(used for variant description)
(last modified February 25, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_133645.2 in the MTO1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering MTO1 transcript NM_133645.2.
(upstream sequence)
g.5004
gtag c.-121
. . . . . . g.5064
acgtcctaccccgtgatattaaagcaagatggccgcgccctgcagattgtctcttgttgc c.-61
. . . . . . g.5124
gtaagtttttttgaccgtcactcgtgtcagcttcaaagtcagatagatttttctcccagc c.-1
. . . . . . g.5184
ATGTTCTACTTCCGAGGCTGTGGCCGTTGGGTCGCGGTTTCCTTCACCAAGCAGCAATTT c.60
M F Y F R G C G R W V A V S F T K Q Q F p.20
. . . . . . g.5244
CCGTTGGCACGGTTGAGCAGTGACAGCGCGGCGCCCCGGACTCCGCACTTCGACGTGATA c.120
P L A R L S S D S A A P R T P H F D V I p.40
. . . . . . g.5304
GTCATTGGTGGAGGACATGCCGGGACTGAGGCAGCCACCGCCGCCGCTCGGTGCGGCTCT c.180
V I G G G H A G T E A A T A A A R C G S p.60
. . . | 02. . . g.9501
CGGACTCTGCTCCTCACTCACCGCGTGGACACGATCG | GTCAGATGTCATGTAATCCTTCC c.240
R T L L L T H R V D T I G | Q M S C N P S p.80
. . . . . . g.9561
TTTGGTGGCATCGGAAAGGGACATTTAATGAGGGAAGTAGATGCCTTGGATGGCCTGTGT c.300
F G G I G K G H L M R E V D A L D G L C p.100
. . . . . . g.9621
TCTCGCATCTGTGACCAGTCTGGTGTACATTATAAAGTATTAAACCGGCGTAAGGGACCA c.360
S R I C D Q S G V H Y K V L N R R K G P p.120
. . . . . | 03. g.9761
GCTGTGTGGGGTCTGAGAGCTCAGATTGATAGGAAACTCTATAAACAGAACATGCAG | AAA c.420
A V W G L R A Q I D R K L Y K Q N M Q | K p.140
. . . . . . g.9821
GAAATCTTGAATACACCACTGCTTACTGTTCAGGAGGGAGCTGTAGAAGATCTTATTCTT c.480
E I L N T P L L T V Q E G A V E D L I L p.160
. . . . . | 04 . g.16639
ACAGAACCAGAGCCTGAACACACTGGGAAATGCCGTGTCAGTGGGGTTGTTTTGG | TGGAT c.540
T E P E P E H T G K C R V S G V V L V | D p.180
. . . . . . g.16699
GGAAGCACAGTATATGCAGAGAGTGTGATTCTGACTACTGGGACATTTCTGAGAGGCATG c.600
G S T V Y A E S V I L T T G T F L R G M p.200
. . . . . . g.16759
ATTGTAATTGGATTGGAGACGCATCCAGCAGGACGTTTAGGGGATCAGCCTTCTATAGGA c.660
I V I G L E T H P A G R L G D Q P S I G p.220
. . . . . . g.16819
TTGGCTCAGACACTGGAGAAGTTAGGGTTTGTGGTGGGAAGGTTGAAGACTGGGACTCCA c.720
L A Q T L E K L G F V V G R L K T G T P p.240
. . . . . . g.16879
CCCCGAATTGCCAAAGAGTCCATTAATTTCAGTATTCTAAACAAGCATATACCGGACAAT c.780
P R I A K E S I N F S I L N K H I P D N p.260
. . . . | 05 . . g.23016
CCATCCATACCATTCAGCTTTACCAATGAGACAGTATGGATTAAG | CCAGAAGATCAGCTG c.840
P S I P F S F T N E T V W I K | P E D Q L p.280
. . . . . . g.23076
CCATGTTACTTGACTCACACCAACCCTAGAGTGGATGAGATTGTCCTTAAGAACCTTCAC c.900
P C Y L T H T N P R V D E I V L K N L H p.300
. . . | 06 . . g.23227
CTTAATAGTCATGTTAAAGAAACGACAAGAGGACCTCG | ATACTGTCCCTCCATTGAATCA c.960
L N S H V K E T T R G P R | Y C P S I E S p.320
. . . . . . g.23287
AAAGTTTTGCGTTTTCCAAACCGTCTACATCAGGTTTGGTTGGAACCTGAAGGAATGGAT c.1020
K V L R F P N R L H Q V W L E P E G M D p.340
. . . . . . g.23347
TCTGACCTTATCTACCCACAGGGGTTATCTATGACGCTACCAGCTGAGTTACAAGAGAAA c.1080
S D L I Y P Q G L S M T L P A E L Q E K p.360
. . . . | 07 . g.23573
ATGATCACATGCATCAGAGGCTTGGAGAAAGCTAAAGTGATTCAGCCAG | ACGGAGTTTTG c.1140
M I T C I R G L E K A K V I Q P D | G V L p.380
. . . . . . g.23633
CTCTTGTTGCCCAGGATGGAGTGCAATGGTGCGATCTCGGCTCACCACAACCTCCCCCTG c.1200
L L L P R M E C N G A I S A H H N L P L p.400
| 08 . . . . . . g.24000
CCAG | GCTACGGTGTTCAGTATGATTACTTAGATCCCCGTCAGATCACCCCTTCCTTGGAG c.1260
P G | Y G V Q Y D Y L D P R Q I T P S L E p.420
. . . . . . g.24060
ACTCATTTGGTTCAACGACTCTTCTTTGCTGGACAGATCAATGGCACCACTGGTTATGAG c.1320
T H L V Q R L F F A G Q I N G T T G Y E p.440
. | 09 . . . . . g.25354
GAAGCTGCAGCTCAA | GGTGTGATAGCCGGAATCAACGCCAGTCTTCGGGTCAGTCGCAAG c.1380
E A A A Q | G V I A G I N A S L R V S R K p.460
. . . . . . g.25414
CCTCCCTTTGTGGTTAGCCGAACAGAAGGTTACATAGGAGTCTTGATTGATGACCTCACT c.1440
P P F V V S R T E G Y I G V L I D D L T p.480
. . . . . . g.25474
ACTCTGGGCACCAGTGAACCATACCGCATGTTTACCAGCCGAGTAGAGTTCCGTTTGTCA c.1500
T L G T S E P Y R M F T S R V E F R L S p.500
. . . . | 10 . . g.25738
CTGCGCCCTGATAATGCTGACAGCCGGCTCACACTGCGAG | GGTATAAAGACGCTGGCTGT c.1560
L R P D N A D S R L T L R G | Y K D A G C p.520
. . . . . . g.25798
GTGTCCCAACAACGATATGAAAGAGCTTGTTGGATGAAGTCTTCTTTAGAAGAAGGCATT c.1620
V S Q Q R Y E R A C W M K S S L E E G I p.540
. . . . . . g.25858
TCTGTGTTGAAATCTATTGAGTTTTTGAGCTCTAAATGGAAAAAATTAATCCCAGAGGCT c.1680
S V L K S I E F L S S K W K K L I P E A p.560
. . . | 11 . . . g.35531
TCTATAAGTACTAGTAGAAGTCTGCCTGTCAG | AGCTCTCGATGTTCTGAAGTATGAGGAA c.1740
S I S T S R S L P V R | A L D V L K Y E E p.580
. . . . . . g.35591
GTTGACATGGATTCATTAGCCAAGGCTGTTCCAGAGCCCTTGAAGAAGTATACTAAATGT c.1800
V D M D S L A K A V P E P L K K Y T K C p.600
. . . | 12 . . . g.41034
AGAGAGCTGGCTGAAAGACTGAAAATAGAAG | CCACTTATGAATCAGTGTTGTTCCATCAA c.1860
R E L A E R L K I E A | T Y E S V L F H Q p.620
. . . . . . g.41094
CTACAAGAAATAAAGGGAGTTCAGCAAGATGAAGCTCTCCAACTGCCAAAAGACCTAGAT c.1920
L Q E I K G V Q Q D E A L Q L P K D L D p.640
. . . . . . g.41154
TATTTGACTATCAGGGATGTGTCTTTGTCCCATGAAGTTCGAGAGAAACTACATTTTAGT c.1980
Y L T I R D V S L S H E V R E K L H F S p.660
. | 13 . . . . . g.43891
CGTCCACAGACG | ATCGGGGCTGCTAGTCGCATACCCGGAGTAACACCTGCCGCCATCATC c.2040
R P Q T | I G A A S R I P G V T P A A I I p.680
. . . . . . g.43951
AATCTGCTGAGATTTGTGAAGACCACTCAACGAAGACAGTCGGCTATGAATGAATCATCC c.2100
N L L R F V K T T Q R R Q S A M N E S S p.700
. . . . . g.44005
AAGACTGATCAATACTTATGTGATGCAGACAGACTTCAAGAGAGAGAGTTATAG c.2154
K T D Q Y L C D A D R L Q E R E L X p.717
. . . . . . g.44065
ctttcaattcataaaagatttttaaagagcatataaataatttgatcaatacaacagtat c.*60
. . . . . . g.44125
agataaaagaattatttagcacatgttaaaatagctttattaggttactatgggtttgcc c.*120
. . . . . . g.44185
attaatttctgagtgggacagaaattataattgtgctttttcgtgtatatgaaaaaacta c.*180
. . . . . . g.44245
gtcgtaaacaatttgtactctttctttaaggagctgtaatacaaataactttgtgcagtg c.*240
. . . . . . g.44305
ttcatcaaagagagagacagtgaacctaaaactgaacctggaataaaactcaacatgcag c.*300
. . . . . . g.44365
atttgcctactcatagggactttgcctattaagtctaccaaattaaaagtcttatcattc c.*360
. . . . . . g.44425
agcgtgttttgagagttaataatcttttgcttggttatactaggctaggaagcaatatca c.*420
. . . . . . g.44485
aagcccttaaattctcaagactaaagacttgagattatataaaattatccagaatcattc c.*480
. . . . . . g.44545
agctaatactattggaatatagtatgtagggtgaaagttgacagaaatctgtacttcttc c.*540
. . . . . . g.44605
aggaaatcctcactggtaattgttttgaacattaatgaaagccctataaaatagaaagat c.*600
. . . . . . g.44665
tggaaatcaccattgtttcctattatccacagtgtggatggatacttatttggtgaccta c.*660
. . . . . . g.44725
gttatgggagaattgagtaacgttagttattttatatcataccataaaaatattttctta c.*720
g.44726
a c.*721
(downstream sequence)
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