(used for variant description)
(last modified February 2, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_007103.3 in the NDUFV1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering NDUFV1 transcript NM_007103.3.
(upstream sequence)
. . . g.5033
gaagttgaaggggcgcagcgataccggtgcgcg c.-121
. . . . . . g.5093
gcgctggcgtcgggcgcgtgacgtctttcctgcgcgccacctagcgtctctatcgcgcca c.-61
. . . . . . g.5153
gttcctcagcctcagtgctatgaaggtgacagcgtgaggtgacccatctggcccgccgcg c.-1
. . . . . . g.5213
ATGCTGGCAACACGGCGGCTGCTCGGCTGGTCGCTTCCCGCGCGGGTATCTGTGCGTTTC c.60
M L A T R R L L G W S L P A R V S V R F p.20
. | 02 . . . . . g.6592
AGCGGCGACACG | ACAGCACCCAAGAAAACCTCATTTGGCTCGCTGAAGGATGAAGACCGG c.120
S G D T | T A P K K T S F G S L K D E D R p.40
. . . | 03 . . . g.6725
ATTTTCACCAACCTGTACGGCCGCCATGACTGGAG | GCTGAAAGGTTCCCTGAGTCGAGGT c.180
I F T N L Y G R H D W R | L K G S L S R G p.60
. . . . . . g.6785
GACTGGTACAAGACAAAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATC c.240
D W Y K T K E I L L K G P D W I L G E I p.80
. . . . . . g.6845
AAGACATCGGGTTTGAGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGC c.300
K T S G L R G R G G A G F P T G L K W S p.100
. . | 04 . . . . g.7634
TTCATGAATAAGCCCTCAGATGGCAG | GCCCAAGTATCTGGTGGTGAACGCAGACGAGGGG c.360
F M N K P S D G R | P K Y L V V N A D E G p.120
. . . . . . g.7694
GAGCCGGGCACCTGCAAGGACCGGGAGATCTTACGCCATGATCCTCACAAGCTGCTGGAA c.420
E P G T C K D R E I L R H D P H K L L E p.140
. . . . . . g.7754
GGCTGCCTGGTGGGGGGCCGGGCCATGGGCGCCCGCGCTGCCTATATCTACATCCGAGGG c.480
G C L V G G R A M G A R A A Y I Y I R G p.160
. . . | 05 . . . g.8559
GAATTCTACAATGAGGCCTCCAATCTGCAG | GTGGCCATCCGAGAGGCCTATGAGGCAGGT c.540
E F Y N E A S N L Q | V A I R E A Y E A G p.180
. . . . . . g.8619
CTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGG c.600
L I G K N A C G S G Y D F D V F V V R G p.200
. . . . . . g.8679
GCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAG c.660
A G A Y I C G E E T A L I E S I E G K Q p.220
. . . . | 06 . . g.9163
GGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGG | GAGTGTTTGGCTGCCCCACA c.720
G K P R L K P P F P A D V G | V F G C P T p.240
. . . . . . g.9223
ACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACC c.780
T V A N V E T V A V S P T I C R R G G T p.260
. . . . . . g.9283
TGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGC c.840
W F A G F G R E R N S G T K L F N I S G p.280
. . . . . . g.9343
CATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATT c.900
H V N H P C T V E E E M S V P L K E L I p.300
. | 07 . . . . . g.9598
GAGAAGCATGCTG | GGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGC c.960
E K H A G | G V T G G W D N L L A V I P G p.320
. . . . . . g.9658
GGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGAT c.1020
G S S T P L I P K S V C E T V L M D F D p.340
. . . . . . g.9718
GCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCG c.1080
A L V Q A Q T G L G T A A V I V M D R S p.360
| 08 . . . . . . g.10105
| ACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGC c.1140
| T D I V K A I A R L I E F Y K H E S C G p.380
. . | 09 . . . . g.10306
CAGTGTACCCCATGCCGTGAGG | GTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTG c.1200
Q C T P C R E G | V D W M N K V M A R F V p.400
. . . . . . g.10366
AGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAA c.1260
R G D A R P A E I D S L W E I S K Q I E p.420
. . . . | 10 . g.10532
GGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAG | GGTCTGATCCGC c.1320
G H T I C A L G D G A A W P V Q | G L I R p.440
. . . . . . g.10592
CACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGG c.1380
H F R P E L E E R M Q R F A Q Q H Q A R p.460
. g.10607
CAGGCTGCCTCTTAG c.1395
Q A A S X p.464
. . . . . . g.10667
cccaccaccctggcctgctgtcctgcgtctatccatgtggaatgctggacaataaagcga c.*60
. . g.10690
gtgctgcccaccctccagctgcc c.*83
(downstream sequence)
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