(used for variant description)
(last modified January 24, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001136493.1 in the MFSD2A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_053084.1136493.1, covering MFSD2A transcript NM_001136493.1.
(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.8562
TGTGCCCTGGGTTTCTTCCTTCAGATCTACCTATTGGATGTGGCTCAG | AAGGATGAGGAA c.240
C A L G F F L Q I Y L L D V A Q | K D E E p.80
. . . . . . g.8622
GTTGTCTTTTGCTTCTCCTCATTCCAGGTGGGCCCTTTCTCTGCCTCCATCATCCTGTTT c.300
V V F C F S S F Q V G P F S A S I I L F p.100
. . . . . . g.8682
GTGGGCCGAGCCTGGGATGCCATCACAGACCCCCTGGTGGGCCTCTGCATCAGCAAATCC c.360
V G R A W D A I T D P L V G L C I S K S p.120
. . . | 04 . . . g.15127
CCCTGGACCTGCCTGGGTCGCCTTATGCCCTG | GATCATCTTCTCCACGCCCCTGGCCGTC c.420
P W T C L G R L M P W | I I F S T P L A V p.140
. . . . . . g.15187
ATTGCCTACTTCCTCATCTGGTTCGTGCCCGACTTCCCACACGGCCAGACCTATTGGTAC c.480
I A Y F L I W F V P D F P H G Q T Y W Y p.160
. . . | 05 . . . g.15383
CTGCTTTTCTATTGCCTCTTTGAAACAATGGTCACG | TGTTTCCATGTTCCCTACTCGGCT c.540
L L F Y C L F E T M V T | C F H V P Y S A p.180
. . . . . | 06 . g.15750
CTCACCATGTTCATCAGCACCGAGCAGACTGAGCGGGATTCTGCCACCGCCTATC | GGATG c.600
L T M F I S T E Q T E R D S A T A Y R | M p.200
. . . . . . g.15810
ACTGTGGAAGTGCTGGGCACAGTGCTGGGCACGGCGATCCAGGGACAAATCGTGGGCCAA c.660
T V E V L G T V L G T A I Q G Q I V G Q p.220
. . . . . . g.15870
GCAGACACGCCTTGTTTCCAGGACCTCAATAGCTCTACAGTAGCTTCACAAAGTGCCAAC c.720
A D T P C F Q D L N S S T V A S Q S A N p.240
. . . | 07 . . . g.16516
CATACACATGGCACCACCTCACACAGGGAAACG | CAAAAGGCATACCTGCTGGCAGCGGGG c.780
H T H G T T S H R E T | Q K A Y L L A A G p.260
. . . . . . g.16576
GTCATTGTCTGTATCTATATAATCTGTGCTGTCATCCTGATCCTGGGCGTGCGGGAGCAG c.840
V I V C I Y I I C A V I L I L G V R E Q p.280
| 08 . . . . . . g.16755
AGAG | AACCCTATGAAGCCCAGCAGTCTGAGCCAATCGCCTACTTCCGGGGCCTACGGCTG c.900
R E | P Y E A Q Q S E P I A Y F R G L R L p.300
. . . . . . g.16815
GTCATGAGCCACGGCCCATACATCAAACTTATTACTGGCTTCCTCTTCACCTCCTTGGCT c.960
V M S H G P Y I K L I T G F L F T S L A p.320
| 09 . . . . . . g.17028
TTCATG | CTGGTGGAGGGGAACTTTGTCTTGTTTTGCACCTACACCTTGGGCTTCCGCAAT c.1020
F M | L V E G N F V L F C T Y T L G F R N p.340
. . . | 10 . . . g.17546
GAATTCCAGAATCTACTCCTGGCCATCATG | CTCTCGGCCACTTTAACCATTCCCATCTGG c.1080
E F Q N L L L A I M | L S A T L T I P I W p.360
. . . . . | 11 . g.17698
CAGTGGTTCTTGACCCGGTTTGGCAAGAAGACAGCTGTATATGTTGGGATCTCA | TCAGCA c.1140
Q W F L T R F G K K T A V Y V G I S | S A p.380
. . . . . . g.17758
GTGCCATTTCTCATCTTGGTGGCCCTCATGGAGAGTAACCTCATCATTACATATGCGGTA c.1200
V P F L I L V A L M E S N L I I T Y A V p.400
. . . . | 12. . g.18235
GCTGTGGCAGCTGGCATCAGTGTGGCAGCTGCCTTCTTACTACCCTG | GTCCATGCTGCCT c.1260
A V A A G I S V A A A F L L P W | S M L P p.420
. . . . . . g.18295
GATGTCATTGACGACTTCCATCTGAAGCAGCCCCACTTCCATGGAACCGAGCCCATCTTC c.1320
D V I D D F H L K Q P H F H G T E P I F p.440
. . . . . . g.18355
TTCTCCTTCTATGTCTTCTTCACCAAGTTTGCCTCTGGAGTGTCACTGGGCATTTCTACC c.1380
F S F Y V F F T K F A S G V S L G I S T p.460
. | 13 . . . . . g.18506
CTCAGTCTGGA | CTTTGCAGGGTACCAGACCCGTGGCTGCTCGCAGCCGGAACGTGTCAAG c.1440
L S L D | F A G Y Q T R G C S Q P E R V K p.480
. . . . . . g.18566
TTTACACTGAACATGCTCGTGACCATGGCTCCCATAGTTCTCATCCTGCTGGGCCTGCTG c.1500
F T L N M L V T M A P I V L I L L G L L p.500
. . . . . . g.18626
CTCTTCAAAATGTACCCCATTGATGAGGAGAGGCGGCGGCAGAATAAGAAGGCCCTGCAG c.1560
L F K M Y P I D E E R R R Q N K K A L Q p.520
| 14 . . . . . g.19445
GCACTGAG | GGACGAGGCCAGCAGCTCTGGCTGCTCAGAAACAGACTCCACAGAGCTGGCT c.1620
A L R | D E A S S S G C S E T D S T E L A p.540
. g.19457
AGCATCCTCTAG c.1632
S I L X p.543
. . . . . . 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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