(used for mutation description)
(last modified May 28, 2010)
This file was created to facilitate the description of sequence variants in the ACTC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007553.1, covering ACTC1 transcript NM_005159.4.
(upstream sequence)
g.5003
tgg c.-241
. . . . . . g.5063
ctgatcctctcccctgcccttggctccatgaatggcctcggcagtcctagcgggtgcgaa c.-181
. . . . . . g.5123
ggggaccaaataaggcaaggtggcagaccgggccccccacccctgcccccggctgctcca c.-121
. . . . . . g.5183
actgaccctgtccatcagcgttctataaagcggccctcctggagccagccacccagagcc c.-61
. . . . | 02. . g.5918
cgctgccgccggagccgagccgacccgccccgccgacg | aaccccctgaagctgtgccaag c.-1
. . . . . . g.5978
ATGTGTGACGACGAGGAGACCACCGCCCTGGTGTGCGACAACGGCTCTGGGCTGGTGAAG c.60
M C D D E E T T A L V C D N G S G L V K p.20
. . . . . . g.6038
GCCGGCTTTGCGGGCGATGACGCGCCCCGCGCTGTCTTCCCGTCCATCGTGGGCCGCCCG c.120
A G F A G D D A P R A V F P S I V G R P p.40
| 03 . . . . . g.7208
CGGCACCAG | GGAGTTATGGTGGGTATGGGTCAGAAGGACTCCTACGTAGGTGATGAAGCC c.180
R H Q | G V M V G M G Q K D S Y V G D E A p.60
. . . . . . g.7268
CAGAGCAAGAGAGGCATCCTGACCCTGAAGTATCCCATCGAGCATGGTATCATCACCAAC c.240
Q S K R G I L T L K Y P I E H G I I T N p.80
. . . . . . g.7328
TGGGACGACATGGAGAAGATCTGGCACCACACCTTCTACAATGAGCTCCGTGTGGCTCCC c.300
W D D M E K I W H H T F Y N E L R V A P p.100
. . . . . . g.7388
GAGGAGCACCCCACCCTGCTCACAGAGGCCCCGCTGAACCCCAAGGCCAACCGGGAGAAG c.360
E E H P T L L T E A P L N P K A N R E K p.120
. . . . . . g.7448
ATGACTCAGATCATGTTTGAGACCTTCAATGTCCCTGCCATGTACGTGGCCATCCAGGCA c.420
M T Q I M F E T F N V P A M Y V A I Q A p.140
. . . | 04 . . . g.8183
GTGCTATCCCTGTATGCTTCTGGCCGTACCACAG | GCATTGTTCTGGACTCTGGGGATGGT c.480
V L S L Y A S G R T T G | I V L D S G D G p.160
. . . . . . g.8243
GTAACTCACAATGTCCCCATCTATGAGGGCTACGCTTTGCCCCATGCCATCATGCGTCTG c.540
V T H N V P I Y E G Y A L P H A I M R L p.180
. . . . . . g.8303
GATCTGGCTGGTCGGGACCTCACTGACTACCTCATGAAGATCCTCACTGAGCGTGGCTAC c.600
D L A G R D L T D Y L M K I L T E R G Y p.200
. | 05 . . . . . g.8489
TCCTTTGTCACCACTG | CTGAACGTGAAATTGTCCGTGACATTAAAGAGAAGCTGTGCTAT c.660
S F V T T A | E R E I V R D I K E K L C Y p.220
. . . . . . g.8549
GTCGCCCTGGATTTTGAGAATGAGATGGCCACAGCTGCCTCTTCCTCCTCCCTGGAGAAG c.720
V A L D F E N E M A T A A S S S S L E K p.240
. . . . . . g.8609
AGCTATGAACTGCCTGATGGCCAAGTCATCACTATTGGCAATGAGCGCTTCCGCTGTCCT c.780
S Y E L P D G Q V I T I G N E R F R C P p.260
. . | 06 . . . g.9463
GAGACACTCTTCCAGCCCTCCTTCATTG | GTATGGAATCTGCTGGCATCCATGAAACAACT c.840
E T L F Q P S F I G | M E S A G I H E T T p.280
. . . . . . g.9523
TACAATAGCATCATGAAGTGTGACATTGATATCCGCAAGGACCTGTATGCCAACAATGTC c.900
Y N S I M K C D I D I R K D L Y A N N V p.300
. . . . . . g.9583
TTATCTGGAGGCACCACTATGTACCCTGGTATTGCTGATCGTATGCAGAAGGAAATCACT c.960
L S G G T T M Y P G I A D R M Q K E I T p.320
. . . | 07 . . . g.10201
GCTCTGGCTCCTAGCACCATGAAGATTAAG | ATTATTGCTCCCCCTGAGCGTAAATACTCT c.1020
A L A P S T M K I K | I I A P P E R K Y S p.340
. . . . . . g.10261
GTCTGGATTGGGGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAAATGTGGATTAGC c.1080
V W I G G S I L A S L S T F Q Q M W I S p.360
. . . . . g.10315
AAGCAAGAGTACGATGAGGCAGGCCCATCCATTGTCCACCGCAAATGCTTCTAA c.1134
K Q E Y D E A G P S I V H R K C F X p.377
. . . . . . g.10375
gatgccttctctctccatctaccttccagtcaggatgacggtattatgcttcttggagtc c.*60
. . . . . . g.10435
ttccaaaccaccttccctcatctttcatcaatcattgtacagtttgtttacacacgtgca c.*120
. . . . . . g.10495
atttgtttgtgcttctaatatttattgctttataaataaaccagaccaggacttgcaacc c.*180
. . . . . . g.10555
tataaaagcctctcgtttgtttttggggtaggcgtggggtggggcaggtgtttgctttga c.*240
. . . . . . g.10615
caccctgagcattgtcaaagttcagtaccacaaggttcatccagatgaattaatatgaca c.*300
. . . . . . g.10675
gttagctgggagttataatgctaacttttgatttcatattttgagacagaatcatgaata c.*360
. . . . . . g.10735
tatttcatacctgaaaagcagattaaggtttagttccatataagtaagaaatgaaattga c.*420
. . . . . . g.10795
ataagatagttctctagaattagttgctgcagatgacactgaagattattttaacatatg c.*480
. . . . . . g.10855
ttccagttgtttttgtaaccttgcagaaaatacacatatattgataatgagaaagtcaaa c.*540
. . . . . . g.10915
gattattttaaatgaattggcttaacttttcaattctttgaactcttcaattttcttcct c.*600
. . . . . . g.10975
gggggctatgaaagaaacatgaaggttagctgacagttgggccagccacatcccattgca c.*660
. . . . . . g.11035
aataccctctaaacatatcaagaccattgtgtgtgtgcaaaacaaatgtgaggaagcagg c.*720
. . . . . . g.11095
agccaaacacttctgcctgatcagtgactaacttgcgagacagaagccttcaatctcttc c.*780
. . . . . . g.11155
gtttctttgaaatcttgagatcttgggttgagtgaactgaaggctgcgaggtcctgaggg c.*840
. . . . . . g.11215
agcaaggggaggcgagagccacagtgtttgctttgctctgtgcagagctctctgcaaagt c.*900
. . . . . . g.11275
atggtgggaaggctgctaggggcagcgttgaaaagaattgaatgtgttccatcctcgagg c.*960
. . . . . . g.11335
agttcacacacctacacataatcccccagtgcgtgtggcctggaggctttaaggagatgt c.*1020
. . . . . . g.11395
atgtgggtctgggtcttagagaatggtcaggaattagggaggtgagaagagcagagagga c.*1080
. . . . . . g.11455
catctcagcagaaggaagtgtggcagaagccaggatacaagacatggggcaggctggtag c.*1140
. . . . . . g.11515
gtgctgatgaattttagaaaatccactgggaaaggtagatttcaactagattgcagaagc c.*1200
. . . . . . g.11575
cttacagatttttgttttcaaattaattgccagtgaactgttagcattcacagaagtgtt c.*1260
. . . . . . g.11635
tgaatagacttaattgaattttattgatgaggattcaagacacagagattaagcaactgg c.*1320
. . . . . . g.11695
tgcaatgttataaactttatttgtggaatgtgctagacaggaactcagattttctgacac c.*1380
. . . . . . g.11755
ctactctgatggtgtctctaaaataatctttctaactttatagtttatcaagggtaaccc c.*1440
. . . . . . g.11815
cattctatcacatgccttttgagaatttgggttcaatatttggagtactctggactcatc c.*1500
. . . . . . g.11875
agacatctttaataaattgtaatacattgccactgtcattcaaggtcctatgtgtgtctt c.*1560
. . . . . . g.11935
tttgcctattcataccaaaaatatcttttgatccctgactctgggtcgggcatagtatta c.*1620
. . . . . . g.11995
agggcaggggacacaaagatgtatgagagcacattttctgtgaataaaaagctcagagtt c.*1680
. . . . . . g.12055
tagagttctgtatgtagcatattcaaatggaaggccttctatgcaataaaggctaaataa c.*1740
. . . . . . g.12115
tacatcaacttggtggcattttatttagataaggtgcaaacattattgtacatatgcccc c.*1800
. . . . . . g.12175
ccgcccccaccaccccattgtatcctatagcacagttgaactggtttaaaagccatgcat c.*1860
. . . . . . g.12235
ggggaggtatgatttcactagtttttgtgtctctttcttttcctctgtacaattgagtgc c.*1920
. . . . . . g.12295
ataaatattatgaattgtatcctctgaacacagtattaatgctttaactgtagatgattg c.*1980
. . . . . . g.12355
gctggggtatcacctctggttctttccatctgtgattagaaatggagaggacatttttat c.*2040
. . . . . . g.12415
ttctatgtaaaagtagaagctttaagaatcagcttctgatatttatatcagaagaggtaa c.*2100
. . . . . . g.12475
gcacccagattcttgttgaattctgaggtcttctcatctttgcttgattatagggtataa c.*2160
. . . . . . g.12535
agtattagaacaattgaatcttaaaaattgtgcttaaggaaggtactaagacaaaaatgt c.*2220
. . . . . . g.12595
ttgcttaaggtaatcttcatatgtatacaataactgagacatggatagtgcctacgtctt c.*2280
. . . g.12631
tggttaaagtgcaataaacaaagaactatataaatt c.*2316
(downstream sequence)
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