(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the NCF4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering NCF4 transcript NM_013416.3.
(upstream sequence)
g.1004
ggag c.-181
. . . . . . g.1064
gaggagcctctgccagactggagagaagcaggcctgagcctccccaaaggcagctcctgg c.-121
. . . . . . g.1124
ggactcccaggaccacaggctgagacgagacgcagggtggctggaggaagtgagaggtga c.-61
. . . . . . g.1184
actcagcctgggactggctgggcgagactctccacctgctccctgggaccatcgcccacc c.-1
. . . | 02 . . . g.4085
ATGGCTGTGGCCCAGCAGCTGCGGGCCGAGAG | TGACTTTGAACAGCTTCCGGATGATGTT c.60
M A V A Q Q L R A E S | D F E Q L P D D V p.20
. . . . . | 03. g.4934
GCCATCTCGGCCAACATTGCTGACATCGAGGAGAAGAGAGGCTTCACCAGCCACTTT | GTT c.120
A I S A N I A D I E E K R G F T S H F | V p.40
. . . . . . g.4994
TTCGTCATCGAGGTGAAGACAAAAGGAGGATCCAAGTACCTCATCTACCGCCGCTACCGC c.180
F V I E V K T K G G S K Y L I Y R R Y R p.60
. . . . . . g.5054
CAGTTCCATGCTTTGCAGAGCAAGCTGGAGGAGCGCTTCGGGCCAGACAGCAAGAGCAGT c.240
Q F H A L Q S K L E E R F G P D S K S S p.80
. . . | 04 . . . g.7433
GCCCTGGCCTGTACCCTGCCCACACTCCCAG | CCAAAGTCTACGTGGGTGTGAAACAGGAG c.300
A L A C T L P T L P A | K V Y V G V K Q E p.100
. . . . | 05 . . g.10445
ATCGCCGAGATGCGGATACCTGCCCTCAACGCCTACATGAAG | AGCCTGCTCAGCCTGCCG c.360
I A E M R I P A L N A Y M K | S L L S L P p.120
. . . . . . g.10505
GTCTGGGTGCTGATGGATGAGGACGTCCGGATCTTCTTTTACCAGTCGCCCTATGACTCA c.420
V W V L M D E D V R I F F Y Q S P Y D S p.140
. . . . . | 06 . g.11674
GAGCAGGTGCCCCAGGCACTCCGCCGGCTCCGCCCGCGCACCCGGAAAGT | CAAGAGCGTG c.480
E Q V P Q A L R R L R P R T R K V | K S V p.160
. . . . | 07 . g.12351
TCCCCACAGGGCAACAGCGTTGACCGCATGGCAGCTCCGAGAGCAGAG | GCTCTATTTGAC c.540
S P Q G N S V D R M A A P R A E | A L F D p.180
. . . . . . g.12411
TTCACTGGAAACAGCAAACTGGAGCTGAATTTCAAAGCTGGAGATGTGATCTTCCTCCTC c.600
F T G N S K L E L N F K A G D V I F L L p.200
. . | 08. . . . g.15698
AGTCGGATCAACAAAGACTGGCTGGAG | GGCACTGTCCGGGGAGCCACGGGCATCTTCCCT c.660
S R I N K D W L E | G T V R G A T G I F P p.220
. . . . . . g.15758
CTCTCCTTCGTGAAGATCCTCAAAGACTTCCCTGAGGAGGACGACCCCACCAACTGGCTG c.720
L S F V K I L K D F P E E D D P T N W L p.240
. . . . . . g.15818
CGTTGCTACTACTACGAAGACACCATCAGCACCATCAAGTCTGTGGCCTGGGAGGGAGGG c.780
R C Y Y Y E D T I S T I K S V A W E G G p.260
. . . . . . g.15878
GCCTGTCCAGCCTTCCTGCCATCCCTACGACCACTGCCCCTCACATCACCTTCTCATGGG c.840
A C P A F L P S L R P L P L T S P S H G p.280
. . . . . . g.15938
TCCCTCTCCCACTCCAAAGCCCCCAGTGGCTCCCAGATGAGCCACAATGCTGTAACAAGC c.900
S L S H S K A P S G S Q M S H N A V T S p.300
. . . . . . g.15998
CATCAACGTCCAGGGTGGCCTGGCCAGCCTCATTCCCCTTTCCCCCACCCCACACCCCAC c.960
H Q R P G W P G Q P H S P F P H P T P H p.320
. . . . . . g.16058
TTCCAGCCTGATGCCTCCTTACTCCAGCCTGTCACCCCCTTAGGGACATCGCGGTGGAGG c.1020
F Q P D A S L L Q P V T P L G T S R W R p.340
. . g.16085
AAGATCTCAGCAGCACTCCCCTATTGA | c.1048
K I S A A L P Y X p.348
. . | 09 . . . . g.17678
aagacctgctggagctcacaag | gcgggagttccagagagaggacatagctctgaattacc c.*60
. . . . . . g.17738
gggacgctgagggggatctggttcggctgctgtcggatgaggacgtagcgctcatggtgc c.*120
. . . . . . g.17798
ggcaggctcgtggcctcccctcccagaagcgcctcttcccctggaagctgcacatcacgc c.*180
. . . . . . g.17858
agaaggacaactacagggtctacaacacgatgccatgagctgacggtgtccctggagcag c.*240
. . . . . . g.17918
tgaggggacaccagcaaaaaccttcagctctcagaggagattgggaccaggaaaacctgg c.*300
. . . . . . g.17978
gaggatgggcagacttcctgtctttgaggctaatggacccgtggggcttgtaatctgtct c.*360
. . . . . g.18030
ctttctactatttacatctgatttaaataaaccattccatctgaaaggggca c.*412
(downstream sequence)
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