(used for variant description)
(last modified December 6, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000183.2 in the HADHB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007294.1, covering HADHB transcript NM_000183.2.
(upstream sequence)
. g.4806
tcgctcctggc c.-241
. . . . . . g.4866
taacatggccgaaaggtcgtattctccgggggaggacgggggcccggagaggagggggtg c.-181
. . . . . . g.4926
gagtgcctggttttccagtcaggcggccggagggcagccctcaagaacggccctgaccgc c.-121
. . . . . . g.4986
ccgcggggtgaggggccctttctgggcaggacccgccccttggtcccgcagagccttggt c.-61
. . . . . . | 02 g.14302
acttggacctgaaccttgctccgagagggagtcctcgcggacgtcagccaag | attccaga c.-1
. . . . . . g.14362
ATGACTATCTTGACTTACCCCTTTAAAAATCTTCCCACTGCATCAAAATGGGCCCTCAGA c.60
M T I L T Y P F K N L P T A S K W A L R p.20
| 03 . . . . | 04 . g.23438
TTTT | CCATAAGACCTCTGAGCTGTTCCTCCCAGCTACGAGCTGCCCCAG | CTGTCCAGACC c.120
F S | I R P L S C S S Q L R A A P A | V Q T p.40
. . . . . . g.23498
AAAACGAAGAAGACGTTAGCCAAACCCAATATAAGGAATGTTGTGGTGGTGGATGGTGTT c.180
K T K K T L A K P N I R N V V V V D G V p.60
. . | 05 . . . g.30031
CGCACTCCATTTTTGCTGTCTGGCACTTC | ATATAAAGACCTGATGCCACATGATTTGGCT c.240
R T P F L L S G T S | Y K D L M P H D L A p.80
. | 06 . . . . . g.33744
AGAGCAGCGCTTAC | GGGTTTGTTGCATCGGACCAGTGTCCCTAAGGAAGTAGTTGATTAT c.300
R A A L T | G L L H R T S V P K E V V D Y p.100
. . . . . | 07 . g.37126
ATCATCTTTGGTACAGTTATTCAGGAAGTGAAAACAAGCAATGTGGCTAGAGAG | GCTGCC c.360
I I F G T V I Q E V K T S N V A R E | A A p.120
. . . . . . g.37186
CTTGGAGCTGGCTTCTCTGACAAGACTCCTGCTCACACTGTCACCATGGCTTGTATCTCT c.420
L G A G F S D K T P A H T V T M A C I S p.140
. . | 08 . . . . g.38699
GCCAACCAAGCCATGACCACAG | GTGTTGGCTTGATTGCTTCTGGCCAGTGTGATGTGATC c.480
A N Q A M T T G | V G L I A S G Q C D V I p.160
. . . . . . g.38759
GTGGCAGGTGGTGTTGAGTTGATGTCCGATGTCCCTATTCGTCACTCAAGGAAAATGAGA c.540
V A G G V E L M S D V P I R H S R K M R p.180
. . . . . . g.38819
AAACTGATGCTTGATCTCAATAAGGCCAAATCTATGGGCCAGCGACTGTCTTTAATCTCT c.600
K L M L D L N K A K S M G Q R L S L I S p.200
. . . | 09 . . . g.39212
AAATTCCGATTTAATTTCCTAGCACCTGAG | CTCCCTGCGGTTTCTGAGTTCTCCACCAGT c.660
K F R F N F L A P E | L P A V S E F S T S p.220
. . . . . . g.39272
GAGACCATGGGCCACTCTGCAGACCGACTGGCCGCTGCCTTTGCTGTTTCTCGGCTGGAA c.720
E T M G H S A D R L A A A F A V S R L E p.240
. . . . . . g.39332
CAGGATGAATATGCACTGCGCTCTCACAGTCTAGCCAAGAAGGCACAGGATGAAGGACTC c.780
Q D E Y A L R S H S L A K K A Q D E G L p.260
. . . | 10 . . . g.40070
CTTTCTGATGTGGTACCCTTCAAAGTACCAG | GAAAAGATACAGTTACCAAAGATAATGGC c.840
L S D V V P F K V P G | K D T V T K D N G p.280
. . . . . . g.40130
ATCCGTCCTTCCTCACTGGAGCAGATGGCCAAACTAAAACCTGCATTCATCAAGCCCTAC c.900
I R P S S L E Q M A K L K P A F I K P Y p.300
. . . | 11 . . . g.42919
GGCACAGTGACAGCTGCAAATTCTTCTTTCTTG | ACTGATGGTGCATCTGCAATGTTAATC c.960
G T V T A A N S S F L | T D G A S A M L I p.320
. . . . . | 12 . g.43058
ATGGCGGAGGAAAAGGCTCTGGCCATGGGTTATAAGCCGAAGGCATATTTGAG | GGATTTT c.1020
M A E E K A L A M G Y K P K A Y L R | D F p.340
. . . . | 13 . . g.44183
ATGTATGTGTCTCAGGATCCAAAAGATCAACTATTACTTGG | ACCAACATATGCTACTCCA c.1080
M Y V S Q D P K D Q L L L G | P T Y A T P p.360
. . . . . . g.44243
AAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAA c.1140
K V L E K A G L T M N D I D A F E F H E p.380
| 14 . . . . . g.44981
GCTTTCTCG | GGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAA c.1200
A F S | G Q I L A N F K A M D S D W F A E p.400
. . | 15 . . . . g.45490
AACTACATGGGTAGAAAAACCAAG | GTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGG c.1260
N Y M G R K T K | V G L P P L E K F N N W p.420
. . . . . . g.45550
GGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCT c.1320
G G S L S L G H P F G A T G C R L V M A p.440
. . . . . . g.45610
GCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCT c.1380
A A N R L R K E G G Q Y G L V A A C A A p.460
| 16 . . . g.50016
GGAGGGCAG | GGCCATGCTATGATAGTGGAAGCTTATCCAAAATAA c.1425
G G Q | G H A M I V E A Y P K X p.474
. . . . . . g.50076
tagatccagaagaagtgacctgaagtttctgtgcaacactcacactaggcaatgccattt c.*60
. . . . . . g.50136
caatgcattactaaatgacatttgtagttcctagctcctcttaggaaaacagttcttgtg c.*120
. . . . . . g.50196
gccttctattaaatagtttgcacttaagccttgccagtgttctgagcttttcaataatca c.*180
. . . . . . g.50256
gtttactgctctttcagggatttctaagccaccagaatctcacatgagatgtgtgggtgg c.*240
. . . . . . g.50316
ttgtttttggtctctgttgtcactaaagactaaatgagggtttgcagttgggaaagaggt c.*300
. . . . . . g.50376
caactgagatttggaaatcatctttgtaatatttgcaaattatacttgttcttatctgtg c.*360
. . . . . . g.50436
tcctaaagatgtgttctctataaaatacaaaccaacgtgcctaattaattatggaaaaat c.*420
. . . . . . g.50496
aattcagaatctaaacaccactgaaaacttataaaaaatgtttagatacataaatatggt c.*480
. . . g.50528
ggtcagcgttaataaagtggagaaatattgga c.*512
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2014 Leiden University Medical Center