(used for variant description)
(last modified February 17, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_058176.2 in the HDAC9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023250.3, covering HDAC9 transcript NM_058176.2.
(upstream sequence)
. . . . g.414354
atggggtggctggacgagagcagctcttggctcagcaaaga c.-1
. . | 02 . . . . g.503370
ATGCACAGTATGATCAGCTCAG | TGGATGTGAAGTCAGAAGTTCCTGTGGGCCTGGAGCCC c.60
M H S M I S S V | D V K S E V P V G L E P p.20
. . . . . . g.503430
ATCTCACCTTTAGACCTAAGGACAGACCTCAGGATGATGATGCCCGTGGTGGACCCTGTT c.120
I S P L D L R T D L R M M M P V V D P V p.40
. . . . . . g.503490
GTCCGTGAGAAGCAATTGCAGCAGGAATTACTTCTTATCCAGCAGCAGCAACAAATCCAG c.180
V R E K Q L Q Q E L L L I Q Q Q Q Q I Q p.60
. . . . . . g.503550
AAGCAGCTTCTGATAGCAGAGTTTCAGAAACAGCATGAGAACTTGACACGGCAGCACCAG c.240
K Q L L I A E F Q K Q H E N L T R Q H Q p.80
. . | 03 . . . . g.508432
GCTCAGCTTCAGGAGCATATCAAG | GAACTTCTAGCCATAAAACAGCAACAAGAACTCCTA c.300
A Q L Q E H I K | E L L A I K Q Q Q E L L p.100
. . . . . . g.508492
GAAAAGGAGCAGAAACTGGAGCAGCAGAGGCAAGAACAGGAAGTAGAGAGGCATCGCAGA c.360
E K E Q K L E Q Q R Q E Q E V E R H R R p.120
. . . . | 04 . . g.509581
GAACAGCAGCTTCCTCCTCTCAGAGGCAAAGATAGAGGACGAGAAA | GGGCAGTGGCAAGT c.420
E Q Q L P P L R G K D R G R E R | A V A S p.140
. . . . . . g.509641
ACAGAAGTAAAGCAGAAGCTTCAAGAGTTCCTACTGAGTAAATCAGCAACGAAAGACACT c.480
T E V K Q K L Q E F L L S K S A T K D T p.160
. . . . . | 05 . g.511966
CCAACTAATGGAAAAAATCATTCCGTGAGCCGCCATCCCAAGCTCTGGTACAC | GGCTGCC c.540
P T N G K N H S V S R H P K L W Y T | A A p.180
. . . . . . g.512026
CACCACACATCATTGGATCAAAGCTCTCCACCCCTTAGTGGAACATCTCCATCCTACAAG c.600
H H T S L D Q S S P P L S G T S P S Y K p.200
. . . . . | 06 . g.547406
TACACATTACCAGGAGCACAAGATGCAAAGGATGATTTCCCCCTTCGAAAAACTG | CCTCT c.660
Y T L P G A Q D A K D D F P L R K T A | S p.220
. . . . . . g.547466
GAGCCCAACTTGAAGGTGCGGTCCAGGTTAAAACAGAAAGTGGCAGAGAGGAGAAGCAGC c.720
E P N L K V R S R L K Q K V A E R R S S p.240
. . . . . . g.547526
CCCTTACTCAGGCGGAAGGATGGAAATGTTGTCACTTCATTCAAGAAGCGAATGTTTGAG c.780
P L L R R K D G N V V T S F K K R M F E p.260
| 07. . . . . . g.552731
GTGACAG | AATCCTCAGTCAGTAGCAGTTCTCCAGGCTCTGGTCCCAGTTCACCAAACAAT c.840
V T E | S S V S S S S P G S G P S S P N N p.280
. . . . . . g.552791
GGGCCAACTGGAAGTGTTACTGAAAATGAGACTTCGGTTTTGCCCCCTACCCCTCATGCC c.900
G P T G S V T E N E T S V L P P T P H A p.300
| 08 . . . . . . g.562779
GAG | CAAATGGTTTCACAGCAACGCATTCTAATTCATGAAGATTCCATGAACCTGCTAAGT c.960
E | Q M V S Q Q R I L I H E D S M N L L S p.320
. . . . . . g.562839
CTTTATACCTCTCCTTCTTTGCCCAACATTACCTTGGGGCTTCCCGCAGTGCCATCCCAG c.1020
L Y T S P S L P N I T L G L P A V P S Q p.340
| 09 . . . . . . g.565890
CTCAAT | GCTTCGAATTCACTCAAAGAAAAGCAGAAGTGTGAGACGCAGACGCTTAGGCAA c.1080
L N | A S N S L K E K Q K C E T Q T L R Q p.360
. . . . . . g.565950
GGTGTTCCTCTGCCTGGGCAGTATGGAGGCAGCATCCCGGCATCTTCCAGCCACCCTCAT c.1140
G V P L P G Q Y G G S I P A S S S H P H p.380
. . . . . . g.566010
GTTACTTTAGAGGGAAAGCCACCCAACAGCAGCCACCAGGCTCTCCTGCAGCATTTATTA c.1200
V T L E G K P P N S S H Q A L L Q H L L p.400
. . . . | 10 . . g.566537
TTGAAAGAACAAATGCGACAGCAAAAGCTTCTTGTAGCTG | GTGGAGTTCCCTTACATCCT c.1260
L K E Q M R Q Q K L L V A G | G V P L H P p.420
. . . . . . g.566597
CAGTCTCCCTTGGCAACAAAAGAGAGAATTTCACCTGGCATTAGAGGTACCCACAAATTG c.1320
Q S P L A T K E R I S P G I R G T H K L p.440
. . . . . . g.566657
CCCCGTCACAGACCCCTGAACCGAACCCAGTCTGCACCTTTGCCTCAGAGCACGTTGGCT c.1380
P R H R P L N R T Q S A P L P Q S T L A p.460
. . . . . . g.566717
CAGCTGGTCATTCAACAGCAACACCAGCAATTCTTGGAGAAGCAGAAGCAATACCAGCAG c.1440
Q L V I Q Q Q H Q Q F L E K Q K Q Y Q Q p.480
. | 11 . . . . g.584306
CAGATCCACATGAACAAA | CTGCTTTCGAAATCTATTGAACAACTGAAGCAACCAGGCAGT c.1500
Q I H M N K | L L S K S I E Q L K Q P G S p.500
. . . . . . g.584366
CACCTTGAGGAAGCAGAGGAAGAGCTTCAGGGGGACCAGGCGATGCAGGAAGACAGAGCG c.1560
H L E E A E E E L Q G D Q A M Q E D R A p.520
. . . . . . g.584426
CCCTCTAGTGGCAACAGCACTAGGAGCGACAGCAGTGCTTGTGTGGATGACACACTGGGA c.1620
P S S G N S T R S D S S A C V D D T L G p.540
. . . . . . g.584486
CAAGTTGGGGCTGTGAAGGTCAAGGAGGAACCAGTGGACAGTGATGAAGATGCTCAGATC c.1680
Q V G A V K V K E E P V D S D E D A Q I p.560
. . . . | 12 . . g.645649
CAGGAAATGGAATCTGGGGAGCAGGCTGCTTTTATGCAACAG | CCTTTCCTGGAACCCACG c.1740
Q E M E S G E Q A A F M Q Q | P F L E P T p.580
. . . . . . g.645709
CACACACGTGCGCTCTCTGTGCGCCAAGCTCCGCTGGCTGCGGTTGGCATGGATGGATTA c.1800
H T R A L S V R Q A P L A A V G M D G L p.600
. . . . . . g.645769
GAGAAACACCGTCTCGTCTCCAGGACTCACTCTTCCCCTGCTGCCTCTGTTTTACCTCAC c.1860
E K H R L V S R T H S S P A A S V L P H p.620
. . . . | 13 . . g.667076
CCAGCAATGGACCGCCCCCTCCAGCCTGGCTCTGCAACTG | GAATTGCCTATGACCCCTTG c.1920
P A M D R P L Q P G S A T G | I A Y D P L p.640
. . . . . . g.667136
ATGCTGAAACACCAGTGCGTTTGTGGCAATTCCACCACCCACCCTGAGCATGCTGGACGA c.1980
M L K H Q C V C G N S T T H P E H A G R p.660
. . . . . | 14 . g.680214
ATACAGAGTATCTGGTCACGACTGCAAGAAACTGGGCTGCTAAATAAATGTGAG | CGAATT c.2040
I Q S I W S R L Q E T G L L N K C E | R I p.680
. . . . . . g.680274
CAAGGTCGAAAAGCCAGCCTGGAGGAAATACAGCTTGTTCATTCTGAACATCACTCACTG c.2100
Q G R K A S L E E I Q L V H S E H H S L p.700
. . . . . | 15 . g.685162
TTGTATGGCACCAACCCCCTGGACGGACAGAAGCTGGACCCCAGGATACTCCTAG | GTGAT c.2160
L Y G T N P L D G Q K L D P R I L L G | D p.720
. . . . | 16 . . g.711411
GACTCTCAAAAGTTTTTTTCCTCATTACCTTGTGGTGGACTTGGG | GTGGACAGTGACACC c.2220
D S Q K F F S S L P C G G L G | V D S D T p.740
. . . . . . g.711471
ATTTGGAATGAGCTACACTCGTCCGGTGCTGCACGCATGGCTGTTGGCTGTGTCATCGAG c.2280
I W N E L H S S G A A R M A V G C V I E p.760
. . . | 17 . . . g.747239
CTGGCTTCCAAAGTGGCCTCAGGAGAGCTGAAG | AATGGGTTTGCTGTTGTGAGGCCCCCT c.2340
L A S K V A S G E L K | N G F A V V R P P p.780
. . | 18 . . . g.747543
GGCCATCACGCTGAAGAATCCACAGCCAT | GGGGTTCTGCTTTTTTAATTCAGTTGCAATT c.2400
G H H A E E S T A M | G F C F F N S V A I p.800
. . . . . | 19. g.753521
ACCGCCAAATACTTGAGAGACCAACTAAATATAAGCAAGATATTGATTGTAGATCTG | GAT c.2460
T A K Y L R D Q L N I S K I L I V D L | D p.820
. . . . . . g.753581
GTTCACCATGGAAACGGTACCCAGCAGGCCTTTTATGCTGACCCCAGCATCCTGTACATT c.2520
V H H G N G T Q Q A F Y A D P S I L Y I p.840
. . . . . | 20. g.753954
TCACTCCATCGCTATGATGAAGGGAACTTTTTCCCTGGCAGTGGAGCCCCAAATGAG | GTT c.2580
S L H R Y D E G N F F P G S G A P N E | V p.860
. . . . . . g.754014
GGAACAGGCCTTGGAGAAGGGTACAATATAAATATTGCCTGGACAGGTGGCCTTGATCCT c.2640
G T G L G E G Y N I N I A W T G G L D P p.880
. . . | 21 . . . g.792554
CCCATGGGAGATGTTGAGTACCTTGAAGCATTCAG | GACCATCGTGAAGCCTGTGGCCAAA c.2700
P M G D V E Y L E A F R | T I V K P V A K p.900
. . . . . . g.792614
GAGTTTGATCCAGACATGGTCTTAGTATCTGCTGGATTTGATGCATTGGAAGGCCACACC c.2760
E F D P D M V L V S A G F D A L E G H T p.920
. . . | 22 . . . g.853886
CCTCCTCTAGGAGGGTACAAAGTGACGGCAAAAT | GTTTTGGTCATTTGACGAAGCAATTG c.2820
P P L G G Y K V T A K C | F G H L T K Q L p.940
. . . . . . g.853946
ATGACATTGGCTGATGGACGTGTGGTGTTGGCTCTAGAAGGAGGACATGATCTCACAGCC c.2880
M T L A D G R V V L A L E G G H D L T A p.960
. . . . | 23 . g.872209
ATCTGTGATGCATCAGAAGCCTGTGTAAATGCCCTTCTAGGAAATGAG | CTGGAGCCACTT c.2940
I C D A S E A C V N A L L G N E | L E P L p.980
. . . . . . g.872269
GCAGAAGATATTCTCCACCAAAGCCCGAATATGAATGCTGTTATTTCTTTACAGAAGATC c.3000
A E D I L H Q S P N M N A V I S L Q K I p.1000
. . . g.872305
ATTGAAATTCAAAGTATGTCTTTAAAGTTCTCTTAA c.3036
I E I Q S M S L K F S X p.1011
. . . . . . g.872365
aaattctaagcaggtaaaactaactaaaattatattgaaaattatagtacaaagaaacat c.*60
g.872368
tta c.*63
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 25e
©2004-2021 Leiden University Medical Center