(used for variant description)
(last modified May 13, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_021100.4 in the NFS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033237.1, covering NFS1 transcript NM_021100.4.
(upstream sequence)
. g.5017
agcgccgggcagcactt c.-61
. . . . . . g.5077
ccgggagcctggggcccaggactgcagcggcttcggaaggtgggctctgccagcgggacc c.-1
. . . . . . g.5137
ATGCTGCTCCGAGCCGCTTGGAGGCGGGCGGCAGTGGCGGTGACAGCGGCTCCAGGGCCG c.60
M L L R A A W R R A A V A V T A A P G P p.20
. . . | 02. . . g.5798
AAGCCCGCGGCGCCCACTCGGGGGCTGCGCCTGCGCG | TTGGAGACCGTGCTCCTCAGTCT c.120
K P A A P T R G L R L R V | G D R A P Q S p.40
. . . . . . g.5858
GCGGTTCCCGCAGATACAGCCGCTGCCCCGGAGGTGGGGCCAGTGCTGCGACCTCTCTAT c.180
A V P A D T A A A P E V G P V L R P L Y p.60
. . | 03. . . . g.6598
ATGGATGTGCAAGCTACAACTCCTCTG | GACCCCCGGGTGCTTGATGCCATGCTCCCTTAC c.240
M D V Q A T T P L | D P R V L D A M L P Y p.80
. . . . . . g.6658
CTAATCAACTACTATGGGAACCCACACTCCCGGACACATGCTTATGGCTGGGAGAGTGAG c.300
L I N Y Y G N P H S R T H A Y G W E S E p.100
. . | 04 . . . . g.7941
GCAGCCATGGAACGTGCTCGTCAG | CAAGTAGCATCTCTGATTGGAGCTGATCCTCGTGAG c.360
A A M E R A R Q | Q V A S L I G A D P R E p.120
. . . . | 05 . g.13812
ATCATTTTTACTAGTGGTGCTACTGAATCCAACAACATAGCAATTAAG | GGGGTGGCCCGA c.420
I I F T S G A T E S N N I A I K | G V A R p.140
. . . . . . g.13872
TTCTACAGGTCACGGAAAAAGCACTTGATCACCACCCAGACAGAACACAAATGTGTCTTG c.480
F Y R S R K K H L I T T Q T E H K C V L p.160
. . . . . . g.13932
GACTCCTGCCGTTCACTGGAAGCTGAGGGCTTTCAGGTCACCTACCTCCCAGTGCAGAAG c.540
D S C R S L E A E G F Q V T Y L P V Q K p.180
. . | 06 . . . . g.22423
AGTGGGATCATTGACCTAAAG | GAACTAGAGGCTGCTATCCAGCCAGATACTAGCCTGGTG c.600
S G I I D L K | E L E A A I Q P D T S L V p.200
. . . . . | 07 . g.23499
TCAGTCATGACTGTGAACAATGAGATTGGAGTGAAGCAGCCTATTGCAGAAATAG | GGCGG c.660
S V M T V N N E I G V K Q P I A E I G | R p.220
. . . . . . g.23559
ATTTGCAGTTCCAGAAAGGTATATTTCCATACTGATGCAGCCCAGGCTGTTGGAAAAATC c.720
I C S S R K V Y F H T D A A Q A V G K I p.240
. . . . . . g.23619
CCACTTGATGTCAATGACATGAAAATTGATCTCATGAGCATTAGTGGTCACAAAATCTAC c.780
P L D V N D M K I D L M S I S G H K I Y p.260
. | 08 . . . . . g.29213
GGTCCCAAAG | GGGTTGGTGCCATCTACATCCGTCGCCGGCCCCGTGTGCGTGTGGAGGCC c.840
G P K G | V G A I Y I R R R P R V R V E A p.280
. . . . . . g.29273
CTGCAGAGTGGAGGGGGGCAGGAGCGGGGTATGCGGTCTGGGACAGTGCCCACACCCTTA c.900
L Q S G G G Q E R G M R S G T V P T P L p.300
. . . . | 09 . g.29760
GTGGTGGGGCTGGGGGCTGCGTGTGAGGTGGCACAGCAAGAGATGGAG | TATGACCACAAG c.960
V V G L G A A C E V A Q Q E M E | Y D H K p.320
. . . . . . g.29820
CGAATCTCAAAGTTGTCAGAGCGGCTGATACAGAATATAATGAAGAGCCTTCCAGATGTG c.1020
R I S K L S E R L I Q N I M K S L P D V p.340
. . . | 10 . . . g.29960
GTGATGAATGGGGACCCTAAGCACCATTATCCCG | GCTGTATCAACCTCTCCTTTGCATAT c.1080
V M N G D P K H H Y P G | C I N L S F A Y p.360
. . . . . | 11 . g.30685
GTGGAAGGGGAAAGTCTGCTGATGGCACTGAAGGACGTTGCCTTATCCTCAGGGAG | TGCC c.1140
V E G E S L L M A L K D V A L S S G S | A p.380
. . . . . . g.30745
TGCACCTCTGCATCCCTGGAGCCCTCTTATGTGCTTAGAGCAATTGGCACTGATGAGGAT c.1200
C T S A S L E P S Y V L R A I G T D E D p.400
. . | 12 . . . . g.31561
TTAGCGCACTCTTCTATCAG | GTTTGGAATTGGCCGCTTCACTACAGAGGAGGAAGTGGAC c.1260
L A H S S I R | F G I G R F T T E E E V D p.420
. . . . . | 13 . g.34690
TACACAGTGGAGAAATGCATTCAGCATGTGAAGCGTCTTCGAGAAATGAG | CCCTCTCTGG c.1320
Y T V E K C I Q H V K R L R E M S | P L W p.440
. . . . . g.34744
GAGATGGTTCAGGATGGCATTGACCTCAAGAGCATCAAGTGGACCCAACACTAG c.1374
E M V Q D G I D L K S I K W T Q H X p.457
. . . . . . g.34804
aagaatagggccctgactttgtgctggtctggcccctcctgcctcaccaacccgtgcaca c.*60
. . . . . . g.34864
accagacaccttgttacacctagtggatgctctagattggtatagaccagttgacttcag c.*120
. . . . . . g.34924
catcagtccacctctatgacagaaacacaagaaaactgtctttccctagcttcagttcct c.*180
. . . . . . g.34984
tgggtgtggagcactccccatttcttctcgggtcttaaagtgtgtggacattttcatccc c.*240
. . . . . . g.35044
gaagccatagagacatttgctgtcatattgctgctgggcacatctgtgctcttggtgagg c.*300
. . . . . . g.35104
agagcaagaggaaccagaagaagtctctttggtcagggaccatgatgctctacatggaca c.*360
. . . . . . g.35164
tttgagtcttcgtcttctgctgctgctcggctggaccagcttctttaacagcaagcataa c.*420
. . . . . . g.35224
tccacttcaatgtaatattttctgtagctccaaaggctatctcttcatattgactgcaga c.*480
. . . . . . g.35284
cagactgaatggacagtttcttagagggcttgtctcctttctacccttgtcctctttcct c.*540
. . . . . . g.35344
ttcctttgacctaatggagctagaaatatgtctgtgactccaccagttattctaataatt c.*600
. . . . . . g.35404
tgttttcttgaaaattgttaatttcaagactggagaaataaactcaccttctatttactc c.*660
. . . . . . g.35464
tgtgactttatgagaggttgagggaaaagtggaagctgtacttgggaattgtggagaaga c.*720
. . . . . . g.35524
ccgccactccatctgatttgcataaatgactcagtgggcttttgtatctcttcatttaag c.*780
. . . . . . g.35584
aattatttgaatgcctgccaggagccagatttgttctgggtattaggaatacactggtta c.*840
. . . . . . g.35644
acaggaccaaaaaagaccctgccctcactgagttttaaattttagtggagagatggaaaa c.*900
. . . g.35678
taattaaacaaataaacaatgttatagattgtga c.*934
(downstream sequence)
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