(used for mutation description)
(last modified May 28, 2010)
This file was created to facilitate the description of sequence variants in the MSTN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009800.1, covering MSTN transcript NM_005259.2.
(upstream sequence)
. g.5013
agattcactggtg c.-121
. . . . . . g.5073
tggcaagttgtctctcagactgtacatgcattaaaattttgcttggcattactcaaaagc c.-61
. . . . . . g.5133
aaaagaaaagtaaaaggaagaaacaagaacaagaaaaaagattatattgattttaaaatc c.-1
. . . . . . g.5193
ATGCAAAAACTGCAACTCTGTGTTTATATTTACCTGTTTATGCTGATTGTTGCTGGTCCA c.60
M Q K L Q L C V Y I Y L F M L I V A G P p.20
. . . . . . g.5253
GTGGATCTAAATGAGAACAGTGAGCAAAAAGAAAATGTGGAAAAAGAGGGGCTGTGTAAT c.120
V D L N E N S E Q K E N V E K E G L C N p.40
. . . . . . g.5313
GCATGTACTTGGAGACAAAACACTAAATCTTCAAGAATAGAAGCCATTAAGATACAAATC c.180
A C T W R Q N T K S S R I E A I K I Q I p.60
. . . . . . g.5373
CTCAGTAAACTTCGTCTGGAAACAGCTCCTAACATCAGCAAAGATGTTATAAGACAACTT c.240
L S K L R L E T A P N I S K D V I R Q L p.80
. . . . . . g.5433
TTACCCAAAGCTCCTCCACTCCGGGAACTGATTGATCAGTATGATGTCCAGAGGGATGAC c.300
L P K A P P L R E L I D Q Y D V Q R D D p.100
. . . . . . g.5493
AGCAGCGATGGCTCTTTGGAAGATGACGATTATCACGCTACAACGGAAACAATCATTACC c.360
S S D G S L E D D D Y H A T T E T I I T p.120
. | 02 . . . . . g.7341
ATGCCTACAGAGT | CTGATTTTCTAATGCAAGTGGATGGAAAACCCAAATGTTGCTTCTTT c.420
M P T E S | D F L M Q V D G K P K C C F F p.140
. . . . . . g.7401
AAATTTAGCTCTAAAATACAATACAATAAAGTAGTAAAGGCCCAACTATGGATATATTTG c.480
K F S S K I Q Y N K V V K A Q L W I Y L p.160
. . . . . . g.7461
AGACCCGTCGAGACTCCTACAACAGTGTTTGTGCAAATCCTGAGACTCATCAAACCTATG c.540
R P V E T P T T V F V Q I L R L I K P M p.180
. . . . . . g.7521
AAAGACGGTACAAGGTATACTGGAATCCGATCTCTGAAACTTGACATGAACCCAGGCACT c.600
K D G T R Y T G I R S L K L D M N P G T p.200
. . . . . . g.7581
GGTATTTGGCAGAGCATTGATGTGAAGACAGTGTTGCAAAATTGGCTCAAACAACCTGAA c.660
G I W Q S I D V K T V L Q N W L K Q P E p.220
. . . . . . g.7641
TCCAACTTAGGCATTGAAATAAAAGCTTTAGATGAGAATGGTCATGATCTTGCTGTAACC c.720
S N L G I E I K A L D E N G H D L A V T p.240
. . | 03. . . . g.10124
TTCCCAGGACCAGGAGAAGATGGGCTG | AATCCGTTTTTAGAGGTCAAGGTAACAGACACA c.780
F P G P G E D G L | N P F L E V K V T D T p.260
. . . . . . g.10184
CCAAAAAGATCCAGAAGGGATTTTGGTCTTGACTGTGATGAGCACTCAACAGAATCACGA c.840
P K R S R R D F G L D C D E H S T E S R p.280
. . . . . . g.10244
TGCTGTCGTTACCCTCTAACTGTGGATTTTGAAGCTTTTGGATGGGATTGGATTATCGCT c.900
C C R Y P L T V D F E A F G W D W I I A p.300
. . . . . . g.10304
CCTAAAAGATATAAGGCCAATTACTGCTCTGGAGAGTGTGAATTTGTATTTTTACAAAAA c.960
P K R Y K A N Y C S G E C E F V F L Q K p.320
. . . . . . g.10364
TATCCTCATACTCATCTGGTACACCAAGCAAACCCCAGAGGTTCAGCAGGCCCTTGCTGT c.1020
Y P H T H L V H Q A N P R G S A G P C C p.340
. . . . . . g.10424
ACTCCCACAAAGATGTCTCCAATTAATATGCTATATTTTAATGGCAAAGAACAAATAATA c.1080
T P T K M S P I N M L Y F N G K E Q I I p.360
. . . . g.10472
TATGGGAAAATTCCAGCGATGGTAGTAGACCGCTGTGGGTGCTCATGA c.1128
Y G K I P A M V V D R C G C S X p.375
. . . . . . g.10532
gatttatattaagcgttcataacttcctaaaacatggaaggttttcccctcaacaatttt c.*60
. . . . . . g.10592
gaagctgtgaaattaagtaccacaggctataggcctagagtatgctacagtcacttaagc c.*120
. . . . . . g.10652
ataagctacagtatgtaaactaaaagggggaatatatgcaatggttggcatttaaccatc c.*180
. . . . . . g.10712
caaacaaatcatacaagaaagttttatgatttccagagtttttgagctagaaggagatca c.*240
. . . . . . g.10772
aattacatttatgttcctatatattacaacatcggcgaggaaatgaaagcgattctcctt c.*300
. . . . . . g.10832
gagttctgatgaattaaaggagtatgctttaaagtctatttctttaaagttttgtttaat c.*360
. . . . . . g.10892
atttacagaaaaatccacatacagtattggtaaaatgcaggattgttatataccatcatt c.*420
. . . . . . g.10952
cgaatcatccttaaacacttgaatttatattgtatggtagtatacttggtaagataaaat c.*480
. . . . . . g.11012
tccacaaaaatagggatggtgcagcatatgcaatttccattcctattataattgacacag c.*540
. . . . . . g.11072
tacattaacaatccatgccaacggtgctaatacgataggctgaatgtctgaggctaccag c.*600
. . . . . . g.11132
gtttatcacataaaaaacattcagtaaaatagtaagtttctcttttcttcaggtgcattt c.*660
. . . . . . g.11192
tcctacacctccaaatgaggaatggattttctttaatgtaagaagaatcatttttctaga c.*720
. . . . . . g.11252
ggttggctttcaattctgtagcatacttggagaaactgcattatcttaaaaggcagtcaa c.*780
. . . . . . g.11312
atggtgtttgtttttatcaaaatgtcaaaataacatacttggagaagtatgtaattttgt c.*840
. . . . . . g.11372
ctttggaaaattacaacactgcctttgcaacactgcagtttttatggtaaaataatagaa c.*900
. . . . . . g.11432
atgatcgactctatcaatattgtataaaaagactgaaacaatgcatttatataatatgta c.*960
. . . . . . g.11492
tacaatattgttttgtaaataagtgtctccttttttatttactttggtatatttttacac c.*1020
. . . . . . g.11552
taaggacatttcaaattaagtactaaggcacaaagacatgtcatgcatcacagaaaagca c.*1080
. . . . . . g.11612
actacttatatttcagagcaaattagcagattaaatagtggtcttaaaactccatatgtt c.*1140
. . . . . . g.11672
aatgattagatggttatattacaatcattttatatttttttacatgattaacattcactt c.*1200
. . . . . . g.11732
atggattcatgatggctgtataaagtgaatttgaaatttcaatggtttactgtcattgtg c.*1260
. . . . . . g.11792
tttaaatctcaacgttccattattttaatacttgcaaaaacattactaagtataccaaaa c.*1320
. . . . . . g.11852
taattgactctattatctgaaatgaagaataaactgatgctatctcaacaataactgtta c.*1380
. . . . . . g.11912
cttttattttataatttgataatgaatatatttctgcatttatttacttctgttttgtaa c.*1440
. . . . . . g.11972
attgggattttgttaatcaaatttattgtactatgactaaatgaaattatttcttacatc c.*1500
. . . . . g.12030
taatttgtagaaacagtataagttatattaaagtgttttcacatttttttgaaagaca c.*1558
(downstream sequence)
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