAACTATGAACTAGCTGTGGCCCTCTCCCGCTGGGTGTTC c.900
Q R | Y S Q T G N Y E L A V A L S R W V F p.300
. . . . . . g.12885
AAGGAGGAGGGTGTCCTCCGTGTGGGGCCTGTGTCCCATCATCGGGTGGGCGAGACAGCC c.960
K E E G V L R V G P V S H H R V G E T A p.320
. . . | 09 . . . g.13600
CCACCCAATGCCTACACTGTCACTGACCTAGTG | GAGTATAGCATCGTGATCCAGCAGCTC c.1020
P P N A Y T V T D L V | E Y S I V I Q Q L p.340
. . . . . . g.13660
TCAAATGGCAAATGGGTCCCCTTTGATGGCGATGACATTCAGCTGGAGTTTGTCCGCATT c.1080
S N G K W V P F D G D D I Q L E F V R I p.360
. . . | 10 . . . g.13843
GATCCTTTTGTGAGGACCTTCCTGAAGAAGAAAG | GTGGCAAATACAGTGTTCAGTTCAAG c.1140
D P F V R T F L K K K G | G K Y S V Q F K p.380
. . . . . . g.13903
TTGCCCGACGTGTATGGTGTATTCCAGTTTAAAGTGGATTACAACCGGCTAGGCTACACA c.1200
L P D V Y G V F Q F K V D Y N R L G Y T p.400
. . | 11 . . . . g.14055
CACCTGTACTCTTCCACTCAG | GTATCCGTGCGGCCACTCCAGCACACGCAGTATGAGCGC c.1260
H L Y S S T Q | V S V R P L Q H T Q Y E R p.420
. . . . . . g.14115
TTCATCCCCTCGGCCTACCCCTACTACGCCAGCGCCTTCTCCATGATGCTGGGGCTCTTC c.1320
F I P S A Y P Y Y A S A F S M M L G L F p.440
. . . . . g.14166
ATCTTCAGCATCGTCTTCTTGCACATGAAGGAGAAGGAGAAGTCCGACTGA c.1371
I F S I V F L H M K E K E K S D X p.456
. . . . . . g.14226
ggggctagagccctctccgcacagcgtggagacggggcaaggaggggggttattaggatt c.*60
. . . . . . g.14286
ggtggttttgttttgctttgtttaaagccgtgggaaaatggcacaactttacctctgtgg c.*120
. . . . . . g.14346
gagatgcaacactgagagccaaggggtgggagttgggataatttttatataaaagaagtt c.*180
. . . . . . g.14406
tttccactttgaattgctaaaagtggcatttttcctatgtgcagtcactcctctcatttc c.*240
. . . . . . g.14466
taaaatagggacgtggccaggcacggtggctcatgcctgtaatcccagcactttgggagg c.*300
. . . . . . g.14526
ccgaggcaggcggctcacgaggtcaggagatcgagactatcctggctaacacggtaaaac c.*360
. . . . . . g.14586
cctgtctctactaaaagtacaaaaaattagctgggcgtggtggtgggcacctgtagtccc c.*420
. . . . . . g.14646
agctactcgggaggctgaggcaggagaaaggcatgaatccaagaggcagagcttgcagtg c.*480
. . . . . . g.14706
agctgagatcacgccattgcactccagcctgggcaacagtgttaagactctgtctcaaat c.*540
. . . . . . g.14766
ataaataaataaataaataaataaataaataaataaaaataaagcgagatgttgccctca c.*600
. g.14778
aacttcacctgg c.*612
(downstream sequence)
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