(used for variant description)
(last modified February 2, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_004550.4 in the NDUFS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering NDUFS2 transcript NM_004550.4.
(upstream sequence)
. . g.5028
gccccaggagaggcagagagtgagggaa c.-421
. . . . . . g.5088
agggcctggccggcatgcacagataggatcacggtcctgggagaattcctgctcttatag c.-361
. . . . . . g.5148
tctaacctaccatggcttctcttttctcaaggctccctcatgctgccctttggccctagt c.-301
. . . . . . g.5208
ggctggtttccagggctgaggggactgagtgagctgcctgagaaaagagggtagggaaca c.-241
. | 02 . . . . . g.7891
g | aaaagccagccaggagctgtgggaggaaacgccctcagtaaagatgaccgcggtcactg c.-181
. . . . . . g.7951
ttatctaaacgcaagtgaagccgagtcacaggacccggatgttgtcagttcgacggtaaa c.-121
. . . . . . g.8011
cgaccctgccagcttccaagagggcggcttcactgtgcgaataggtgagaagccaagaag c.-61
. . . . . . g.8071
gaggcgcgctggagttacttccgcccggttctccttcccgcagtctgcagccggagtaag c.-1
. . . . . . g.8131
ATGGCGGCGCTGAGGGCTTTGTGCGGCTTCCGGGGCGTCGCGGCCCAGGTGCTGCGGCCT c.60
M A A L R A L C G F R G V A A Q V L R P p.20
. . . | 03 . . . g.9147
GGGGCTGGAGTCCGATTGCCGATTCAGCCCAGCAG | AGGTGTTCGGCAGTGGCAGCCAGAT c.120
G A G V R L P I Q P S R | G V R Q W Q P D p.40
. . . . . . g.9207
GTGGAATGGGCACAGCAGTTTGGGGGAGCTGTTATGTACCCAAGCAAAGAAACAGCCCAC c.180
V E W A Q Q F G G A V M Y P S K E T A H p.60
. . | 04 . . . . g.12130
TGGAAGCCTCCACCTTGGAATG | ATGTGGACCCTCCAAAGGACACAATTGTGAAGAACATT c.240
W K P P P W N D | V D P P K D T I V K N I p.80
. . . . . . g.12190
ACCCTGAACTTTGGGCCCCAACACCCAGCAGCGCATGGTGTCCTGCGACTAGTGATGGAA c.300
T L N F G P Q H P A A H G V L R L V M E p.100
. . . . . . g.12250
TTGAGTGGGGAGATGGTGCGGAAGTGTGATCCTCACATCGGGCTCCTGCACCGAGGCACT c.360
L S G E M V R K C D P H I G L L H R G T p.120
. . . | 05 . . . g.14905
GAGAAGCTCATTGAATACAAGACCTATCTTCAG | GCCCTTCCATACTTTGACCGGCTAGAC c.420
E K L I E Y K T Y L Q | A L P Y F D R L D p.140
. . . . . . g.14965
TATGTGTCCATGATGTGTAACGAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAAC c.480
Y V S M M C N E Q A Y S L A V E K L L N p.160
. . . | 06 . . . g.15194
ATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAG | TGCTGTTTGGAGAAATCACACGTTTG c.540
I R P P P R A Q W I R V | L F G E I T R L p.180
. . . . . . g.15254
TTGAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTC c.600
L N H I M A V T T H A L D L G A M T P F p.200
. . | 07. . . . g.15575
TTCTGGCTGTTTGAAGAAAGGGAGAAG | ATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCC c.660
F W L F E E R E K | M F E F Y E R V S G A p.220
. . . . | 08 . . g.15814
CGAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAG | GACCTACCCCTTGGGCTT c.720
R M H A A Y I R P G G V H Q | D L P L G L p.240
. . . . . . g.15874
ATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAG c.780
M D D I Y Q F S K N F S L R L D E L E E p.260
| 09 . . . . . . g.16049
| TTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCA c.840
| L L T N N R I W R N R T I D I G V V T A p.280
. . | 10 . . . . g.16310
GAAGAAGCACTTAACTATGGTTTTAG | TGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGG c.900
E E A L N Y G F S | G V M L R G S G I Q W p.300
. . . . . . g.16370
GACCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTT c.960
D L R K T Q P Y D V Y D Q V E F D V P V p.320
. . | 11 . . . . g.18070
GGTTCTCGAGGGGACTGCTATGATAG | GTACCTGTGCCGGGTGGAGGAGATGCGCCAGTCC c.1020
G S R G D C Y D R | Y L C R V E E M R Q S p.340
. . . . . . g.18130
CTGAGAATTATCGCACAGTGTCTAAACAAGATGCCTCCTGGGGAGATCAAGGTTGATGAT c.1080
L R I I A Q C L N K M P P G E I K V D D p.360
. . . | 12 . . . g.19089
GCCAAAGTGTCTCCACCTAAGCGAGCAGAGATGAAG | ACTTCCATGGAGTCACTGATTCAT c.1140
A K V S P P K R A E M K | T S M E S L I H p.380
. . . . . . g.19149
CACTTTAAGTTGTATACTGAGGGCTACCAAGTTCCTCCAGGAGCCACATATACTGCCATT c.1200
H F K L Y T E G Y Q V P P G A T Y T A I p.400
. | 13 . . . . . g.19382
GAGGCTCCCAAG | GGAGAGTTTGGGGTGTACCTGGTGTCTGATGGCAGCAGCCGCCCTTAT c.1260
E A P K | G E F G V Y L V S D G S S R P Y p.420
. . . | 14 . . . g.19573
CGATGCAAGATCAAGGCTCCTGGTTTTGCCCATCTG | GCTGGTTTGGACAAGATGTCTAAG c.1320
R C K I K A P G F A H L | A G L D K M S K p.440
. . . | 15 . . . g.19867
GGACACATGTTGGCAGATGTCGTTGCCATCATAG | GTACCCAAGATATTGTATTTGGAGAA c.1380
G H M L A D V V A I I G | T Q D I V F G E p.460
. g.19879
GTAGATCGGTGA c.1392
V D R X p.463
. . . . . . g.19939
gcaggggagcagcgtttgatcccccctgcctatcagcttcttctgtggagcctgttcctc c.*60
. . . . . . g.19999
actggaaattggcctctgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtatgttcatgtaca c.*120
. . . . . . g.20059
cttggctgtcaggctttctgtgcatgtactaaaaaaggagaaattataataaattagccg c.*180
. . g.20081
tcttgcggcccctaggcctaaa c.*202
(downstream sequence)
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