(used for mutation description)
(last modified April 30, 2014)
This file was created to facilitate the description of sequence variants in the NCF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering NCF1 transcript NM_000265.5.
(upstream sequence)
. g.1010
cgacttcctc c.-61
. . . . . . g.1070
tttccagtgcatttaaggcgcagcctggaagtgccagggagcactggaggccacccagtc c.-1
. . . . . . g.1130
ATGGGGGACACCTTCATCCGTCACATCGCCCTGCTGGGCTTTGAGAAGCGCTTCGTACCC c.60
M G D T F I R H I A L L G F E K R F V P p.20
. | 02 . . . . . g.4352
AGCCAGCACTAT | GTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTC c.120
S Q H Y | V Y M F L V K W Q D L S E K V V p.40
. . . | 03 . . . g.6146
TACCGGCGCTTCACCGAGATCTACGAGTTCCAT | AAAACCTTAAAAGAAATGTTCCCTATT c.180
Y R R F T E I Y E F H | K T L K E M F P I p.60
. . . . | 04 . g.6305
GAGGCAGGGGCGATCAATCCAGAGAACAGGATCATCCCCCACCTCCCAG | CTCCCAAGTGG c.240
E A G A I N P E N R I I P H L P A | P K W p.80
. . . . . . g.6365
TTTGACGGGCAGCGGGCCGCCGAGAACCGCCAGGGCACACTTACCGAGTACTGCGGCACG c.300
F D G Q R A A E N R Q G T L T E Y C G T p.100
. . . . . . g.6425
CTCATGAGCCTGCCCACCAAGATCTCCCGCTGTCCCCACCTCCTCGACTTCTTCAAGGTG c.360
L M S L P T K I S R C P H L L D F F K V p.120
. . . | 05 . . . g.7842
CGCCCTGATGACCTCAAGCTCCCCACGGACAACCA | GACAAAAAAGCCAGAGACATACTTG c.420
R P D D L K L P T D N Q | T K K P E T Y L p.140
. . . | 06 . . . g.10002
ATGCCCAAAGATGGCAAGAGTACCGCGACAG | ACATCACCGGCCCCATCATCCTGCAGACG c.480
M P K D G K S T A T D | I T G P I I L Q T p.160
. . . . . . g.10062
TACCGCGCCATTGCCAACTACGAGAAGACCTCGGGCTCCGAGATGGCTCTGTCCACGGGG c.540
Y R A I A N Y E K T S G S E M A L S T G p.180
. . . | 07 . . . g.10585
GACGTGGTGGAGGTCGTAGAGAAGAGCGAGAGCG | GTTGGTGGTTCTGTCAGATGAAAGCA c.600
D V V E V V E K S E S G | W W F C Q M K A p.200
. . . . . . g.10645
AAGCGAGGCTGGATCCCAGCGTCCTTCCTCGAGCCCCTGGACAGTCCTGACGAGACGGAA c.660
K R G W I P A S F L E P L D S P D E T E p.220
. . | 08 . . . . g.12257
GACCCTGAGCCCAACTATGCAG | GTGAGCCATACGTCGCCATCAAGGCCTACACTGCTGTG c.720
D P E P N Y A G | E P Y V A I K A Y T A V p.240
. . . . . . g.12317
GAGGGGGACGAGGTGTCCCTGCTCGAGGGTGAAGCTGTTGAGGTCATTCACAAGCTCCTG c.780
E G D E V S L L E G E A V E V I H K L L p.260
. . | 09 . . . . g.15059
GACGGCTGGTGGGTCATCAG | GAAAGACGACGTCACAGGCTACTTCCCGTCCATGTACCTG c.840
D G W W V I R | K D D V T G Y F P S M Y L p.280
. . . . . . g.15119
CAAAAGTCAGGGCAAGACGTGTCCCAGGCCCAACGCCAGATCAAGCGGGGGGCGCCGCCC c.900
Q K S G Q D V S Q A Q R Q I K R G A P P p.300
| 10 . . . . . . g.15649
CGCAG | GTCGTCCATCCGCAACGCGCACAGCATCCACCAGCGGTCGCGGAAGCGCCTCAGC c.960
R R | S S I R N A H S I H Q R S R K R L S p.320
. . . . . . g.15709
CAGGACGCCTATCGCCGCAACAGCGTCCGTTTTCTGCAGCAGCGACGCCGCCAGGCGCGG c.1020
Q D A Y R R N S V R F L Q Q R R R Q A R p.340
. . . | 11 . . . g.16103
CCGGGACCGCAGAGCCCCGGGAGCCCGCTCG | AGGAGGAGCGGCAGACGCAGCGCTCTAAA c.1080
P G P Q S P G S P L E | E E R Q T Q R S K p.360
. . . . . . g.16163
CCGCAGCCGGCGGTGCCCCCGCGGCCGAGCGCCGACCTCATCCTGAACCGCTGCAGCGAG c.1140
P Q P A V P P R P S A D L I L N R C S E p.380
. . . g.16196
AGCACCAAGCGGAAGCTGGCGTCTGCCGTCTGA c.1173
S T K R K L A S A V X p.390
. . . . . . g.16256
ggctggagcgcagtccccagctagcgtctcggcccttgccgccccgtgcctgtacatacg c.*60
. . . . . . g.16316
tgttctatagagcctggcgtctggacgccgagggcagccccgacccctgtccagcgcggc c.*120
. . . . . . g.16376
tcccgccaccctcaataaatgttgcttggagtggaccgaggctctgcaggaatgcaggga c.*180
. . . g.16412
gggccgggctccgccccagggttatttctaagttga c.*216
(downstream sequence)
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