(used for variant description)
(last modified November 6, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_024417.2 in the FDXR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering FDXR transcript NM_024417.2.
(upstream sequence)
. . g.5027
gcttgtgggcgggcccgggcaggagcg c.-61
. . . . . . g.5087
ggcttgccctgcggagcagtagctaggaacagatccacttgcaggttgctgttcccagcc c.-1
. . . . . . g.5147
ATGGCTTCGCGCTGCTGGCGCTGGTGGGGCTGGTCGGCGTGGCCTCGGACCCGGCTGCCT c.60
M A S R C W R W W G W S A W P R T R L P p.20
. | 02 . . . . g.5939
CCCGCCGGGAGCACCCCGA | GCTTCTGCCACCATTTCTCCACACAGGAGAAGACCCCCCAG c.120
P A G S T P S | F C H H F S T Q E K T P Q p.40
. . . . . | 03. g.11161
ATCTGTGTGGTGGGCAGTGGCCCAGCTGGCTTCTACACGGCCCAACACCTGCTAAAG | CAC c.180
I C V V G S G P A G F Y T A Q H L L K | H p.60
. . . . . . g.11221
CCCCAGGCCCACGTGGACATCTACGAGAAACAGCCTGTGCCCTTTGGCCTGGTGCGCTTT c.240
P Q A H V D I Y E K Q P V P F G L V R F p.80
. . . | 04 . . . g.11496
GGTGTGGCGCCTGATCACCCCGAGGTGAAG | AATGTCATCAACACATTTACCCAGACGGCC c.300
G V A P D H P E V K | N V I N T F T Q T A p.100
. . . . . . g.11556
CATTCTGGCCGCTGTGCCTTCTGGGGCAACGTGGAGGTGGGCAGGGACGTGACGGTGCCG c.360
H S G R C A F W G N V E V G R D V T V P p.120
. . . | 05 . . . g.11817
GAGCTGCGGGAGGCCTACCACGCTGTGGTGCTG | AGCTACGGGGCAGAGGACCATCGGGCC c.420
E L R E A Y H A V V L | S Y G A E D H R A p.140
. . . . . . g.11877
CTGGAAATTCCTGGTGAGGAGCTGCCAGGTGTGTGCTCCGCCCGGGCCTTCGTGGGCTGG c.480
L E I P G E E L P G V C S A R A F V G W p.160
. . | 06. . . . g.12247
TACAACGGGCTTCCTGAGAACCAGGAG | CTGGAGCCAGACCTGAGCTGTGACACAGCCGTG c.540
Y N G L P E N Q E | L E P D L S C D T A V p.180
. . . . . . g.12307
ATTCTGGGGCAGGGGAACGTGGCTCTGGACGTGGCCCGCATCCTACTGACCCCACCTGAG c.600
I L G Q G N V A L D V A R I L L T P P E p.200
| 07 . . . . . g.13154
CACCTGGAG | AGAACGGACATCACGAAGGCAGCCCTGGGTGTACTGAGGCAGAGTCGAGTG c.660
H L E | R T D I T K A A L G V L R Q S R V p.220
. . . . . | 08. g.13473
AAGACAGTGTGGCTAGTGGGCCGGCGTGGACCCCTGCAAGTGGCCTTCACCATTAAG | GAG c.720
K T V W L V G R R G P L Q V A F T I K | E p.240
. . . . . . g.13533
CTTCGGGAGATGATTCAGTTACCGGGAGCCCGGCCCATTTTGGATCCTGTGGATTTCTTG c.780
L R E M I Q L P G A R P I L D P V D F L p.260
. . | 09 . . . . g.13725
GGTCTCCAGGACAAGATCAAGG | AGGTCCCCCGCCCGAGGAAGCGGCTGACGGAACTGCTG c.840
G L Q D K I K E | V P R P R K R L T E L L p.280
. . . . . . g.13785
CTTCGAACGGCCACAGAGAAGCCAGGGCCGGCGGAAGCTGCCCGCCAGGCATCGGCCTCC c.900
L R T A T E K P G P A E A A R Q A S A S p.300
. . . . . . g.13845
CGTGCCTGGGGCCTCCGCTTTTTCCGAAGCCCCCAGCAGGTGCTGCCCTCACCAGATGGG c.960
R A W G L R F F R S P Q Q V L P S P D G p.320
. . . . | 10 . . g.13985
CGGCGGGCAGCAGGTGTCCGCCTAGCAGTCACTAGACTGGAG | GGTGTCGATGAGGCCACC c.1020
R R A A G V R L A V T R L E | G V D E A T p.340
. . . . . . g.14045
CGTGCAGTGCCCACGGGAGACATGGAAGACCTCCCTTGTGGGCTGGTGCTCAGCAGCATT c.1080
R A V P T G D M E D L P C G L V L S S I p.360
. . . . . . g.14105
GGGTATAAGAGCCGCCCTGTCGACCCAAGCGTGCCCTTTGACTCCAAGCTTGGGGTCATC c.1140
G Y K S R P V D P S V P F D S K L G V I p.380
. . . | 11 . . . g.14814
CCCAATGTGGAGGGCCGGGTTATGGATGTGCCAG | GCCTCTACTGCAGCGGCTGGGTGAAG c.1200
P N V E G R V M D V P G | L Y C S G W V K p.400
. . . . . . g.14874
AGAGGACCTACAGGTGTCATAGCCACAACCATGACTGACAGCTTCCTCACCGGCCAGATG c.1260
R G P T G V I A T T M T D S F L T G Q M p.420
. . . . . . g.14934
CTGCTGCAGGACCTGAAGGCTGGGTTGCTCCCCTCTGGCCCCAGGCCTGGCTACGCAGCC c.1320
L L Q D L K A G L L P S G P R P G Y A A p.440
. . | 12 . . . . g.15122
ATCCAGGCCCTGCTCAGCAGCCGAG | GGGTCCGGCCAGTCTCTTTCTCAGACTGGGAGAAG c.1380
I Q A L L S S R G | V R P V S F S D W E K p.460
. . . . . . g.15182
CTGGATGCCGAGGAGGTGGCCCGGGGCCAGGGCACGGGGAAGCCCAGGGAGAAGCTGGTG c.1440
L D A E E V A R G Q G T G K P R E K L V p.480
. . . g.15218
GATCCTCAGGAGATGCTGCGCCTCCTGGGCCACTGA c.1476
D P Q E M L R L L G H X p.491
. . . . . . g.15278
gcccagccccagccccggcccccagcagggaagggatgagtgttgggaggggaagggctg c.*60
. . . . . . g.15338
ggtccgtctgagtgggactttgcacctctgctgatcccggccggccctggcttggaggct c.*120
. . . . . . g.15398
tggctgctcttccagcgtctctcctccctcctggggaaggtcgcccttgcgcgcaaggtt c.*180
. . . . . . g.15458
ttagctttcagcaactgaggtaaccttagggacaggtggaggtgtgggccgatctaaccc c.*240
. . . . . . g.15518
cttacccatctctctactgctggactgtggagggtcaccaggttgggaacatgctggaaa c.*300
. . g.15538
taaaacagctgcaaccaaga c.*320
(downstream sequence)
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