(used for variant description)
(last modified September 23, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_139242.3 in the MTFMT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering MTFMT transcript NM_139242.3.
(upstream sequence)
. . g.5026
agggccggccgccggcggccgaggcg c.-1
. . . . . . g.5086
ATGAGGGTGTTGGTGCGGCGCTGTTGGGGTCCTCCGCTGGCTCATGGCGCCAGGCGTGGG c.60
M R V L V R R C W G P P L A H G A R R G p.20
. . . . . . g.5146
AGGCCGAGTCCCCAGTGGCGAGCACTGGCCCGACTCGGCTGGGAGGACTGCCGGGACTCC c.120
R P S P Q W R A L A R L G W E D C R D S p.40
. . . . . . g.5206
AGAGTCCGCGAGAAGCCTCCCTGGCGGGTGCTCTTCTTCGGCACGGACCAGTTCGCCCGC c.180
R V R E K P P W R V L F F G T D Q F A R p.60
. . | 02 . . . g.7630
GAGGCGCTGCGGGCGCTGCACGCCGCCAG | GGAAAACAAAGAAGAAGAGTTAATCGACAAA c.240
E A L R A L H A A R | E N K E E E L I D K p.80
. . . . . . g.7690
CTGGAGGTGGTCACAATGCCTTCCCCATCACCAAAAGGACTGCCAGTGAAGCAATATGCT c.300
L E V V T M P S P S P K G L P V K Q Y A p.100
. . . . . . g.7750
GTGCAGTCTCAGCTTCCCGTATATGAGTGGCCGGATGTGGGATCTGGAGAATATGATGTT c.360
V Q S Q L P V Y E W P D V G S G E Y D V p.120
. . . . . | 03 g.10846
GGAGTAGTGGCTTCGTTTGGCCGACTTTTGAATGAGGCTCTTATTCTTAAATTTCCCTA | T c.420
G V V A S F G R L L N E A L I L K F P Y | p.140
. . . . . . g.10906
GGCATATTGAATGTTCATCCCAGTTGCCTCCCGAGATGGCGTGGCCCAGCCCCTGTAATC c.480
G I L N V H P S C L P R W R G P A P V I p.160
. . . . . . g.10966
CATACAGTGCTTCACGGAGACACAGTTACTGGAGTAACAATTATGCAAATTAGACCTAAA c.540
H T V L H G D T V T G V T I M Q I R P K p.180
| 04 . . . . . . g.13081
AG | GTTTGATGTAGGCCCAATTCTCAAACAAGAAACTGTTCCTGTGCCACCCAAGAGCACT c.600
R | F D V G P I L K Q E T V P V P P K S T p.200
. . . . | 05 . . g.14382
GCAAAGGAATTGGAAGCAGTGTTGTCAAGACTGGGTGCCAACATG | CTCATTTCAGTTTTG c.660
A K E L E A V L S R L G A N M | L I S V L p.220
. . . . . . g.14442
AAAAATTTGCCTGAAAGTCTGAGCAATGGAAGGCAGCAGCCAATGGAGGGGGCGACTTAC c.720
K N L P E S L S N G R Q Q P M E G A T Y p.240
| 06 . . . . . . g.18171
G | CCCCTAAGATTTCTGCTGGTACCAGTTGTATAAAATGGGAGGAACAAACTTCAGAACAA c.780
A | P K I S A G T S C I K W E E Q T S E Q p.260
. . . | 07 . . . g.28475
ATATTCAGACTTTACCGTGCCATTGGAAATATA | ATTCCGTTGCAGACGCTCTGGATGGCG c.840
I F R L Y R A I G N I | I P L Q T L W M A p.280
. . . . . | 08 . g.29711
AATACCATTAAACTTCTGGATTTGGTAGAAGTTAACAGTTCAGTCCTTGCTG | ATCCAAAA c.900
N T I K L L D L V E V N S S V L A D | P K p.300
. . . . . . g.29771
TTAACGGGACAGGCTCTTATTCCAGGATCAGTAATATACCACAAACAGTCACAAATACTA c.960
L T G Q A L I P G S V I Y H K Q S Q I L p.320
. | 09 . . . . . g.31428
TTGGTTTATTGCAAG | GATGGTTGGATTGGTGTTCGATCAGTGATGCTCAAGAAATCACTA c.1020
L V Y C K | D G W I G V R S V M L K K S L p.340
. . . . . . g.31488
ACAGCTACTGACTTCTACAATGGATATTTGCACCCCTGGTACCAGAAAAATTCCCAAGCT c.1080
T A T D F Y N G Y L H P W Y Q K N S Q A p.360
. . . . . . g.31548
CAACCAAGCCAATGCAGATTTCAGACTCTCAGACTTCCAACAAAGAAGAAGCAGAAAAAA c.1140
Q P S Q C R F Q T L R L P T K K K Q K K p.380
. . . g.31578
ACTGTTGCTATGCAACAATGCATTGAGTAG c.1170
T V A M Q Q C I E X p.389
. . . . . . g.31638
ttaggaagaagatggataaaaacctattacatatttgtaatttattaaaaaccttattta c.*60
. . . . . . g.31698
caaggaattatctggacttttttttttttttttttttttgagacagagtctcactctgtc c.*120
. . . . . . g.31758
acccaggctggaatccagtggcactatctcagctcactgcaacctccgcctcccaggttc c.*180
. . . . . . g.31818
aagcaattctcctgcctcagcctcctgagtagctgggattacaggcacacgccaccacac c.*240
. . . . . . g.31878
gcagctaatttttgtatttttagtagagatggggtttcaccatgttggtcaggctggtct c.*300
. . . . . . g.31938
cgaactcctgaccttgtgatctgcccacctcagcctcccaaagtgctatgattacagacg c.*360
. . . . . . g.31998
tgagccaccgtgcctggcctggaattatctggactttcaaagaagatggcattattataa c.*420
. . . . . . g.32058
gaagagaagattattgccgaaaagatggattgcctcactttccactttttatgtaacagt c.*480
. . . . . . g.32118
agttaaaaaacagctttttttttacttgaattacaaaaaagtttaaataaaacttgtatt c.*540
. . . . . . g.32178
tatgatacgaaactcaaggagattatctttccttaagaacaagggcaaccctaactggtg c.*600
. . . . . . g.32238
tatgtatgtacctacatacatactgagaagaggttttttgtttttatttttatttttttg c.*660
. . . . . . g.32298
agacggagtcttgttctgtggcccaggctggagtgcagtggcgtgatgtcagctcactgc c.*720
. . . . . . g.32358
aagctccacctcccgggttcacaccattctcctgcctcagcctcccaagtagctgggact c.*780
. . . . . . g.32418
acaggcgtccgccaccatgcctggctaatttttttttttgtatttttagtagagatgggg c.*840
. . . . . . g.32478
tttcactgtgttagccaggatggtcttgatctcctgacctcgtgatccacccgccttggc c.*900
. . . . . . g.32538
ctcccaaagtgctgggattacagctgtgagccaccgtgcctggccgagaagaggtttttt c.*960
. . . . . . g.32598
taaaaacagtgcatctatttaattttttaaaaatcgtgtcaccactgacattttaggagt c.*1020
. . . . . . g.32658
attgaatctgcattttttatttcctataagtagtaaatccagctctttacatttcactac c.*1080
. . . . . . g.32718
cagctagatttaaccaagtagtaaacgtaggtaatatttaataatctctgccacattgat c.*1140
. . . . . . g.32778
ctgtactataaattaacattttacatccagattttatttttttttattaatttttttaga c.*1200
. . . . . . g.32838
gatggggtcttgctctctcacacagtctggagtccagtggcgtgaaacactgcttactgc c.*1260
. . . . . . g.32898
atcttcaacctcctgggcttaagtgatcctccagcctcagcctcccaaagtggggccacc c.*1320
. . . . . . g.32958
acgcctggctaattttctttcttagtttttaaaaaaaattttgtagagataggggtctca c.*1380
. . . . . . g.33018
ctatgttgcttaggctggtcttgaactcctgggcccaagcaatcctcctgccttggcctc c.*1440
. . . . . . g.33078
tcaaagtgctgggattacaagcatgaaccactgcacccggcccaggttttcttgaagtag c.*1500
. . . . . g.33128
gaacgtgctaacatttttcaacttacttgtgcaataaaggttattgagca c.*1550
(downstream sequence)
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