(used for variant description)
(last modified April 3, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_152778.2 in the MFSD8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008657.1, covering MFSD8 transcript NM_152778.2.
(upstream sequence)
. . . . g.5043
gcaggcgccgttggggtgcgcatccggggacctgcaggttaca c.-121
. . . . . | 02 . g.5791
agcagcagatcccaccttcagtcctggctctgacaagccctccag | cttcacgccacccgg c.-61
. . . . . . g.5851
gatgggagaaagcaggtgtcgcgagagttgggcgcaagacgccttgtagggagtgtaact c.-1
. . . . . . g.5911
ATGGCCGGCCTGCGGAACGAAAGTGAACAGGAGCCGCTCTTAGGCGACACACCTGGAAGC c.60
M A G L R N E S E Q E P L L G D T P G S p.20
| 03 . . . . . . g.13450
AG | AGAATGGGACATTTTAGAGACTGAAGAGCATTATAAGAGCCGATGGAGATCTATTAGG c.120
R | E W D I L E T E E H Y K S R W R S I R p.40
. . . | 04 . . . g.21163
ATTTTATATCTTACTATGTTTCTCAGCAGTGTAG | GGTTTTCTGTAGTGATGATGTCCATA c.180
I L Y L T M F L S S V G | F S V V M M S I p.60
. | 05 . . . . g.27034
TGGCCATATCTCCAAAAG | ATTGATCCGACAGCTGATACAAGTTTTTTGGGCTGGGTTATT c.240
W P Y L Q K | I D P T A D T S F L G W V I p.80
. . . . . . g.27094
GCTTCATATAGTCTTGGCCAAATGGTAGCTTCACCTATATTTGGTTTATGGTCTAATTAT c.300
A S Y S L G Q M V A S P I F G L W S N Y p.100
. . . . . . g.27154
AGACCAAGAAAAGAGCCTCTTATTGTCTCCATCTTGATTTCCGTGGCAGCCAACTGCCTC c.360
R P R K E P L I V S I L I S V A A N C L p.120
. . . . . . g.27214
TATGCATATCTCCACATCCCAGCTTCTCATAATAAATACTACATGCTGGTTGCTCGTGGA c.420
Y A Y L H I P A S H N K Y Y M L V A R G p.140
. | 06 . . . . g.28867
TTGTTGGGAATTGGAGCAG | GAAATGTAGCAGTTGTTAGATCATATACTGCTGGTGCTACT c.480
L L G I G A G | N V A V V R S Y T A G A T p.160
. . . . . . g.28927
TCCCTTCAGGAAAGAACAAGTTCCATGGCAAACATAAGCATGTGTCAAGCATTAGGTTTT c.540
S L Q E R T S S M A N I S M C Q A L G F p.180
. | 07 . . . . . g.31034
ATTCTAGGTCCAG | TTTTTCAGACTTGTTTTACATTCCTTGGAGAAAAAGGTGTGACATGG c.600
I L G P V | F Q T C F T F L G E K G V T W p.200
. . . . . . g.31094
GATGTGATTAAACTGCAGATAAACATGTATACAACACCAGTTTTACTTAGCGCCTTCCTG c.660
D V I K L Q I N M Y T T P V L L S A F L p.220
. . . | 08 . . g.32168
GGAATTTTAAATATTATTCTGATCCTTGCCATACTAAG | AGAACATCGTGTGGATGACTCA c.720
G I L N I I L I L A I L R | E H R V D D S p.240
. . . | 09 . . . g.37917
GGAAGACAGTGTAAAAGTATTAATTTTGAAGAAG | CAAGTACAGATGAAGCTCAGGTTCCC c.780
G R Q C K S I N F E E A | S T D E A Q V P p.260
. . . . . . g.37977
CAAGGAAATATTGACCAGGTTGCTGTTGTGGCCATCAATGTTCTGTTTTTTGTGACTCTA c.840
Q G N I D Q V A V V A I N V L F F V T L p.280
. . | 10 . . . . g.40204
TTTATCTTTGCCCTTTTTGAAAC | CATCATTACTCCATTAACAATGGATATGTATGCCTGG c.900
F I F A L F E T | I I T P L T M D M Y A W p.300
. . . . . . g.40264
ACTCAAGAACAAGCTGTGTTATATAATGGCATAATACTTGCTGCTCTTGGGGTTGAAGCC c.960
T Q E Q A V L Y N G I I L A A L G V E A p.320
. . . | 11 . . g.49043
GTTGTTATTTTCTTAGGAGTTAAGTTGCTTTCCAAAAA | GATTGGCGAGCGTGCTATTCTA c.1020
V V I F L G V K L L S K K | I G E R A I L p.340
. . . . . . g.49103
CTGGGAGGACTCATCGTTGTATGGGTTGGCTTCTTTATCTTGTTACCTTGGGGAAATCAA c.1080
L G G L I V V W V G F F I L L P W G N Q p.360
. . | 12 . . . . g.49251
TTTCCCAAAATACAGTGGGAAG | ATTTGCACAATAATTCAATCCCTAATACCACATTTGGG c.1140
F P K I Q W E D | L H N N S I P N T T F G p.380
. . . . . . g.49311
GAAATTATTATTGGTCTTTGGAAGTCTCCAATGGAAGATGACAATGAAAGACCAACTGGT c.1200
E I I I G L W K S P M E D D N E R P T G p.400
. . . . . . g.49371
TGCTCGATTGAACAAGCCTGGTGCCTCTACACCCCGGTGATTCATCTGGCCCAGTTCCTT c.1260
C S I E Q A W C L Y T P V I H L A Q F L p.420
. . . . . . g.49431
ACATCAGCTGTGCTAATAGGATTAGGCTATCCAGTCTGCAATCTTATGTCCTATACTCTA c.1320
T S A V L I G L G Y P V C N L M S Y T L p.440
. . . | 13 . . . g.50178
TATTCAAAAATTCTAGGACCAAAACCTCAG | GGTGTATACATGGGCTGGTTAACAGCATCT c.1380
Y S K I L G P K P Q | G V Y M G W L T A S p.460
. . . . . . g.50238
GGAAGTGGAGCCCGGATTCTTGGGCCTATGTTCATCAGCCAAGTGTATGCTCACTGGGGA c.1440
G S G A R I L G P M F I S Q V Y A H W G p.480
. . . . . . g.50298
CCACGATGGGCATTCAGCCTGGTGTGTGGAATAATAGTGCTCACCATCACCCTCCTGGGA c.1500
P R W A F S L V C G I I V L T I T L L G p.500
. . . . . g.50355
GTGGTTTACAAAAGACTCATTGCTCTTTCTGTAAGATATGGGAGGATTCAGGAATAA c.1557
V V Y K R L I A L S V R Y G R I Q E X p.518
. . . . . . g.50415
actagctaagactgtgatggaaactacttgctgtgtggcacttcctggtctaaagctctg c.*60
. . . . . . g.50475
ctagacaattgcggtgagccagtctccaagaatcagactacagatattgcagattttgaa c.*120
. . . . . . g.50535
gaacaagaacatatgttgaataacagagagaattctacatgtcattgtgaatagtaggtt c.*180
. . . . . . g.50595
atataaaaacatactagatgataatttccttacctcagaaatgaaatattattcttataa c.*240
. . . . . . g.50655
tacctttttgtggttgcatgaactaatgagtgaatggacaatgatgaataaatgtgaagc c.*300
. . . . . . g.50715
tgtattcttaatacccactgcagaagtgtcattaaaataatatacagtggaaccagaaag c.*360
. . . . . . g.50775
agggttctgtaagaattagccatagcagaacaaaattatagaattttaaatacctctacc c.*420
. . . . . . g.50835
caagtagaggtatttttattcagacacctactttttatttataaaaaaatgcattttcta c.*480
. . . . . . g.50895
ttatcaagttcacttatgaaataaaaattataacacatattttccatttagcgtgcctaa c.*540
. . . . . . g.50955
catcctaccttgccttctatgagtctttcttctaatactacacctctgccttattttagt c.*600
. . . . . . g.51015
tcagggtttcactaagtaacccctacattaataaatgagtatggataatgctaatatttg c.*660
. . . . . . g.51075
agcaatacagaggattaagagatcaagatacttcactgcctattagcctaatagggatac c.*720
. . . . . . g.51135
ctactttctttcaaatgccaaaaattcacattagaaacataatccagatatgtgttattt c.*780
. . . . . . g.51195
tatatatatatatacaaaacagtaaatggtttcttaaaattattgctatttttcaacccc c.*840
. . . . . . g.51255
cttaaactggagaaaaacatttaattagtaaaacattaattaatttactttaatttttcc c.*900
. . . . . . g.51315
catctctcagtagtggcggggaggaacacaacagttttcaatctatgtctgcatagttgt c.*960
. . . . . . g.51375
gtagagctgcagaattttagttggatttttaatttggatgatccctgacagccccaaact c.*1020
. . . . . . g.51435
agtcaggctaataagtatttgaggcaaaatggctttaatctaacaatttactgagtttac c.*1080
. . . . . . g.51495
ctgaagttggctaaataacactgtatgtttaacttctacctctacataagttgaatgctg c.*1140
. . . . . . g.51555
ataaaaggaactagtagataactatgtatattgataagcactgttaagaaaatgcaaaaa c.*1200
. . . . . . g.51615
tatttctaaacacttttccaaatgttttctactttaagttagaaatagtttcaaatctga c.*1260
. . . . . . g.51675
gaataaacactatataatctgcactttataggttgggtgcagtgtctcatgcctgtaatc c.*1320
. . . . . . g.51735
ccagcactttggaaggccaaggcaggaggattgcttgaggccaggaattcaagaccagcc c.*1380
. . . . . . g.51795
tgggaaacaaagtgagaccctgtctttacaaaaaataaaaacaaaaatttaaaactgtat c.*1440
. . . . . . g.51855
aatctgcactttatgctaaactagctgtgctcttaaactcaattttttcagctctaataa c.*1500
. . . . . . g.51915
agggcttaatttgatagaattattctacgattaaattttgaagactgttttcactctcct c.*1560
. . . . . . g.51975
ctgccgcccatagcaagactgcttccatagatttctcagaaccgtagccagttctggcta c.*1620
. . . . . . g.52035
tttggtcaagtctgggatccctcttacctgctattctgcagctgctttctctgtcttaca c.*1680
. . . . . . g.52095
ttttttgggccacgtctaatcttaaagagtaaactctacccttggtttgcatagtgtgca c.*1740
. . . . . . g.52155
tgacaaaaataacaagaataatggtaatgatgaaaatgataagagcaaaatttgtggagt c.*1800
. . . . . . g.52215
gctttccacattccaggtaatgtgtaacatacaatttaattcttacagcagtcttatgga c.*1860
. . . . . . g.52275
gtgaaaatactattatgattcccgttttacagatgaaagaatggaggcacagaaaagtta c.*1920
. . . . . . g.52335
cttgtctaagtaacagtctatccttaaagtccacagtcttaaccacttgatttttcatag c.*1980
. . . . . . g.52395
tgaggaaaatatcccagaaagttgcagtttcaattaatcactaattgtagggtaatttaa c.*2040
. . . . . . g.52455
ctataccagtgagtcctactagcagaaatatttgggcaacataagcccactgactggagc c.*2100
. . . . . . g.52515
ttttgtcttagcataataacctgtttccagcaagaatataacagaaaaaagtttcccagc c.*2160
. . . . . . g.52575
tttcaaaggtttataatattgattaaaatttagataaacttaaccttacacaaatgactc c.*2220
. . . . . . g.52635
ttactttcctttttattgagagcattttctttggagcattttcttctttggaggattata c.*2280
. . . . . . g.52695
ccttgctcatcttggcacaaaagaaggcgaaaggaagtaacatgggattgggaaaagagc c.*2340
. . . . . . g.52755
aaggagataaagtttgaggaaaaaaaatcaccatgttgatgtcttcttgagtaggccaag c.*2400
. . . . . . g.52815
ttgcgtataaagagaaaatgacaacaggagattttaaggtatgatatattgttaagagta c.*2460
. . . . . . g.52875
gtacatatttaagaagagaaaatatgtttttgaaaacaaatttaaacttgaaaggatgat c.*2520
. . . . . . g.52935
tttcatattttgaagggatttataacttcacaaagcatctccattctatcttgttcagct c.*2580
. . . . . . g.52995
ttacatttaaaaataaactcttcttgttcatataaaccttatctcttacataaagtgaaa c.*2640
. . . . . . g.53055
tctgttaattttttgttttgacaaggataaactacttacctgcatctgtttaagaataga c.*2700
. . . . . . g.53115
ttaacttattttgagaagaaattctgggcaccatttttgaccattgaagacttatttgta c.*2760
. . . . . . g.53175
atttaatttctactttacattgtgaatgttcattttctaataaacaagattattttgcat c.*2820
g.53180
atgta c.*2825
(downstream sequence)
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