(used for variant description)
(last modified August 10, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_024120.4 in the NDUFAF5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015811.1, covering NDUFAF5 transcript NM_024120.4.
(upstream sequence)
. . . . g.5043
gcatgcgcacaaaaagcgccggcaattggggtcgcagctggag c.-1
. . . . . . g.5103
ATGCTGCGGCCGGCAGGGCTCTGGCGCTTATGTCGGCGACCTTGGGCGGCGAGGGTCCCA c.60
M L R P A G L W R L C R R P W A A R V P p.20
. . . . . . g.5163
GCGGAGAATCTTGGCCGTAGGGAAGTCACCTCTGGTGTCTCTCCCCGCGGTAGCACCTCG c.120
A E N L G R R E V T S G V S P R G S T S p.40
. . . . . . g.5223
CCCAGAACCCTGAATATTTTCGACCGGGATTTGAAAAGGAAACAGAAGAACTGGGCAGCC c.180
P R T L N I F D R D L K R K Q K N W A A p.60
. . . . | 02 . . g.7304
CGGCAGCCCGAGCCGACCAAATTTGACTACCTGAAGGAGGAG | GTTGGAAGTCGGATCGCA c.240
R Q P E P T K F D Y L K E E | V G S R I A p.80
. . | 03 . . . . g.8600
GACCGTGTATATGACATACCCAG | AAATTTCCCCCTTGCTTTGGATCTTGGTTGTGGAAGA c.300
D R V Y D I P R | N F P L A L D L G C G R p.100
. . | 04. . . . g.13187
GGTTACATTGCACAATATTTGAATAAG | GAAACTATTGGAAAGTTTTTCCAAGCTGACATT c.360
G Y I A Q Y L N K | E T I G K F F Q A D I p.120
. | 05 . . . . . g.14857
GCAGAAAATGCTTTG | AAAAATTCCTCAGAAACAGAAATACCTACTGTCAGCGTTTTAGCT c.420
A E N A L | K N S S E T E I P T V S V L A p.140
. . . . . | 06 g.18436
GATGAAGAATTCCTTCCCTTCAAAGAAAATACATTTGACCTGGTGGTTAGCAGTTTAAG | T c.480
D E E F L P F K E N T F D L V V S S L S | p.160
. . . | 07 . . g.21481
TTGCATTGGGTGAATGACCTTCCTAGAGCACTTGAGCAG | ATTCATTATATTTTAAAACCA c.540
L H W V N D L P R A L E Q | I H Y I L K P p.180
. . . . . . g.21541
GATGGAGTGTTTATCGGTGCAATGTTTGGAGGCGACACACTCTATGAACTTCGGTGTTCC c.600
D G V F I G A M F G G D T L Y E L R C S p.200
. . . . . . g.21601
TTACAGTTAGCGGAAACGGAAAGGGAAGGAGGATTTTCTCCACACATTTCTCCTTTCACT c.660
L Q L A E T E R E G G F S P H I S P F T p.220
. . . . . | 08. g.28819
GCTGTCAATGACCTGGGACATCTGCTTGGGAGAGCTGGCTTTAATACTCTGACTGTG | GAC c.720
A V N D L G H L L G R A G F N T L T V | D p.240
. . . . . | 09 g.36439
ACTGATGAAATTCAAGTTAACTATCCTGGAATGTTTGAATTGATGGAAGATTTACAAG | GT c.780
T D E I Q V N Y P G M F E L M E D L Q G | p.260
. . . . . . g.36499
ATGGGTGAGAGTAACTGTGCTTGGAATAGAAAAGCCCTGCTGCATCGAGACACAATGCTG c.840
M G E S N C A W N R K A L L H R D T M L p.280
. . | 10 . . . . g.36887
GCAGCTGCGGCAGTGTACAGAG | AAATGTACAGAAATGAAGATGGTTCAGTACCTGCTACA c.900
A A A A V Y R E | M Y R N E D G S V P A T p.300
. . . . | 11 . . g.37107
TACCAGATCTATTACATGATAGGATGGAAATATCATGAGTCACAG | GCAAGACCAGCTGAA c.960
Y Q I Y Y M I G W K Y H E S Q | A R P A E p.320
. . . . . . g.37167
AGAGGTTCCGCAACTGTGTCATTTGGAGAGCTAGGAAAAATAAACAACCTTATGCCACCG c.1020
R G S A T V S F G E L G K I N N L M P P p.340
. g.37185
GGGAAAAAATCACAATAA c.1038
G K K S Q X p.345
. . . . . . g.37245
atatttattcagtgttaatgtcgtccagaattttcatcagaaatggatagctttaacatc c.*60
. . . . . . g.37305
taaaattattatattttgaagcaagaagcactctaagctatttactaataggcttttcat c.*120
. . . . . . g.37365
ataattaggaaaacctaatatcacatctatagtaaccatttcagtttcatattgtttctg c.*180
. . . . . . g.37425
ttctcataaggatactgctgagtgtctttgcagattcagcctaaaagcaaagaaaatatt c.*240
. . . . . . g.37485
tccctaaaatatttgcaaataatgttcacatatgtaaatgccttggaaaatattactcat c.*300
. . . . . . g.37545
gctgaccttttacacctttttcatttgtcatactgttttctttgccttgaagaggaacag c.*360
. . . . . . g.37605
atgaatatgcaccttctccagagttatgtggttttagaatttagaagagcatgtatcttt c.*420
. . . . . . g.37665
attaaatccctcctcaactctttttttttaaagcatctgaatttaaccttatttcttttt c.*480
. . . . . . g.37725
tatctccatggtgtgggtgggaccaccatggttttacaccccaccctaccttagggaaga c.*540
. . . . . . g.37785
agaaaacattttaaagaataccagaagtagaatcacatgtaacagtctctgcacagtcat c.*600
. . . . . . g.37845
cagtttattgttaagctttcctttgtaatttcagggcttaagcactattatcctaatcca c.*660
. . . . . . g.37905
agttcacagtcctgttgttgtcgaggagggttcaaaatcatttggagataatcaagctca c.*720
. . . . . . g.37965
gacagcttaggataggtgagaagaacatagaggaagcagggagaaggctgagaagcaagc c.*780
. . . . . . g.38025
aggagtgagcgctaagtgttttgtttccagttagctgttcgctgtcttttccatttaacc c.*840
. . . . . . g.38085
tgggcactgccctagcctcatcttcagccttcagtgatctataatagcatttccttctgt c.*900
. . . . . . g.38145
ctcctctcagtctctcttctgccttccttccctcctttactgtattagcaacaagctgtc c.*960
. . . . . . g.38205
catgggtgggggctgtgtgttagcctgtacgtagcacatgggactttccacatagtagat c.*1020
. . . . . . g.38265
attcagttacattttgaactaattatataacaaacttgccctttgaaagactaagttata c.*1080
. . . . . . g.38325
gttaaaaaccaagatttgtaggagaaaaagaaattattgttcccttcagtttgaaaaatc c.*1140
. . . . . . g.38385
atcgatatttgaaactgggatacgcttggtagcttttttgttttaacacaaagtaaacct c.*1200
. g.38396
gtgaagtagaa c.*1211
(downstream sequence)
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