(used for variant description)
(last modified December 17, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_032793.3 in the MFSD2A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering MFSD2A transcript NM_032793.3.
(upstream sequence)
g.5001
a c.-181
. . . . . . g.5061
gaactataagaggcgcggagggggcgtgcagcagagtgcgttcctcgtctgccagccggc c.-121
. . . . . . g.5121
ttggctagcgcgcggcggccgtggctaaggctgctacgaagcgagcttgggaggagcagc c.-61
. . . . . . g.5181
ggcctgcggggcagaggagcatcccgtctaccaggtcccaagcggcgtggcccgcgggtc c.-1
. . . . . . g.5241
ATGGCCAAAGGAGAAGGCGCCGAGAGCGGCTCCGCGGCGGGGCTGCTACCCACCAGCATC c.60
M A K G E G A E S G S A A G L L P T S I p.20
. . . | 02 . . . g.7002
CTCCAAAGCACTGAACGCCCGGCCCAGGTGAAG | AAAGAACCGAAAAAGAAGAAACAACAG c.120
L Q S T E R P A Q V K | K E P K K K K Q Q p.40
. . . . . . g.7062
TTGTCTGTTTGCAACAAGCTTTGCTATGCACTTGGGGGAGCCCCCTACCAGGTGACGGGC c.180
L S V C N K L C Y A L G G A P Y Q V T G p.60
. . . . | 03 . g.8601
TGTGCCCTGGGTTTCTTCCTTCAGATCTACCTATTGGATGTGGCTCAG | GTGGGCCCTTTC c.240
C A L G F F L Q I Y L L D V A Q | V G P F p.80
. . . . . . g.8661
TCTGCCTCCATCATCCTGTTTGTGGGCCGAGCCTGGGATGCCATCACAGACCCCCTGGTG c.300
S A S I I L F V G R A W D A I T D P L V p.100
. . . . . | 04 . g.15106
GGCCTCTGCATCAGCAAATCCCCCTGGACCTGCCTGGGTCGCCTTATGCCCTG | GATCATC c.360
G L C I S K S P W T C L G R L M P W | I I p.120
. . . . . . g.15166
TTCTCCACGCCCCTGGCCGTCATTGCCTACTTCCTCATCTGGTTCGTGCCCGACTTCCCA c.420
F S T P L A V I A Y F L I W F V P D F P p.140
. . . . . | 05. g.15362
CACGGCCAGACCTATTGGTACCTGCTTTTCTATTGCCTCTTTGAAACAATGGTCACG | TGT c.480
H G Q T Y W Y L L F Y C L F E T M V T | C p.160
. . . . . . g.15422
TTCCATGTTCCCTACTCGGCTCTCACCATGTTCATCAGCACCGAGCAGACTGAGCGGGAT c.540
F H V P Y S A L T M F I S T E Q T E R D p.180
. | 06 . . . . . g.15789
TCTGCCACCGCCTATC | GGATGACTGTGGAAGTGCTGGGCACAGTGCTGGGCACGGCGATC c.600
S A T A Y R | M T V E V L G T V L G T A I p.200
. . . . . . g.15849
CAGGGACAAATCGTGGGCCAAGCAGACACGCCTTGTTTCCAGGACCTCAATAGCTCTACA c.660
Q G Q I V G Q A D T P C F Q D L N S S T p.220
. . . . . | 07 . g.16495
GTAGCTTCACAAAGTGCCAACCATACACATGGCACCACCTCACACAGGGAAACG | CAAAAG c.720
V A S Q S A N H T H G T T S H R E T | Q K p.240
. . . . . . g.16555
GCATACCTGCTGGCAGCGGGGGTCATTGTCTGTATCTATATAATCTGTGCTGTCATCCTG c.780
A Y L L A A G V I V C I Y I I C A V I L p.260
. . | 08 . . . . g.16734
ATCCTGGGCGTGCGGGAGCAGAGAG | AACCCTATGAAGCCCAGCAGTCTGAGCCAATCGCC c.840
I L G V R E Q R E | P Y E A Q Q S E P I A p.280
. . . . . . g.16794
TACTTCCGGGGCCTACGGCTGGTCATGAGCCACGGCCCATACATCAAACTTATTACTGGC c.900
Y F R G L R L V M S H G P Y I K L I T G p.300
. . | 09. . . . g.17007
TTCCTCTTCACCTCCTTGGCTTTCATG | CTGGTGGAGGGGAACTTTGTCTTGTTTTGCACC c.960
F L F T S L A F M | L V E G N F V L F C T p.320
. . . . . | 10 . g.17525
TACACCTTGGGCTTCCGCAATGAATTCCAGAATCTACTCCTGGCCATCATG | CTCTCGGCC c.1020
Y T L G F R N E F Q N L L L A I M | L S A p.340
. . . . . . g.17585
ACTTTAACCATTCCCATCTGGCAGTGGTTCTTGACCCGGTTTGGCAAGAAGACAGCTGTA c.1080
T L T I P I W Q W F L T R F G K K T A V p.360
. | 11 . . . . . g.17737
TATGTTGGGATCTCA | TCAGCAGTGCCATTTCTCATCTTGGTGGCCCTCATGGAGAGTAAC c.1140
Y V G I S | S A V P F L I L V A L M E S N p.380
. . . . . . g.17797
CTCATCATTACATATGCGGTAGCTGTGGCAGCTGGCATCAGTGTGGCAGCTGCCTTCTTA c.1200
L I I T Y A V A V A A G I S V A A A F L p.400
| 12 . . . . . g.18274
CTACCCTG | GTCCATGCTGCCTGATGTCATTGACGACTTCCATCTGAAGCAGCCCCACTTC c.1260
L P W | S M L P D V I D D F H L K Q P H F p.420
. . . . . . g.18334
CATGGAACCGAGCCCATCTTCTTCTCCTTCTATGTCTTCTTCACCAAGTTTGCCTCTGGA c.1320
H G T E P I F F S F Y V F F T K F A S G p.440
. . . | 13 . . . g.18485
GTGTCACTGGGCATTTCTACCCTCAGTCTGGA | CTTTGCAGGGTACCAGACCCGTGGCTGC c.1380
V S L G I S T L S L D | F A G Y Q T R G C p.460
. . . . . . g.18545
TCGCAGCCGGAACGTGTCAAGTTTACACTGAACATGCTCGTGACCATGGCTCCCATAGTT c.1440
S Q P E R V K F T L N M L V T M A P I V p.480
. . . . . . g.18605
CTCATCCTGCTGGGCCTGCTGCTCTTCAAAATGTACCCCATTGATGAGGAGAGGCGGCGG c.1500
L I L L G L L L F K M Y P I D E E R R R p.500
. . | 14 . . . g.19424
CAGAATAAGAAGGCCCTGCAGGCACTGAG | GGACGAGGCCAGCAGCTCTGGCTGCTCAGAA c.1560
Q N K K A L Q A L R | D E A S S S G C S E p.520
. . . g.19457
ACAGACTCCACAGAGCTGGCTAGCATCCTCTAG c.1593
T D S T E L A S I L X p.530
. . . . . . g.19517
ggcccgccacgttgcccgaagccaccatgcagaaggccacagaagggatcaggacctgtc c.*60
. . . . . . g.19577
tgccggcttgctgagcagctggactgcaggtgctaggaagggaactgaagactcaaggag c.*120
. . . . . . g.19637
gtggcccaggacacttgctgtgctcactgtggggccggctgctctgtggcctcctgcctc c.*180
. . . . . . g.19697
ccctctgcctgcctgtggggccaagccctggggctgccactgtgaatatgccaaggactg c.*240
. . . . . . g.19757
atcgggcctagcccggaacactaatgtagaaacctttttttttacagagcctaattaata c.*300
. . . . . . g.19817
acttaatgactgtgtacatagcaatgtgtgtgtatgtatatgtctgtgagctattaatgt c.*360
. . g.19845
tattaattttcataaaagctggaaagca c.*388
(downstream sequence)
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