(used for mutation description)
(last modified November 26, 2010)
This file was created to facilitate the description of sequence variants in the MTM1 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008199.1, covering MTM1 transcript NM_000252.2.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. g.5016
agagggggcggagcag c.-61
. . . . . | 02 g.29030
ggcccggcagccgagcagcctggcaacggcggtggcgcccggagcccgag | agtttccagg c.-1
. . . . . . g.29090
ATGGCTTCTGCATCAACTTCTAAATATAATTCACACTCCTTGGAGAATGAGTCTATTAAG c.60
M A S A S T S K Y N S H S L E N E S I K p.20
| 03 . . . . . . g.32972
AGG | ACGTCTCGAGATGGAGTCAATCGAGATCTCACTGAGGCTGTTCCTCGACTTCCAGGA c.120
R | T S R D G V N R D L T E A V P R L P G p.40
. | 04 . . . . . g.35053
GAAACACTAATCACTG | ACAAAGAAGTTATTTACATATGTCCTTTCAATGGCCCCATTAAG c.180
E T L I T D | K E V I Y I C P F N G P I K p.60
. . . . . | 05 . g.51024
GGAAGAGTTTACATCACAAATTATCGTCTTTATTTAAGAAGTTTGGAAACG | GATTCTTCT c.240
G R V Y I T N Y R L Y L R S L E T | D S S p.80
. . . . . . g.51084
CTAATACTTGATGTTCCTCTGGGTGTGATCTCGAGAATTGAAAAAATGGGAGGCGCGACA c.300
L I L D V P L G V I S R I E K M G G A T p.100
. . . . | 06 . . g.55482
AGTAGAGGAGAAAATTCCTATGGTCTAGATATTACTTGTAAA | GACATGAGAAACCTGAGG c.360
S R G E N S Y G L D I T C K | D M R N L R p.120
. . . . . . g.55542
TTCGCTTTGAAACAGGAAGGCCACAGCAGAAGAGATATGTTTGAGATCCTCACGAGATAC c.420
F A L K Q E G H S R R D M F E I L T R Y p.140
. . | 07 . . . . g.75405
GCGTTTCCCCTGGCTCACAGTCTG | CCATTATTTGCATTTTTAAATGAAGAAAAGTTTAAC c.480
A F P L A H S L | P L F A F L N E E K F N p.160
. . . . | 08 . g.77707
GTGGATGGATGGACAGTTTACAATCCAGTGGAAGAATACAGGAGGCAG | GGCTTGCCCAAT c.540
V D G W T V Y N P V E E Y R R Q | G L P N p.180
. . . . . . g.77767
CACCATTGGAGAATAACTTTTATTAATAAGTGCTATGAGCTCTGTGACACTTACCCTGCT c.600
H H W R I T F I N K C Y E L C D T Y P A p.200
. . . . . . g.77827
CTTTTGGTGGTTCCGTATCGTGCCTCAGATGATGACCTCCGGAGAGTTGCAACTTTTAGG c.660
L L V V P Y R A S D D D L R R V A T F R p.220
. | 09 . . . . g.82151
TCCCGAAATCGAATTCCA | GTGCTGTCATGGATTCATCCAGAAAATAAGACGGTCATTGTG c.720
S R N R I P | V L S W I H P E N K T V I V p.240
. . . . . . g.82211
CGTTGCAGTCAGCCTCTTGTCGGTATGAGTGGGAAACGAAATAAAGATGATGAGAAATAT c.780
R C S Q P L V G M S G K R N K D D E K Y p.260
. . . . . . g.82271
CTCGATGTTATCAGGGAGACTAATAAACAAATTTCTAAACTCACCATTTATGATGCAAGA c.840
L D V I R E T N K Q I S K L T I Y D A R p.280
. . | 10. . . . g.86175
CCCAGCGTAAATGCAGTGGCCAACAAG | GCAACAGGAGGAGGATATGAAAGTGATGATGCA c.900
P S V N A V A N K | A T G G G Y E S D D A p.300
. . . . . . g.86235
TATCATAACGCCGAACTTTTCTTCTTAGACATTCATAATATTCATGTTATGCGGGAATCT c.960
Y H N A E L F F L D I H N I H V M R E S p.320
. . . . . . g.86295
TTAAAAAAAGTGAAGGACATTGTTTATCCTAATGTAGAAGAATCTCATTGGTTGTCCAGT c.1020
L K K V K D I V Y P N V E E S H W L S S p.340
. . . | 11 . . . g.94274
TTGGAGTCTACTCATTGGTTAGAACATATCAAG | CTCGTTTTGACAGGAGCCATTCAAGTA c.1080
L E S T H W L E H I K | L V L T G A I Q V p.360
. . . . . . g.94334
GCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGAC c.1140
A D K V S S G K S S V L V H C S D G W D p.380
. . . . . . g.94394
AGGACTGCTCAGCTGACATCCTTGGCCATGCTGATGTTGGATAGCTTCTATAGGAGCATT c.1200
R T A Q L T S L A M L M L D S F Y R S I p.400
. . . . . . g.94454
GAAGGGTTCGAAATACTGGTACAAAAAGAATGGATAAGTTTTGGACATAAATTTGCATCT c.1260
E G F E I L V Q K E W I S F G H K F A S p.420
| 12 . . . . . . g.96150
| CGAATAGGTCATGGTGATAAAAACCACACCGATGCTGACCGTTCTCCTATTTTTCTCCAG c.1320
| R I G H G D K N H T D A D R S P I F L Q p.440
. . . | 13 . . . g.96824
TTTATTGATTGTGTGTGGCAAATGTCAAAACAG | TTCCCTACAGCTTTTGAATTCAATGAA c.1380
F I D C V W Q M S K Q | F P T A F E F N E p.460
. . . . . . g.96884
CAATTTTTGATTATAATTTTGGATCATCTGTATAGTTGCCGATTTGGTACTTTCTTATTC c.1440
Q F L I I I L D H L Y S C R F G T F L F p.480
. . | 14. . . . g.99892
AACTGTGAATCTGCTCGAGAAAGACAG | AAGGTTACAGAAAGGACTGTTTCTTTATGGTCA c.1500
N C E S A R E R Q | K V T E R T V S L W S p.500
. . . . . . g.99952
CTGATAAACAGTAATAAAGAAAAATTCAAAAACCCCTTCTATACTAAAGAAATCAATCGA c.1560
L I N S N K E K F K N P F Y T K E I N R p.520
. . . . . . g.100012
GTTTTATATCCAGTTGCCAGTATGCGTCACTTGGAACTCTGGGTGAATTACTACATTAGA c.1620
V L Y P V A S M R H L E L W V N Y Y I R p.540
. . | 15 . . . . g.107890
TGGAACCCCAGGATCAAGCAACAA | CAGCCGAATCCAGTGGAGCAGCGTTACATGGAGCTC c.1680
W N P R I K Q Q | Q P N P V E Q R Y M E L p.560
. . . . . . g.107950
TTAGCCTTACGCGACGAATACATAAAGCGGCTTGAGGAACTGCAGCTCGCCAACTCTGCC c.1740
L A L R D E Y I K R L E E L Q L A N S A p.580
. . . . . . g.108010
AAGCTTTCTGATCCCCCAACTTCACCTTCCAGTCCTTCGCAAATGATGCCCCATGTGCAA c.1800
K L S D P P T S P S S P S Q M M P H V Q p.600
. g.108022
ACTCACTTCTGA c.1812
T H F X p.603
. . . . . . g.108082
ggggggaccctggcaccgcattagagctcgaaataaaggcgatagctgactttcatttgg c.*60
. . . . . . g.108142
ggcatttgtaaaaagtagattaaaatatttgcctccatgtagaacttgaactaacataat c.*120
. . . . . . g.108202
cttaaactcttgaatatgtgccttctagaatacatattacaagaaaactacagggtccac c.*180
. . . . . . g.108262
acggcaatcagaagaaaggagctgagatgaggttttggaaaaccctgacacctttaaaaa c.*240
. . . . . . g.108322
gcagtttttgaaagacaaaatttagatttaatttacgtcttgagaaatactatatataca c.*300
. . . . . . g.108382
atatatattttgtgggcttaattgaaacaacattattttaaaatcaaaggggatatatgt c.*360
. . . . . . g.108442
ttgtggaatggattttcctgaagctgcttaacagttgctttggattctctaagatgaatc c.*420
. . . . . . g.108502
caaatgtgaaagatgcatgttactgccaaaaccaaattgagctcagcttcctaggcatta c.*480
. . . . . . g.108562
cccaaaagcaaggtgtttaagtaattgccagcttttataccatcatgagtggtgacttaa c.*540
. . . . . . g.108622
ggagaaatagctgtatagatgagtttttcattatttggaaatttaggggtagaaaatgtt c.*600
. . . . . . g.108682
ttcccctaattttccagagaagcctatttttatatttttaaaaaactgacagggcccagt c.*660
. . . . . . g.108742
taaatatgatttgcattttttaaatttgccagttttattttctaaattctttcatgagct c.*720
. . . . . . g.108802
tgcctaaaattcggaatggttttcgggttgtggcaaaccccaaagagagcactgtccaag c.*780
. . . . . . g.108862
gatgtcgggagcatcctgctgcttaggggaatgttttcgcaaatgttgctctagtcagtc c.*840
. . . . . . g.108922
cagctcatctgccaaaatgtagggctaccgtcttggatgcatgagctattgctagagcat c.*900
. . . . . . g.108982
catccttagaaatcagtgccccagatgtacatgtgttgagcgtattcttgaaagtattgt c.*960
. . . . . . g.109042
gtttatgcatttcaatttcaatggtgttggcttcccctccccaccccacgcgtgcataaa c.*1020
. . . . . . g.109102
aactggttctacaaatttttacttgaagtaccaggccgtttgctttttcaggttgttttg c.*1080
. . . . . . g.109162
ttttatagtattaagtgaaattttaaatgcacagttctatttgctatctgaactaattca c.*1140
. . . . . . g.109222
tttattaagtatatttgtaaaagctaaggctcgagttaaaacaatgaagtgttttacaat c.*1200
. . . . . . g.109282
gatttgtaaaggactatttataactaatatggttttgttttcaatgaattaagaaagatt c.*1260
. . . . . . g.109342
aaatatatctttgtaaattattttatgtcatagtttaattggtctaccaagtaagacatc c.*1320
. . . . . . g.109402
tcaaatacagtagtataatgtatgaattttgtaagtataagaaattttattagacattct c.*1380
. . . . . . g.109462
cttactttttgtaaatgctgtaaatatttcataaattaacaaagtgtcactccataaaaa c.*1440
. . . . . . g.109522
gaaagctaatactaatagcctaaaagattttgtgaaatttcatgaaaactttttaatggc c.*1500
. . . . g.109570
aataatgactaaagacctgctgtaataaatgtattaactgaaacctaa c.*1548
(downstream sequence)
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