(used for variant description)
(last modified November 13, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001170700.2 in the DTHD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032962.1, covering DTHD1 transcript NM_001170700.2.
(upstream sequence)
. . . . . g.7465
ggggagcactgctgcacttctaaagaaagaagaaaaggagatttgtaatttatgcggc c.-1
. . . . . . g.7525
ATGCATGATGAATGTACTCCACAGCAGACAATGTCCTCCATTCAAGATACCAAAGCAGCA c.60
M H D E C T P Q Q T M S S I Q D T K A A p.20
. . . . . . g.7585
GACATTGCTGCAAGAGGGGAACTAAATGTCATAGAAACAGCTACTGTTTCTCCCACAAAT c.120
D I A A R G E L N V I E T A T V S P T N p.40
. . . . . . g.7645
GGAGAGGAAAGTCATTACACAAACCAGGTCCAGTTAGAAAAAAATAAAACACATATGAGT c.180
G E E S H Y T N Q V Q L E K N K T H M S p.60
. . . . . . g.7705
TCAGCATTAGTGGAAAAAGAAAACAATACATCACTGAATGGACGTGTACTGGGGCAAGAA c.240
S A L V E K E N N T S L N G R V L G Q E p.80
. . . . . . g.7765
GAGTCACAGAATAAAATGTTCCCAGATAATGCAGAAAATGAAGATGATAAACAAATAGAA c.300
E S Q N K M F P D N A E N E D D K Q I E p.100
. . . . . . g.7825
CACATGACTGTTGAGAACATAAATGGCAACAGGGAAGAGACTCATGGCATAATTCAGACA c.360
H M T V E N I N G N R E E T H G I I Q T p.120
. . . . . . g.7885
ACAGAGACAGAAATTCAAGAGACTTCAGAAAGCCCAAGAGAAGAGATGACCACATCCTCA c.420
T E T E I Q E T S E S P R E E M T T S S p.140
. . . . . . g.7945
ATAATATGTGATATCTCCAAGAAATATATAAATAGTACTCTTCCCAATGATTCAGAGAAT c.480
I I C D I S K K Y I N S T L P N D S E N p.160
. . . | 02 . . . g.13786
ATAAAGCACAAGAATAACATAATGGAAAAGGA | GTATCTTGATGTGCTGAGTGATGTTACT c.540
I K H K N N I M E K E | Y L D V L S D V T p.180
. . . . . . g.13846
GGCCCCCAAGTGTCTTGTTATATTACAGCACCATCATATGTTCTACAACAACTAGAATGC c.600
G P Q V S C Y I T A P S Y V L Q Q L E C p.200
. . . . . . g.13906
CGGATAATAAATCACATGAGTTCTTTAATAGTGGGTGATAATGAAGAGTTAGTTAGCAAC c.660
R I I N H M S S L I V G D N E E L V S N p.220
. . . . . . g.13966
GTCATAACTATTGAATGCTCAGATAAGGAAAAGAGAGTTCCATTTCCAATAGGCATTGCA c.720
V I T I E C S D K E K R V P F P I G I A p.240
. . . . . . g.14026
ATTCCATTTACTGCACGTTACAGAGGAAATTACAGAGATATCATGGTGAAAGTGTGTGAC c.780
I P F T A R Y R G N Y R D I M V K V C D p.260
. . . . . . g.14086
ATAAACCTTCAATCAAGTTACCTAAACCCAAATTCACTAGAAGGAATGAAGGGAGGTTAT c.840
I N L Q S S Y L N P N S L E G M K G G Y p.280
| 03 . . . . . . g.16968
AAG | GGGACCTGTGCTTCAGTAAAAGTTTACAAATTGGGTATCTTTTCTGTTGTGTCTTGT c.900
K | G T C A S V K V Y K L G I F S V V S C p.300
. . . . . . g.17028
TTAAAGAAAGAGTCGTTCACAGTAACAAAGAAAGGCCTCGCTCTTAAGTCAAGCATGGAT c.960
L K K E S F T V T K K G L A L K S S M D p.320
. . . . . . g.17088
TCCCGAATATCCTTAAATTACCCTCCAGGAGTTTTTACCTCTCCAGTGCTGGTGCAGTTA c.1020
S R I S L N Y P P G V F T S P V L V Q L p.340
| 04 . . . . . . g.18237
AAG | ATCCAACCAGTTGACCCAGCTCTGGTGGCACATTTAAAAGCACAGCAAGATACTTTC c.1080
K | I Q P V D P A L V A H L K A Q Q D T F p.360
. . . . . . g.18297
TACTCAGTCCAATCCACAAGCCCTCTGATTCACATTCAGCACCCATCAACTTATCCTTTT c.1140
Y S V Q S T S P L I H I Q H P S T Y P F p.380
. . . . . . g.18357
CAGAAGCCAGTCACTTTGTTTTTACCTTGTTCTCCATACCTTGATAAAAACAACCTTGGT c.1200
Q K P V T L F L P C S P Y L D K N N L G p.400
. . . . . . g.18417
TCTGAGATAGATCATAAAAGAAGAGCAAGTGCCACAATAAATAGGATTACACCTTCGTAT c.1260
S E I D H K R R A S A T I N R I T P S Y p.420
| 05 . . . . . g.29628
TTCAACCG | GACAAAAATTGCCTCCATAAGAAAACCTAGGAAAAATGCCAGTGAATGTTTG c.1320
F N R | T K I A S I R K P R K N A S E C L p.440
. . . . . . g.29688
AAATTACTGGGATTCAGAAGCCAAGACAGTGGTTGGTGTGGGCTTGATGATGTTGTGAAA c.1380
K L L G F R S Q D S G W C G L D D V V K p.460
. . . . . | 06 . g.31599
ACCATACAGAGCGGCTTGGTATCAGTTGAATTGTATGAACATTTGGAGAG | GTTTATTGTA c.1440
T I Q S G L V S V E L Y E H L E R | F I V p.480
. . . . . . g.31659
CTTCACCTCTCTTCCACCATGGACAATAGTCATTTGGTTACTTTTGTGAAATCTTTAGAG c.1500
L H L S S T M D N S H L V T F V K S L E p.500
. . . . . . g.31719
GAAGCCATGCTCAGCACCACTGCCTGCATAGTACTGTCTCACCAGAAGGACAATCCACAT c.1560
E A M L S T T A C I V L S H Q K D N P H p.520
. . . . . . g.31779
AGAATAGCTGTTTTAGTGGTGCCTTCCAAAGATTTAAGCCAGGTGCTTAAGGACCTGCAC c.1620
R I A V L V V P S K D L S Q V L K D L H p.540
. . . . . . g.31839
TTGGAAGGGTTTGGAGGACCTCCAGAGCCATCTCGTCATTTCCAAGTTCGAGAAGGAGAA c.1680
L E G F G G P P E P S R H F Q V R E G E p.560
. . . . | 07 . . g.39647
CAACTTCTTTTAAGATTTACTGGAAACATATTTGCTTCAA | GCAACGGGAAGGATTATGGA c.1740
Q L L L R F T G N I F A S S | N G K D Y G p.580
. . . . . . g.39707
AAAGACTACACACTTATTTTTCACTTGCAAAGAAAACCTAGGCTGGAACTCCAAATCAAA c.1800
K D Y T L I F H L Q R K P R L E L Q I K p.600
. . . . . . g.39767
GAAGTGGACGAATTTGGAAACTATAGTTGCCCTCATTACAAAGGCACCATTGTCGTTTAT c.1860
E V D E F G N Y S C P H Y K G T I V V Y p.620
. . . . . . g.39827
AAAGTACCTAAAGGAAAGATAGTCCCCAACTTGAATCAATCTCTCGTAATTAATGAAAAC c.1920
K V P K G K I V P N L N Q S L V I N E N p.640
. . . . | 08 . . g.62512
CATTCTCAGTTGCCAATTTGCAAATTACCATTGAAATTGCCAAAG | CATAAGAAATTAATC c.1980
H S Q L P I C K L P L K L P K | H K K L I p.660
. . . . | 09 . . g.66904
AACCGTCCACAGAGTACCAAAAGAGTTTCTAAGGATCCTGTAG | AAGCCCTTTGGGATAAC c.2040
N R P Q S T K R V S K D P V E | A L W D N p.680
. . . . . . g.66964
TTGCTCCATTGGCTGGCTGAGGAGCTCTCAGAAGAAAATGCTGAGTCTCTTTCCTCAACT c.2100
L L H W L A E E L S E E N A E S L S S T p.700
. . . . . . g.67024
CTCCCTCTGCGCCGTAGCACCATTCAGCTCATCAAACTCAAGAACCCTGATGATCTCACA c.2160
L P L R R S T I Q L I K L K N P D D L T p.720
. . . . . . g.67084
GAACAGATCCACGAGTTTCTTTGCTTCTGGAAAAAATCGCTTCCAACTTTCACCGACAAA c.2220
E Q I H E F L C F W K K S L P T F T D K p.740
. . . . . . g.67144
CTTCGCCTCCTGGCTCGACATCTCCGCAAGATTGGCAGGAGTGATCTTGCAGAAGAGCTC c.2280
L R L L A R H L R K I G R S D L A E E L p.760
. . . . . . g.67204
AAATTCAAGTGGGAAAATAAAGTGTTCACTGAACCACAGCAGTGTTTTGATGTAGCCCCT c.2340
K F K W E N K V F T E P Q Q C F D V A P p.780
g.67210
GAGTAA c.2346
E X p.781
. . . . . . g.67270
aagcctgatctctcttcctttacccctaggaaaaggcacacggtgggtttttgtttctgt c.*60
. . . . . . g.67330
caacattttcctggaagtttccgaatgatattatttgaagtcagtctatttaatgatgtg c.*120
. . . . . . g.67390
ctatttaatgatgtgagacaaagggagaagcacggatcagataatagaaagcattcctgg c.*180
. . . . . . g.67450
gtgtgagcgctcctctctggttgagtgattatgttttgcaaccatgactgtcttgagttt c.*240
. . . . . . g.67510
ggcctcacttaatagcatttgcaattgagtttgacttgttcacattttaaaagctaagtg c.*300
. . . . . . g.67570
tgaagaaaagatctgatatatgtaattacttattaattggtatctacataaaattaaact c.*360
. . . . . . g.67630
agttttctgtgacttcaagtgtgagcccaaaaatatctgagacagttctcaatcaattta c.*420
. . . . . . g.67690
gaaagattattttgccaaggttaaggacaggcccgtaacagcctcagaagatcctgatga c.*480
. . . . . . g.67750
catatgcccaaggtgttcggggtagagcttgcttttatgcattttagggagttataatat c.*540
. . . . . . g.67810
atcaatcaatacatgtaaggtgtacattggctcaatctggaaaggtaggacaactcaaag c.*600
. . . . . . g.67870
caggggcttccagatcacaggtagatttaaagattcttgattggcattgattgaacagtt c.*660
. . . . . . g.67930
attatctaaagacctggaatcaataggaaggaaatgcctgggctatgataagaagttatg c.*720
. . . . . . g.67990
gagaccaaagttttataatgcagatgaagcctccaggtagcagactttagagggaataga c.*780
. . . . . . g.68050
ttgtaaatatttctgatcagtcctaaggtctgttgaaatttatgctggccagcttttcct c.*840
. . . . . . g.68110
gaattccaaaagagaggagggtattatggagtcatgtccaacctccccttcccagcatgg c.*900
. . . . . . g.68170
cctaaactagtttttcaggataactttgaaatgcccttggctgagagaaggggcttgttc c.*960
g.68171
a c.*961
(downstream sequence)
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