(used for mutation description)
(last modified April 20, 2012)
This file was created to facilitate the description of sequence variants in the MYOZ3 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_032584.1, covering MYOZ3 transcript variant-1 (NM_001122853.2). MYOZ3 transcript variant-2 (NM_133371.4) uses an alternative splice site in exon 1, shortening the 5' UTR.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . g.5048
gagaaaagaaggcaggcaggaaggaggcagaagaagaaaggcaggaga c.-541
. . . . . . g.5108
gaagaaaggaaggaagaaaaggataagtcaagcaaagatattgaggagcaattcattcat c.-481
. . . . . . g.5168
ccatctatctatccatccattccttccttcgacaaatatctgctgagttcctatcaagca c.-421
. . . . . . g.5228
ccattcttggcactaaggatataacagttaacaagcggaagctaccagcagctgaccctc c.-361
. . / . . . . g.5288
aacatttccag / gtgactttggtgtgtgcatatgtgagtgtgtgtgtacacgtgggtgcaa c.-301
/
^ alternative splice site exon 1
. . . . . . g.5348
gccctctgtctgcacaggcctgttgccagggcacctgtcttccctagggtctggtgcttt c.-241
. . . . . . g.5408
tagcctctggctccagctcctattgcagcccgaaataaggctgtgacccatggcaaggca c.-181
. . . . . . g.5468
ggaatgattctcatcagctgaagccagagctggctgcaggggacaccctgctcgctgcct c.-121
. . . . . . g.5528
actgactgctgaccgctgactgcctacagggacgccacgcaactctcagcttcccgacag c.-61
. . . . . . | 02 g.7101
aggtgttaatcttgagggtctaagattccctcctgcctattgtggtcccatcctctcag | g c.-1
. . . . . . g.7161
ATGATCCCCAAGGAGCAGAAGGGGCCAGTGATGGCTGCCATGGGGGACCTCACTGAACCA c.60
M I P K E Q K G P V M A A M G D L T E P p.20
| 03 . . . . . . g.14702
G | TCCCTACGCTGGACCTGGGCAAGAAGCTGAGCGTGCCCCAGGACCTGATGATGGAGGAG c.120
V | P T L D L G K K L S V P Q D L M M E E p.40
. . . . . . g.14762
CTGTCACTACGCAACAACAGAGGGTCCCTCCTCTTCCAGAAGAGGCAGCGCCGTGTGCAG c.180
L S L R N N R G S L L F Q K R Q R R V Q p.60
. . . | 04 . . . g.15780
AAGTTCACTTTCGAGTTAGCAGCCAGCCAGCGGGCG | ATGCTGGCCGGAAGCGCCAGGAGG c.240
K F T F E L A A S Q R A | M L A G S A R R p.80
. . . | 05 . . . g.15944
AAGGTGACTGGAACAGCGGAGTCGGGGACG | GTTGCCAATGCCAATGGCCCTGAGGGGCCG c.300
K V T G T A E S G T | V A N A N G P E G P p.100
. . . . . . g.16004
AACTACCGCTCGGAGCTCCACATCTTCCCGGCCTCACCCGGGGCCTCACTCGGGGGTCCC c.360
N Y R S E L H I F P A S P G A S L G G P p.120
. . . . . . g.16064
GAGGGCGCCCACCCTGCAGCCGCCCCTGCTGGGTGCGTCCCCAGCCCCAGCGCCCTGGCG c.420
E G A H P A A A P A G C V P S P S A L A p.140
| 06 . . . . . . g.16555
CCAG | GCTATGCGGAGCCGCTGAAGGGCGTCCCGCCAGAGAAGTTCAACCACACCGCCATC c.480
P G | Y A E P L K G V P P E K F N H T A I p.160
. . . . . . g.16615
TCCAAGGGCTACCGCTGCCCTTGGCAGGAGTTCGTCAGCTACCGGGACTACCAGAGCGAT c.540
S K G Y R C P W Q E F V S Y R D Y Q S D p.180
. . . . | 07. . g.20879
GGCCGAAGTCACACCCCCAGCCCCAACGACTACCGAAATTTCAACAA | GACCCCGGTGCCA c.600
G R S H T P S P N D Y R N F N K | T P V P p.200
. . . . . . g.20939
TTTGGAGGACCCCTCGTGGGGGGCACTTTTCCCAGGCCAGGCACCCCCTTCATCCCGGAG c.660
F G G P L V G G T F P R P G T P F I P E p.220
. . . . . . g.20999
CCCCTCAGTGGCTTGGAACTCCTCCGTCTCAGACCCAGCTTCAACAGAGTGGCCCAGGGC c.720
P L S G L E L L R L R P S F N R V A Q G p.240
. . . g.21035
TGGGTCCGTAACCTCCCAGAGTCCGAGGAGCTGTAG c.756
W V R N L P E S E E L X p.251
. . . . . . g.21095
ccctagcctgaatcttcagttccccagtctcgggggcctggtaacatccggagccaagac c.*60
. . . . . . g.21155
ttgtggacagcacttcacagttgaagaagggccttcacacacaaaacctgattgcaaatg c.*120
. . . . . . g.21215
gcttcagaggtcaccaagttcagtcgtcccaaaacatgggtgtgtttcaaaattacctgg c.*180
. . . . . . g.21275
ggatgttgttccaaatccagacaactggactgtcccagacttgcagcatcagagtctcct c.*240
. . . . . . g.21335
gagtcgaggaatctgtattattaatagcaaccagggccgggtgtcgtggctcacgcctgt c.*300
. . . . . . g.21395
catcccagcactttgggaggccgaggcaggaggatcacctgaggtcaggagtttgagacc c.*360
. . . . . . g.21455
agtctggccaaaatagtggaaccccgtcgctactaaaaatacaaaaatgagtcggacatg c.*420
. . . . . . g.21515
gtggtgcatgcctgtaatcccagctacttgggaggctgagacaggagaatcacttgaact c.*480
. . . . . . g.21575
aggaggcagaggttgcagtgagccgagattgcgccactgcaccccagcctggacaacaga c.*540
. . . . . . g.21635
gtgagactccttctcaaaagtaaataaataaatagcaaccagtactccaggtgattccag c.*600
. . . . . . g.21695
cataacttatccatggtttgtgtcattaggagtccacatccacacctctgctctttcctg c.*660
. . . . . . g.21755
ttcctgtagtgtacactcccccggtgacagggtgctcactggcaccccatcttcctgtga c.*720
. . . . . . g.21815
ataactcaaataattagaaaatgttccttttactgagatgcagttggtcttcatctattc c.*780
. . . . . . g.21875
atgctctaaacagttcctaagcgctgactgtgcgctagacactgccaggcccgggcctcg c.*840
. . . . . . g.21935
aggaggaaaagacagtagggaagacattatagagcatgaagtcaccataattttccctaa c.*900
. . . . . . g.21995
agcatgcttattgacaattgaggaacaaagtgttgtggagcagaagaaggagtccctcac c.*960
. . . . . . g.22055
cctaggtgtgagatgggattctggaagcttcctgaaggatttgagtgggaccttgtggga c.*1020
. . . . . . g.22115
ggcgtgagagtccatgaagggggtgtgagggggagggtatttctggaaagtggaccagca c.*1080
. . . . . . g.22175
tgtgcaaaaatatggaactgagcacgggtgcagggtgttctgcagaagggagaaggctgt c.*1140
. . . . . . g.22235
gctagaggagccagtgagggccagcatggggtgggcttcactaaggaaatggggaaggtt c.*1200
. . . . . . g.22295
ttagtgatgggtcttgctgggtgctgtgtggggcgcatattggagaagggtaatgccaga c.*1260
. . . . . . g.22355
agccaggaagcctgcaagggatgaggccatgggaatggagagaaggggccacccactggg c.*1320
. . . . . . g.22415
cacctaacaggacaggtgcaaagtggggtgcttattaagattccttctttccactccatt c.*1380
. . . . . . g.22475
ttgagcaggctgcttaaagtggtggtgatgatgatgatgatgatggcagctttatatcga c.*1440
. . . . . . g.22535
gtgcctcagtgcttgggctggtagtagtttctctacatatcttatttctaattctcagaa c.*1500
. . . . . . g.22595
caaccctgagagaaagatattgttgtccccactttacagatgtggatatttaggccaaaa c.*1560
. . . . . . g.22655
ggaggaagtgacttgtccaggggcagacaccaaatgggaatctgattccagtggatgtct c.*1620
. . . . . . g.22715
cttttcagtgcactgggtggtcaatgcccactcgctctgaaatcatctgactgtgatgcc c.*1680
. . . . . . g.22775
ctgccttggagtttagaagttgagtgcaggcttgggagtcagactggatggggtaggttc c.*1740
. . . . . . g.22835
taactctgccactgctagccggatgaacttgagcaagtcatttcacatctccgagcctct c.*1800
. . . . . . g.22895
gtttctccaagtgtaagatgaggacaagtataaaacctcctttatgggtttgttgtgaac c.*1860
. . . . . . g.22955
acagtgcagggcacatttataataagagctcagtcaatggtaggtttcatgcaactgctg c.*1920
. . . . . . g.23015
ctctaggctggaaaagttgttcttgcactggatgcagcatgagaagctggctgctaagat c.*1980
. . . . . . g.23075
gtcactgggggtcactaaagctgaagcctgaaggaaagcctctcattgctgtagagctct c.*2040
. . . . . . g.23135
ccctgcctctctctctgggggcgatggggaaggtcaggagtccagcccattcccagggtg c.*2100
. . . . . . g.23195
tgtgggatagcgattgcattttccttttgctctggagtttcactccccttctgggtccca c.*2160
. . . . . . g.23255
agggcccaatggcctgacttttagaattgcttgcaattggtgttttctcttgaatttggg c.*2220
. . . . . . g.23315
ggctgccatttaaagccaggtttccatgagctgaagaccagccattcaagaatctgaaaa c.*2280
. . . . . . g.23375
gtagacaagaggactccagttgcctcaggttggttctgctgtgctctggaaagtaactgc c.*2340
. . . . . . g.23435
agccaccaggtatgaaaaggagcctggtggggagaccactgcacccaaaacaaatccttt c.*2400
. . . . . . g.23495
cttcttctgagaatgtgactttttctggtgttgtaaaaaagaaaaaaaaaagaatgctca c.*2460
. . . g.23528
ttgtaaaaataaaaaaataataataagcaagga c.*2493
(downstream sequence)
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