(used for variant description)
(last modified June 11, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_003321.4 in the TUFM gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008964.1, covering TUFM transcript NM_003321.4.
(upstream sequence)
. g.5019
agacactggcggctagagg c.-121
. . . . . . g.5079
ggcccggacttgccctcccagctctaacttccgccggaagtgccttccagccgcaggcgc c.-61
. . . . . . g.5139
ccttcttcttctgtgcgctcgggctcctggtcccggctccccggttaccggggcgcgagt c.-1
. . . . . | 02 . g.5310
ATGACCACAATGGCGGCCGCCACCCTGCTGCGCGCGACGCCCCACTTCAGCG | GTCTCGCC c.60
M T T M A A A T L L R A T P H F S G | L A p.20
. . . . . . g.5370
GCCGGCCGGACCTTCCTGCTGCAGGGTCTGTTGCGGCTGCTGAAAGCCCCGGCATTGCCT c.120
A G R T F L L Q G L L R L L K A P A L P p.40
. . . . . . g.5430
CTCTTGTGCCGCGGCCTGGCCGTGGAGGCCAAGAAGACTTACGTGCGCGACAAGCCACAT c.180
L L C R G L A V E A K K T Y V R D K P H p.60
. . . . . . g.5490
GTGAATGTGGGTACCATCGGCCATGTGGACCACGGGAAGACCACGCTGACTGCAGCCATC c.240
V N V G T I G H V D H G K T T L T A A I p.80
| 03. . . . . . g.5981
ACGAAGA | TTCTAGCTGAGGGAGGTGGGGCTAAGTTCAAGAAGTACGAGGAGATTGACAAT c.300
T K I | L A E G G G A K F K K Y E E I D N p.100
. . . . . . g.6041
GCCCCGGAGGAGCGAGCTCGGGGTATCACCATCAATGCGGCTCATGTGGAGTATAGCACT c.360
A P E E R A R G I T I N A A H V E Y S T p.120
. . . . . | 04 . g.6359
GCCGCCCGCCACTACGCCCACACAGACTGCCCGGGTCATGCAGATTATGTTAAG | AATATG c.420
A A R H Y A H T D C P G H A D Y V K | N M p.140
. . . . . . g.6419
ATCACAGGCACTGCACCCCTCGACGGCTGCATCCTGGTGGTAGCAGCCAATGACGGCCCC c.480
I T G T A P L D G C I L V V A A N D G P p.160
. . . | 05 . . g.6567
ATGCCCCAGACCCGAGAGCACTTATTACTGGCCAGACAG | ATTGGGGTGGAGCATGTGGTG c.540
M P Q T R E H L L L A R Q | I G V E H V V p.180
. . . . . . g.6627
GTGTATGTGAACAAGGCTGACGCTGTCCAGGACTCTGAGATGGTGGAACTGGTGGAACTG c.600
V Y V N K A D A V Q D S E M V E L V E L p.200
. . . . . . g.6687
GAGATCCGGGAGCTGCTCACCGAGTTTGGCTATAAAGGGGAGGAGACCCCAGTCATCGTA c.660
E I R E L L T E F G Y K G E E T P V I V p.220
. . | 06 . . . . g.6893
GGCTCTGCTCTCTGTGCCCTTGAG | GGTCGGGACCCTGAGTTAGGCCTGAAGTCTGTGCAG c.720
G S A L C A L E | G R D P E L G L K S V Q p.240
. . . . . . g.6953
AAGCTACTGGATGCTGTGGACACTTACATCCCAGTGCCCGCCCGGGACCTGGAGAAGCCT c.780
K L L D A V D T Y I P V P A R D L E K P p.260
. . . | 07. . . g.7097
TTCCTGCTGCCTGTGGAGGCGGTGTACTCCGTCCCTG | GCCGTGGCACCGTGGTGACAGGT c.840
F L L P V E A V Y S V P G | R G T V V T G p.280
. . . . . . g.7157
ACACTAGAGCGTGGCATTTTAAAGAAGGGAGACGAGTGTGAGCTCCTAGGACATAGCAAG c.900
T L E R G I L K K G D E C E L L G H S K p.300
. . | 08 . . . . g.7345
AACATCCGCACTGTGGTGACAG | GCATTGAGATGTTCCACAAGAGCCTGGAGAGGGCCGAG c.960
N I R T V V T G | I E M F H K S L E R A E p.320
. . . . . . g.7405
GCCGGAGATAACCTCGGGGCCCTGGTCCGAGGCTTGAAGCGGGAGGACTTGCGGCGGGGC c.1020
A G D N L G A L V R G L K R E D L R R G p.340
. . . . . | 09 . g.7559
CTGGTCATGGTCAAGCCAGGTTCCATCAAGCCCCACCAGAAGGTGGAGGCCCAG | GTTTAC c.1080
L V M V K P G S I K P H Q K V E A Q | V Y p.360
. . . . . . g.7619
ATCCTCAGCAAGGAGGAAGGTGGCCGCCACAAGCCCTTTGTGTCCCACTTCATGCCTGTC c.1140
I L S K E E G G R H K P F V S H F M P V p.380
. . . . . | 10 . g.8266
ATGTTCTCCCTGACTTGGGACATGGCCTGTCGGATTATCCTGCCCCCAGAGAAG | GAGCTT c.1200
M F S L T W D M A C R I I L P P E K | E L p.400
. . . . . . g.8326
GCCATGCCCGGGGAGGACCTGAAGTTCAACCTAATCTTGCGGCAGCCAATGATCTTAGAG c.1260
A M P G E D L K F N L I L R Q P M I L E p.420
. . . . . . g.8386
AAAGGCCAGCGTTTCACCCTGCGAGATGGCAACCGGACTATTGGCACCGGTCTAGTCACC c.1320
K G Q R F T L R D G N R T I G T G L V T p.440
. . . . g.8434
AACACGCTGGCCATGACTGAGGAGGAGAAGAATATCAAATGGGGTTGA c.1368
N T L A M T E E E K N I K W G X p.455
. . . . . . g.8494
gtgtgcagatctctgctcagcttcccttgcgtttaaggcctgccctagccagggctccct c.*60
. . . . . . g.8554
cctgcttccagtaccctctcatggcataggctgcaacccagcagagggcagctagatgga c.*120
. . . . . . g.8614
catttcccctgctcggaagggttggcctgcctggctggggaggtcagtaaactttgaata c.*180
. . . . . . g.8674
gtaagccagcctgtgtcctgtgtcctttgtgcaaattggagaggataggggaggacaaaa c.*240
. . . . . . g.8734
agggtgttgaaccccagacagatggggagcttgtgagatcccagagcagttttaacggat c.*300
. . . . . . g.8794
aaatcaagtccagtgagcttagtgattgcctagacacagtaggatgccgttattcagcct c.*360
. . . . . . g.8854
cctgggagatagtgggaaagaatgttctatcgctctggagccagcatggcttcagctcag c.*420
. . . . . . g.8914
gtgccaaacccatcttgtttcctcggaatactaagtgaatgtctagcatccattcacatt c.*480
. . . . . . g.8974
ctgtgggaacagggactggacaggcatacctcagatgctgtaggtttgcttccagactac c.*540
. . g.8998
cacaataaagcaggtcacaaattt c.*564
(downstream sequence)
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