(used for variant description)
(last modified December 7, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_003477.2 in the PDHX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013368.1, covering PDHX transcript NM_003477.2.
(upstream sequence)
. . . . g.5046
aaacgcccggcccgctaccctgcgcccagctccagccgccgggtcc c.-481
. . . . . . g.5106
cgcctgggcctctcctcctgggaataccgggcaccggtggccccgcccctacctgcgcgc c.-421
. . . . . . g.5166
cgcatctccgggaacaacagtctccctcccgagcatcacagccagacatggcccagacca c.-361
. . . . . . g.5226
gggacccgcgcggcctccaatctccgcacggctttgcgcgcggcgcttagcctgggatac c.-301
. . . . . . g.5286
ggcagcgaggccgcaaatgcaatcaggcggcgctgagggcagcccgggggcggggcgaac c.-241
. . . . . . g.5346
ggggcgggggccggggtctggtaaggccccgccggctgagatatccagcggcgcacctga c.-181
. . . . . . g.5406
cttcccgggaggcaaggccaacgtggttggaggcggggctgggttggggggcgggggttc c.-121
. . . . . . g.5466
aagtctgagagacctaaaggcaccgctagcgtctgggggcgtggccaaccatgcgggagg c.-61
. . . . . . g.5526
cggggccttgatgctggacatcaggctgtgctgcgggcagccagtgagaaggccgtcaag c.-1
. . . . . . g.5586
ATGGCGGCCTCCTGGAGGCTGGGCTGTGATCCGCGGCTGCTGCGTTATCTTGTGGGCTTC c.60
M A A S W R L G C D P R L L R Y L V G F p.20
. . . . . . g.5646
CCCGGCCGCCGAAGCGTAGGGCTGGTGAAGGGGGCTCTTGGGTGGTCTGTAAGCCGCGGA c.120
P G R R S V G L V K G A L G W S V S R G p.40
. . . . | 02 . . g.20294
GCTAATTGGAGATGGTTTCACAGCACGCAGTGGCTTCGGG | GTGATCCCATTAAGATACTA c.180
A N W R W F H S T Q W L R G | D P I K I L p.60
. . . . . . g.20354
ATGCCATCACTGTCTCCTACAATGGAAGAAGGAAACATTGTGAAATGGCTGAAAAAGGAA c.240
M P S L S P T M E E G N I V K W L K K E p.80
| 03 . . . . . . g.36435
G | GTGAAGCGGTGAGTGCTGGAGATGCATTATGTGAAATTGAGACTGACAAAGCTGTGGTT c.300
G | E A V S A G D A L C E I E T D K A V V p.100
. . . . | 04 . . g.46272
ACCTTAGATGCAAGTGATGATGGAATCTTGGCCAAAATCGTG | GTTGAAGAAGGAAGTAAA c.360
T L D A S D D G I L A K I V | V E E G S K p.120
. . . . . . g.46332
AATATACGGCTAGGTTCACTAATTGGTTTGATAGTAGAAGAAGGAGAAGATTGGAAACAT c.420
N I R L G S L I G L I V E E G E D W K H p.140
. . . . . . g.46392
GTTGAAATTCCCAAAGACGTAGGTCCTCCACCACCAGTTTCAAAACCTTCAGAGCCTCGC c.480
V E I P K D V G P P P P V S K P S E P R p.160
. . . . . . g.46452
CCCTCACCAGAACCACAGATTTCCATCCCTGTCAAGAAGGAACACATACCCGGGACACTA c.540
P S P E P Q I S I P V K K E H I P G T L p.180
| 05 . . . . . . g.49348
CG | GTTCCGTTTAAGTCCAGCTGCCCGCAATATTCTGGAAAAACACTCACTGGATGCTAGC c.600
R | F R L S P A A R N I L E K H S L D A S p.200
. . . . | 06 . . g.55529
CAGGGCACAGCCACTGGCCCTCGGGGGATATTCACTAAAGA | GGATGCTCTCAAACTTGTC c.660
Q G T A T G P R G I F T K E | D A L K L V p.220
. . . . . . g.55589
CAGTTGAAACAAACGGGCAAGATTACCGAGTCCAGACCAACTCCAGCCCCCACAGCCACT c.720
Q L K Q T G K I T E S R P T P A P T A T p.240
. . . . . . g.55649
CCCACAGCACCTTCGCCCCTACAGGCCACAGCTGGACCATCTTATCCCCGGCCTGTGATC c.780
P T A P S P L Q A T A G P S Y P R P V I p.260
. . . | 07 . . . g.59033
CCACCAGTATCAACTCCTGGACAACCCAATGCAGTG | GGCACATTCACTGAAATCCCCGCC c.840
P P V S T P G Q P N A V | G T F T E I P A p.280
. . . . . . g.59093
AGCAATATTCGAAGAGTTATTGCCAAGAGATTAACTGAATCTAAAAGTACTGTACCTCAT c.900
S N I R R V I A K R L T E S K S T V P H p.300
. . . . . . g.59153
GCATATGCTACTGCTGACTGTGACCTTGGAGCTGTTTTAAAAGTTAGGCAAGATCTGGTC c.960
A Y A T A D C D L G A V L K V R Q D L V p.320
| 08 . . . . . . g.67050
AAAG | ATGACATTAAAGTATCAGTAAATGATTTTATCATCAAGGCAGCAGCTGTTACCCTT c.1020
K D | D I K V S V N D F I I K A A A V T L p.340
| 09 . . . . . . g.73497
AAA | CAAATGCCAGATGTTAATGTAAGCTGGGATGGAGAGGGCCCAAAGCAACTGCCATTT c.1080
K | Q M P D V N V S W D G E G P K Q L P F p.360
. . . . . . g.73557
ATTGACATTTCAGTGGCTGTGGCAACAGATAAAGGCTTACTTACTCCAATCATAAAAGAT c.1140
I D I S V A V A T D K G L L T P I I K D p.380
. . . . | 10 . . g.81203
GCTGCTGCTAAAGGTATCCAGGAAATTGCTGACTCTGTAAAG | GCTCTATCAAAGAAAGCA c.1200
A A A K G I Q E I A D S V K | A L S K K A p.400
. . . . | 11. . g.83797
AGAGATGGAAAATTGTTGCCTGAAGAATACCAAGGAGGATCTTTTAG | TATTTCCAACTTG c.1260
R D G K L L P E E Y Q G G S F S | I S N L p.420
. . . . . . g.83857
GGGATGTTTGGCATCGACGAATTTACTGCAGTGATTAACCCTCCTCAGGCCTGCATTTTG c.1320
G M F G I D E F T A V I N P P Q A C I L p.440
. . . . . . g.83917
GCGGTTGGGAGGTTCCGACCTGTGCTGAAGCTCACTGAGGATGAAGAGGGAAATGCCAAA c.1380
A V G R F R P V L K L T E D E E G N A K p.460
. . . . . . g.83977
CTGCAGCAGCGCCAGCTCATAACAGTCACAATGTCAAGTGACAGTCGAGTGGTTGATGAC c.1440
L Q Q R Q L I T V T M S S D S R V V D D p.480
. . . . . . g.84037
GAACTGGCAACCAGGTTTCTTAAAAGTTTTAAAGCAAACCTAGAGAATCCTATCCGACTT c.1500
E L A T R F L K S F K A N L E N P I R L p.500
g.84043
GCCTAG c.1506
A X p.501
. . . . . . g.84103
tcctcaaagataagaagttggtgttcagcttagttgattcagtagttgttaccaagaaac c.*60
. . . . . . g.84163
atatgttataggaaaacaacttggtatttaagtatgaagtggatgaaatgtttatttatt c.*120
. . . . . . g.84223
taaggtgaaagcatttgacccagggtgtcttcatcttcaatttgggtttaatgttataga c.*180
. . . . . . g.84283
aataaatgatgataaactctaactaataaaggaaagagaatatttggttactcagatcca c.*240
. . . . . . g.84343
tttttaacctctggtgctgtataaagggaatattaaactagatgtaaatcaaagtatatg c.*300
. . . . . . g.84403
tttggctcatttgagcattttggaatatttgagaatgtatgatacatgtaaaattaaaaa c.*360
. . . . . . g.84463
aactattagaactgtaccataattatgttgaaggtagaagtgatcttcaaagagatggcc c.*420
. . . . . . g.84523
attaacttagcagtgggacctcacttttacaagcactgctctagatatacttgaagaatt c.*480
. . . . . . g.84583
taataggtacagaagtttattctggataataaataaataaggatcacactgtattagggg c.*540
. . . . . . g.84643
ttatggcaacattattgaattttttatgtacataaagccatatgtttagggtggtttcta c.*600
. . . . . . g.84703
tctgtcttgtttttcacttatataacactgtgaacttctaaagcaagaggataaaagaag c.*660
. . . . . . g.84763
catgaatgaaaagaatgacatttcaaaaaaatggttcaatgaaaaactatagctaaaata c.*720
. . . . . . g.84823
tgtaaacctttctaggtaaaccgcttgccttcatcttgagtcggaatatatttaaataaa c.*780
. . . . . . g.84883
ttgtgttatctcttgccaaacattttgttagtgtttatttaaaaacaaaatgttgtttct c.*840
. . . . . . g.84943
taatgcatttaaatcagttttgtattgtgcagtaaaatgtgagaaaatataaacatttct c.*900
. . . . . g.84999
attgtattttaaatgttaaaacacaaaagttcaataaaccttgaagttgattagta c.*956
(downstream sequence)
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