(used for mutation description)
(last modified April 20, 2012)
This file was created to facilitate the description of sequence variants in the MYOZ1 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_032583.1, covering MYOZ1 transcript NM_021245.3.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
g.5005
gtttc c.-361
. . . . . . g.5065
tccctaagtgcttctttggatctcaggctctaggtgcaatgtgaaggggagtccctgggc c.-301
. . . . . . g.5125
agactgatccctggctcagacagttcagtgggagaatcccaaaggccttttccctccttc c.-241
. . . . . . g.5185
ctgagcctccgggcaaggagggagggatcttggttccagggtctcagtaccccctgtgcc c.-181
. . . . . . g.5245
atttgagctgcttgcgctcatcatctctattaataaccaacttccctcccccactgccag c.-121
. . . . . . g.5305
tgctgcccccacgcctgcccagctcgtgttctccggtcacagcagctcagtcctccaaag c.-61
. . . . . | 02 . g.6740
ctgctggaccccagggagagctgaccactgcccgagcagccg | gctgaatccacctccaca c.-1
. . . . . . g.6800
ATGCCGCTCTCAGGAACCCCGGCCCCTAATAAGAAGAGGAAATCCAGCAAGCTGATCATG c.60
M P L S G T P A P N K K R K S S K L I M p.20
. | 03 . . . . . g.8882
GAACTCACTGGAG | GTGGACAGGAGAGCTCAGGCTTGAACCTGGGCAAAAAGATCAGTGTC c.120
E L T G G | G Q E S S G L N L G K K I S V p.40
. . . . . . g.8942
CCAAGGGATGTGATGTTGGAGGAACTGTCGCTGCTTACCAACCGGGGCTCCAAGATGTTC c.180
P R D V M L E E L S L L T N R G S K M F p.60
. . . . . . g.9002
AAACTGCGGCAGATGAGGGTGGAGAAGTTTATTTATGAGAACCACCCTGATGTTTTCTCT c.240
K L R Q M R V E K F I Y E N H P D V F S p.80
. | 04 . . . . . g.12072
GACAGCTCAATG | GATCACTTCCAGAAGTTCCTTCCAACAGTGGGGGGACAGCTGGGCACA c.300
D S S M | D H F Q K F L P T V G G Q L G T p.100
. . . . . . g.12132
GCTGGTCAGGGATTCTCATACAGCAAGAGCAACGGCAGAGGCGGCAGCCAGGCAGGGGGC c.360
A G Q G F S Y S K S N G R G G S Q A G G p.120
. . . . . . g.12192
AGTGGCTCTGCCGGACAGTATGGCTCTGATCAGCAGCACCATCTGGGCTCTGGGTCTGGA c.420
S G S A G Q Y G S D Q Q H H L G S G S G p.140
. . . . . . g.12252
GCTGGGGGTACAGGTGGTCCCGCGGGCCAGGCTGGCAGAGGAGGAGCTGCTGGCACAGCA c.480
A G G T G G P A G Q A G R G G A A G T A p.160
. . | 05 . . . . g.12730
GGGGTTGGTGAGACAGGATCAG | GAGACCAGGCAGGCGGAGAAGGAAAACATATCACTGTG c.540
G V G E T G S G | D Q A G G E G K H I T V p.180
. . . . . . g.12790
TTCAAGACCTATATTTCCCCATGGGAGCGAGCCATGGGGGTTGACCCCCAGCAAAAAATG c.600
F K T Y I S P W E R A M G V D P Q Q K M p.200
. . . . . . g.12850
GAACTTGGCATTGACCTGCTGGCCTATGGGGCCAAAGCTGAACTTCCCAAATATAAGTCC c.660
E L G I D L L A Y G A K A E L P K Y K S p.220
| 06 . . . . . g.14648
TTCAACAG | GACGGCAATGCCCTATGGTGGATATGAGAAGGCCTCCAAACGCATGACCTTC c.720
F N R | T A M P Y G G Y E K A S K R M T F p.240
. . . . . . g.14708
CAGATGCCCAAGTTTGACCTGGGGCCCTTGCTGAGTGAACCCCTGGTCCTCTACAACCAA c.780
Q M P K F D L G P L L S E P L V L Y N Q p.260
. . . . . . g.14768
AACCTCTCCAACAGGCCTTCTTTCAATCGAACCCCTATTCCCTGGCTGAGCTCTGGGGAG c.840
N L S N R P S F N R T P I P W L S S G E p.280
. . . . . . g.14828
CCTGTAGACTACAACGTGGATATTGGCATCCCCTTGGATGGAGAAACAGAGGAGCTGTGA c.900
P V D Y N V D I G I P L D G E T E E L X p.299
. . . . . . g.14888
ggtgtttcctcctctgatttgcatcatttcccctctctggctccaatttggagagggaat c.*60
. . . . . . g.14948
gctgagcagatagcccccattgttaatccagtatccttatgggaatggagggaaaaagga c.*120
. . . . . . g.15008
gagatctacctttccatcctttactccaagtccccactccacgcatccttcctcaccaac c.*180
. . . . . . g.15068
tcagagctccccttctacttgctccatatggaacctgctcgtttatggaatttgctctgc c.*240
. . . . . . g.15128
caccagtaacagtcaataaacttcaaggaaaatgaactcattcttcctttgatatttgag c.*300
. g.15146
agcagatgaaagccgagg c.*318
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2012 Leiden University Medical Center