(used for mutation description)
(last modified April 16, 2012)
This file was created to facilitate the description of sequence variants in the MYOZ2 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_029747.1, covering MYOZ2 transcript NM_016599.4.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . g.5033
atatagccagttgatgtcagctgaatgccagtc c.-181
. . . . . . g.5093
tcttcagaaaagctcagtccccagtttgagtcagagtagggaccatgctgtcccaggttc c.-121
. . . . . . g.5153
aaggataaaaaccatcaggcccaagtgccatccatagtccatctccagagtcttcctcca c.-61
. . . . . | 02 . g.5742
caaactgggattcatccccgctgaaaaagcacaatctaacagcaag | ggaacaaaaaaacc c.-1
. . . . . . g.5802
ATGCTATCACATAATACTATGATGAAGCAGAGAAAACAGCAAGCAACAGCCATCATGAAG c.60
M L S H N T M M K Q R K Q Q A T A I M K p.20
. | 03 . . . . . g.20132
GAAGTCCATGGAAATG | ATGTTGATGGCATGGACCTGGGCAAAAAGGTCAGCATCCCCAGA c.120
E V H G N D | V D G M D L G K K V S I P R p.40
. . . . . . g.20192
GACATCATGTTGGAAGAATTATCCCATCTCAGTAACCGTGGTGCCAGGCTATTTAAGATG c.180
D I M L E E L S H L S N R G A R L F K M p.60
. . . . . . g.20252
CGTCAAAGAAGATCTGACAAATACACATTTGAAAATTTCCAGTATCAATCTAGAGCACAA c.240
R Q R R S D K Y T F E N F Q Y Q S R A Q p.80
| 04 . . . . . . g.27292
ATAAAT | CACAGTATTGCTATGCAGAATGGGAAAGTGGATGGAAGTAACTTGGAAGGTGGT c.300
I N | H S I A M Q N G K V D G S N L E G G p.100
. . . . . . g.27352
TCGCAGCAAGCCCCCTTGACTCCTCCCAACACCCCAGATCCACGAAGCCCTCCAAATCCA c.360
S Q Q A P L T P P N T P D P R S P P N P p.120
. | 05 . . . . . g.33471
GACAACATTGCTCCAG | GATATTCTGGACCACTGAAGGAAATTCCTCCTGAAAAATTCAAC c.420
D N I A P G | Y S G P L K E I P P E K F N p.140
. . . . . . g.33531
ACCACAGCTGTCCCTAAGTACTATCAATCTCCCTGGGAACAAGCCATTAGCAATGATCCG c.480
T T A V P K Y Y Q S P W E Q A I S N D P p.160
. . . . . . g.33591
GAGCTTTTAGAGGCTTTATATCCTAAACTTTTCAAGCCTGAAGGAAAGGCAGAACTGCCT c.540
E L L E A L Y P K L F K P E G K A E L P p.180
. . | 06 . . . . g.55222
GATTACAGGAGCTTTAACAG | GGTTGCCACACCATTTGGAGGTTTTGAAAAAGCATCAAGA c.600
D Y R S F N R | V A T P F G G F E K A S R p.200
. . . . . . g.55282
ATGGTTAAATTTAAAGTTCCAGATTTTGAGCTACTATTGCTAACAGATCCCAGGTTTATG c.660
M V K F K V P D F E L L L L T D P R F M p.220
. . . . . . g.55342
TCCTTTGTCAATCCCCTTTCTGGCAGACGGTCCTTTAATAGGACTCCTAAGGGATGGATA c.720
S F V N P L S G R R S F N R T P K G W I p.240
. . . . . . g.55402
TCTGAGAATATTCCTATAGTGATAACAACCGAACCTACAGATGATACCACTGTACCAGAA c.780
S E N I P I V I T T E P T D D T T V P E p.260
. g.55417
TCAGAAGACCTATGA c.795
S E D L X p.264
. . . . . . g.55477
aaagaaagttgtatgtgccacataaaactctgaatataaaagttgctgttctactatttt c.*60
. . . . . . g.55537
aactactggcaaagccacttgcatttttcattagtagcaacaatagcaatttagtgattt c.*120
. . . . . . g.55597
tccttttctgacattcaatttcaatctcagatcaaatactaataaacaattagaaatctt c.*180
. . . . . . g.55657
actttaaaaaacttataactcacttgtcttcattcataattttgttttcacctggtttaa c.*240
. . . . . . g.55717
agaatccagatattttactgcaaaagttcagatggaaaagtaattgacagtttcaccttt c.*300
. . . . . . g.55777
gtctcattttatatgatttattacagtgtaagtttttcaagtggaatctagaatcaaaat c.*360
. . . . . . g.55837
acagggagagatatgaagacctattcagagtttcatctggggatgaaagctatggaagat c.*420
. . . . . . g.55897
gatgtacaaatgttattgatggagaaaatggttgggtgtgtcctttctggtgaccatgag c.*480
. . . . . . g.55957
aaaataatatgtcttgatgaagtcttttcattagtcactcttagaattctaaagtgcttt c.*540
. . . . . . g.56017
gcacttttcaatatgttttgaatcattaggtaatttattctggatgatattctccaaaat c.*600
. . . . . . g.56077
tcaattcagttattatattcatttagcattaagtcaaggagactgagaatgactcaaggg c.*660
. . . . . . g.56137
acgtcatagtaccatagttttaaggaccaaggtgtgcccagaattcaagtttcacaaatc c.*720
. . . . . . g.56197
ccaatgctgtgcattgattatgttcaactttatgtgtgcattcttagaagagtaagaaca c.*780
. . . . . . g.56257
aataaagtacaccgtaatatacatataaatacattcatgtttgtgagagaaggaaagagt c.*840
. . . . . . g.56317
aagtaatttgaattggcagctttctttgctaaatctttaaattctgttaagatcctcaag c.*900
. . . . . . g.56377
taactggggagtacatgctttaggacacaaacaaaaacaaagggcatgaaagtatctgaa c.*960
. . . . . . g.56437
agcaatgtagcacatatctatcgtaatatatgtaatatattgacataaaagacacaaact c.*1020
. . . . . . g.56497
aatataaagttatagttatatcttaaaatataattgaagaagcatatgacatataactta c.*1080
. . . . . . g.56557
tagaaatcagtatcaattcctcccatttcaattcagttaagacttctgtgatagatgttt c.*1140
. . . . . . g.56617
atagcagagaagaaatgtctcatcaatagaaaactatcagataaagtttaggagatagga c.*1200
. . . . . . g.56677
agaaggactgtgtgtagtaatgaaaataccaagttgcaacattacatgtttacaaaaaaa c.*1260
. . . . . . g.56737
aatctgtgtttgtagtgtggaagttggtgactgttttaatcatcatctagacttgttaag c.*1320
. . . . . . g.56797
tagaaaaattttaaaaatttgcttatgaaaatataacccccagaaagtaacaatgacaaa c.*1380
. . . . . . g.56857
gtattatatttatatatattattgtagagaatttgtatatttttaaagatgtcttaagat c.*1440
. . . . . . g.56917
atcttaattttatttataagttttggtgtttacctgttttaaaatgataatgttggcatc c.*1500
. . . . . . g.56977
tgtgataaactatcaatgaggctcccatcatgccattttttgttcattttaatctttaaa c.*1560
. . g.57006
aaataaaaattaggcatattaattatgca c.*1589
(downstream sequence)
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