(used for variant description)
(last modified June 11, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005006.6 in the NDUFS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009248.1, covering NDUFS1 transcript NM_005006.6.
(upstream sequence)
g.4947
gga c.-181
. . . . . . g.5007
aattgccgacaaacttgtcgaatgcaaggattctagtccctccgggctttccgttctcca c.-121
. . . . . . g.5067
ggcccggctgacagagttagccgaggccgccatattgaataagcgacccggcctcctagg c.-61
. . . . . . | 02 g.10785
gggtcgtcgtggtccagacagtttagcagaacagcctccgcggctccggggagaag | caat c.-1
. . . . . . g.10845
ATGTTAAGGATACCTGTAAGAAAGGCCTTAGTAGGCCTTTCTAAGTCTCCTAAAGGATGT c.60
M L R I P V R K A L V G L S K S P K G C p.20
| 03 . . . . . . g.12012
G | TTCGAACAACTGCCACAGCAGCAAGCAACTTGATTGAAGTATTTGTTGATGGTCAGTCT c.120
V | R T T A T A A S N L I E V F V D G Q S p.40
. . . | 04 . . . g.14565
GTCATGGTGGAACCGGGAACGACCGTCCTCCAA | GCTTGTGAGAAGGTTGGCATGCAGATC c.180
V M V E P G T T V L Q | A C E K V G M Q I p.60
. . . . . . g.14625
CCTCGATTCTGTTATCATGAAAGGTTGTCTGTTGCTGGAAACTGCAGGATGTGCCTTGTT c.240
P R F C Y H E R L S V A G N C R M C L V p.80
. . | 05 . . . . g.15406
GAAATTGAGAAAGCCCCTAAG | GTTGTAGCTGCTTGTGCCATGCCAGTAATGAAGGGTTGG c.300
E I E K A P K | V V A A C A M P V M K G W p.100
. . . | 06 . . g.16651
AATATCCTAACAAACTCAGAAAAATCCAAAAAAGCCAG | GGAAGGTGTGATGGAGTTCTTA c.360
N I L T N S E K S K K A R | E G V M E F L p.120
. . . . . . g.16711
TTAGCAAATCACCCATTGGACTGTCCTATTTGTGACCAGGGAGGTGAATGTGATCTGCAG c.420
L A N H P L D C P I C D Q G G E C D L Q p.140
| 07 . . . . . . g.16862
| GACCAGTCCATGATGTTTGGAAATGATAGGAGCCGATTTTTAGAGGGGAAGCGTGCTGTG c.480
| D Q S M M F G N D R S R F L E G K R A V p.160
. . . . . . g.16922
GAAGACAAGAACATTGGGCCATTGGTAAAGACCATCATGACAAGATGTATACAGTGTACT c.540
E D K N I G P L V K T I M T R C I Q C T p.180
. | 08 . . . . . g.17424
CGCTGCATCAG | GTTTGCAAGTGAGATTGCAGGAGTAGATGATTTGGGAACAACAGGCAGA c.600
R C I R | F A S E I A G V D D L G T T G R p.200
. . . . . . g.17484
GGAAATGATATGCAAGTTGGCACATACATTGAAAAGATGTTCATGTCTGAACTGTCTGGG c.660
G N D M Q V G T Y I E K M F M S E L S G p.220
. . . . . . g.17544
AATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCCTTTACTGCC c.720
N I I D I C P V G A L T S K P Y A F T A p.240
. | 09. . . . . g.19480
CGGCCTTGGGAAACAAG | AAAGACAGAATCCATTGATGTAATGGATGCGGTTGGAAGTAAT c.780
R P W E T R | K T E S I D V M D A V G S N p.260
. . . . . . g.19540
ATTGTGGTTAGCACAAGAACTGGAGAAGTGATGAGGATTTTGCCACGTATGCATGAGGAC c.840
I V V S T R T G E V M R I L P R M H E D p.280
. . . | 10 . . . g.20359
ATCAATGAAGAGTGGATCTCTGATAAAACCAG | ATTTGCCTATGATGGGCTAAAACGTCAA c.900
I N E E W I S D K T R | F A Y D G L K R Q p.300
. . . . . . g.20419
AGACTTACCGAGCCAATGGTCAGAAATGAAAAAGGGCTTTTAACCTATACTTCTTGGGAG c.960
R L T E P M V R N E K G L L T Y T S W E p.320
. . | 11. . . . g.21665
GATGCGCTCTCTCGCGTAGCTGGAATG | TTGCAGAGTTTTCAAGGCAAAGATGTGGCAGCA c.1020
D A L S R V A G M | L Q S F Q G K D V A A p.340
. . . . . . g.21725
ATTGCAGGTGGCTTGGTGGATGCTGAAGCCCTGGTAGCTCTCAAAGATTTGCTTAATAGA c.1080
I A G G L V D A E A L V A L K D L L N R p.360
. . . . . | 12 . g.22401
GTGGACTCTGACACCTTATGCACTGAAGAGGTCTTCCCCACTGCAGGAGCTGG | CACAGAT c.1140
V D S D T L C T E E V F P T A G A G | T D p.380
. . . . . . g.22461
TTGCGTTCCAATTATCTTCTTAATACTACAATTGCTGGTGTGGAAGAGGCAGATGTTGTT c.1200
L R S N Y L L N T T I A G V E E A D V V p.400
. . . . . . g.22521
CTTCTGGTTGGTACAAACCCACGTTTTGAGGCACCACTGTTTAATGCTAGAATTCGAAAG c.1260
L L V G T N P R F E A P L F N A R I R K p.420
| 13 . . . . . . g.25907
AG | CTGGCTGCATAATGACTTAAAAGTGGCCCTTATAGGCAGTCCAGTGGACCTCACTTAC c.1320
S | W L H N D L K V A L I G S P V D L T Y p.440
. . . . . . g.25967
ACATATGACCACCTGGGAGACTCCCCCAAAATTCTTCAAGACATTGCTTCGGGAAGCCAT c.1380
T Y D H L G D S P K I L Q D I A S G S H p.460
. | 14 . . . . . g.31406
CCATTTAGCCAG | GTCCTAAAGGAAGCTAAAAAACCAATGGTGGTTTTAGGCAGTTCTGCA c.1440
P F S Q | V L K E A K K P M V V L G S S A p.480
. . . . . . g.31466
CTCCAAAGAAATGATGGAGCAGCAATTCTTGCAGCTGTTTCTAGCATTGCACAAAAGATT c.1500
L Q R N D G A A I L A A V S S I A Q K I p.500
. . . . . | 15 . g.34228
CGGATGACTAGTGGTGTTACTGGTGATTGGAAAGTTATGAATATCCTTCATAG | GATTGCA c.1560
R M T S G V T G D W K V M N I L H R | I A p.520
. . . . . . g.34288
AGTCAAGTAGCTGCTTTGGACCTTGGCTATAAGCCTGGGGTGGAAGCAATTCGGAAGAAC c.1620
S Q V A A L D L G Y K P G V E A I R K N p.540
. . . . . . g.34348
CCTCCCAAGGTGCTGTTTCTCCTGGGAGCAGATGGAGGTTGTATCACACGACAGGATTTG c.1680
P P K V L F L L G A D G G C I T R Q D L p.560
. . | 16 . . . g.36523
CCAAAGGATTGTTTCATTATTTATCAAG | GACATCATGGTGATGTTGGGGCTCCCATAGCT c.1740
P K D C F I I Y Q G | H H G D V G A P I A p.580
. . . . . . g.36583
GATGTTATTCTCCCAGGAGCTGCTTACACAGAGAAGTCTGCTACATATGTCAACACTGAG c.1800
D V I L P G A A Y T E K S A T Y V N T E p.600
. . . . . . g.36643
GGTAGAGCTCAGCAGACTAAGGTAGCAGTGACACCTCCTGGCTTGGCAAGAGAAGACTGG c.1860
G R A Q Q T K V A V T P P G L A R E D W p.620
. . | 17 . . . . g.37655
AAAATTATAAGAGCACTCTCTGAG | ATTGCTGGAATGACTCTTCCATATGATACTCTGGAT c.1920
K I I R A L S E | I A G M T L P Y D T L D p.640
. . . . . . g.37715
CAAGTAAGGAACAGATTGGAAGAAGTCTCTCCTAATCTTGTTCGATATGATGATATTGAA c.1980
Q V R N R L E E V S P N L V R Y D D I E p.660
. . . | 18 . . g.37873
GGGGCTAATTACTTCCAGCAAGCAAATGAGCTCTCAAAG | CTAGTGAACCAGCAGCTTCTT c.2040
G A N Y F Q Q A N E L S K | L V N Q Q L L p.680
. . . . . | 19 . g.40195
GCTGACCCACTTGTTCCACCTCAGCTAACTATAAAAGACTTCTACATGACAG | ATTCAATT c.2100
A D P L V P P Q L T I K D F Y M T D | S I p.700
. . . . . . g.40255
AGCAGAGCCTCACAGACAATGGCCAAATGTGTCAAAGCTGTCACAGAGGGTGCCCAGGCA c.2160
S R A S Q T M A K C V K A V T E G A Q A p.720
. . g.40279
GTAGAGGAACCATCCATATGCTGA c.2184
V E E P S I C X p.727
. . . . . . g.40339
agcttctactaggatcccagttttgccgcagataattaatggacaactgtagtgcagtga c.*60
. . . . . . g.40399
tcctttacaggtttatttctttgtaaaaaaaaataataataatttgaatcatgtaatatt c.*120
. . . . . . g.40459
taaggttatactatgcctatttgaaaatgatattagttatcaactttgcagtttgaaaaa c.*180
. . . . . . g.40519
catgtattgtgtgtaaaggttaaataacaaaactatgcagatgctcttaaaagcattgat c.*240
. . . . . . g.40579
aacctttgtgacgaacataaagagatccttaaattatgagttgttggcttatcttcataa c.*300
. . . . . . g.40639
ataatttgtctgtaaaatggatgaaatgaaaagaggttcaattaaaacctacttttttct c.*360
. . . . . . g.40699
agtgctaaagaaaagatttaagcaccttgtcaagctgggtaaataggaaaaatacataat c.*420
. . . . . . g.40759
catgctcagatatgtatctaggataattataattaataataatcatagtaacaatggcta c.*480
. . . . . . g.40819
atgataatttagctttattatatgtgctaagcactctggttttacatgcattatcttctt c.*540
. . . . . . g.40879
ttgttcttgctacaaccctgtgagatagtagtattatctcattttactgatgaagactga c.*600
. . . . . . g.40939
agcctaggtatattaaatagcttgcccaaggccacacagcaaaagtcaccaactcaaacc c.*660
. . . . . . g.40999
tacttcttatttactccaaagcctgttgttcttaactgcaacatattatttcgtctcatt c.*720
. . . . . . g.41059
aatgttgattctataggttgttacttctaaaaattagtattgagtttaatggtgaacaca c.*780
. . . . . . g.41119
tttttctattttctcttgaatctgcttctataatgtcatggtgatttatgtggctttttt c.*840
. . . . . . g.41179
ttttttataagttatacatgtatgcatgtatacttatgagacctcccttggaatgaggga c.*900
. . . . . . g.41239
ggtctcaagagatataatttagattctcattgatgttctgtattcattatcctaacacca c.*960
. . . . . . g.41299
tctgtagtgttaaatcaactaaattatttcagcaataggagacaaaacaaccagctttca c.*1020
. . . . . . g.41359
taatttttaattgtcaaaaccaaaaggaatcagaataaggatcactgagaatttaaaaaa c.*1080
. . g.41385
ataaaaaaggaagtaaaaattttaca c.*1106
(downstream sequence)
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