(used for variant description)
(last modified August 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001101.3 in the ACTB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007992.1, covering ACTB transcript NM_001101.3.
(upstream sequence)
. . g.5024
accgccgagaccgcgtccgccccg c.-61
. . . . . . | 02 g.5944
cgagcacagagcctcgcctttgccgatccgccgcccgtccacacccgccgccag | ctcacc c.-1
. . . . . . g.6004
ATGGATGATGATATCGCCGCGCTCGTCGTCGACAACGGCTCCGGCATGTGCAAGGCCGGC c.60
M D D D I A A L V V D N G S G M C K A G p.20
. . . . . . g.6064
TTCGCGGGCGACGATGCCCCCCGGGCCGTCTTCCCCTCCATCGTGGGGCGCCCCAGGCAC c.120
F A G D D A P R A V F P S I V G R P R H p.40
| 03 . . . . . . g.6258
CAG | GGCGTGATGGTGGGCATGGGTCAGAAGGATTCCTATGTGGGCGACGAGGCCCAGAGC c.180
Q | G V M V G M G Q K D S Y V G D E A Q S p.60
. . . . . . g.6318
AAGAGAGGCATCCTCACCCTGAAGTACCCCATCGAGCACGGCATCGTCACCAACTGGGAC c.240
K R G I L T L K Y P I E H G I V T N W D p.80
. . . . . . g.6378
GACATGGAGAAAATCTGGCACCACACCTTCTACAATGAGCTGCGTGTGGCTCCCGAGGAG c.300
D M E K I W H H T F Y N E L R V A P E E p.100
. . . . . . g.6438
CACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATGACC c.360
H P V L L T E A P L N P K A N R E K M T p.120
| 04 . . . . . . g.6939
CAG | ATCATGTTTGAGACCTTCAACACCCCAGCCATGTACGTTGCTATCCAGGCTGTGCTA c.420
Q | I M F E T F N T P A M Y V A I Q A V L p.140
. . . . . . g.6999
TCCCTGTACGCCTCTGGCCGTACCACTGGCATCGTGATGGACTCCGGTGACGGGGTCACC c.480
S L Y A S G R T T G I V M D S G D G V T p.160
. . . . . . g.7059
CACACTGTGCCCATCTACGAGGGGTATGCCCTCCCCCATGCCATCCTGCGTCTGGACCTG c.540
H T V P I Y E G Y A L P H A I L R L D L p.180
. . . . . . g.7119
GCTGGCCGGGACCTGACTGACTACCTCATGAAGATCCTCACCGAGCGCGGCTACAGCTTC c.600
A G R D L T D Y L M K I L T E R G Y S F p.200
. . . . . . g.7179
ACCACCACGGCCGAGCGGGAAATCGTGCGTGACATTAAGGAGAAGCTGTGCTACGTCGCC c.660
T T T A E R E I V R D I K E K L C Y V A p.220
. . . . . . g.7239
CTGGACTTCGAGCAAGAGATGGCCACGGCTGCTTCCAGCTCCTCCCTGGAGAAGAGCTAC c.720
L D F E Q E M A T A A S S S S L E K S Y p.240
. . . . . . g.7299
GAGCTGCCTGACGGCCAGGTCATCACCATTGGCAATGAGCGGTTCCGCTGCCCTGAGGCA c.780
E L P D G Q V I T I G N E R F R C P E A p.260
. . | 05 . . . . g.7454
CTCTTCCAGCCTTCCTTCCTGG | GCATGGAGTCCTGTGGCATCCACGAAACTACCTTCAAC c.840
L F Q P S F L G | M E S C G I H E T T F N p.280
. . . . . . g.7514
TCCATCATGAAGTGTGACGTGGACATCCGCAAAGACCTGTACGCCAACACAGTGCTGTCT c.900
S I M K C D V D I R K D L Y A N T V L S p.300
. . . . . . g.7574
GGCGGCACCACCATGTACCCTGGCATTGCCGACAGGATGCAGAAGGAGATCACTGCCCTG c.960
G G T T M Y P G I A D R M Q K E I T A L p.320
. . | 06 . . . . g.7746
GCACCCAGCACAATGAAGATCAAG | ATCATTGCTCCTCCTGAGCGCAAGTACTCCGTGTGG c.1020
A P S T M K I K | I I A P P E R K Y S V W p.340
. . . . . . g.7806
ATCGGCGGCTCCATCCTGGCCTCGCTGTCCACCTTCCAGCAGATGTGGATCAGCAAGCAG c.1080
I G G S I L A S L S T F Q Q M W I S K Q p.360
. . . . g.7854
GAGTATGACGAGTCCGGCCCCTCCATCGTCCACCGCAAATGCTTCTAG c.1128
E Y D E S G P S I V H R K C F X p.375
. . . . . . g.7914
gcggactatgacttagttgcgttacaccctttcttgacaaaacctaacttgcgcagaaaa c.*60
. . . . . . g.7974
caagatgagattggcatggctttatttgttttttttgttttgttttggtttttttttttt c.*120
. . . . . . g.8034
ttttggcttgactcaggatttaaaaactggaacggtgaaggtgacagcagtcggttggag c.*180
. . . . . . g.8094
cgagcatcccccaaagttcacaatgtggccgaggactttgattgcacattgttgtttttt c.*240
. . . . . . g.8154
taatagtcattccaaatatgagatgcgttgttacaggaagtcccttgccatcctaaaagc c.*300
. . . . . . g.8214
caccccacttctctctaaggagaatggcccagtcctctcccaagtccacacaggggaggt c.*360
. . . . . . g.8274
gatagcattgctttcgtgtaaattatgtaatgcaaaatttttttaatcttcgccttaata c.*420
. . . . . . g.8334
cttttttattttgttttattttgaatgatgagccttcgtgcccccccttccccctttttt c.*480
. . . . . . g.8394
gtcccccaacttgagatgtatgaaggcttttggtctccctgggagtgggtggaggcagcc c.*540
. . . . . . g.8454
agggcttacctgtacactgacttgagaccagttgaataaaagtgcacaccttaaaaatga c.*600
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 19a
©2004-2017 Leiden University Medical Center