(used for variant description)
(last modified January 20, 2019)
This file was created to facilitate the description of sequence variants in the CFL2 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_012740.1, covering transcript variant 2 (NM_138638.4). Intron 1 contains an alternative promoter /exon 01b, used in transcript variant 1 (NM_021914.7). Exon 02 sometimes uses an alternatively splice donor site, encoding a truncated protein.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . g.5043
cgcgctctgaggtcaggccgaggacgcggacagccggggagcc c.-241
. . . . . . g.5103
ggggccgcgagacagaagggccggcctgggagcgggtggcgccggctggggaccaggcgt c.-181
. . . . . . g.5163
gcccacgtgaccgccccgcccgctgcctgcggcccgccgagccccgccacctccctcggg c.-121
. . . . . . g.5223
ctgcagctcccggcgtgccccgcactctccgctgcccacccgctcgcccgcccctccttc c.-61
. . . . . . g.5283
tcctcccagtgccacagagccgaagcccgagctgccgccgcagccacagccgagggcact c.-1
| 02 . . . . . | . g.6319
ATG | GCTTCTGGAGTTACAGTGAATGATGAAGTCATCAAAGTTTTTAATGATATGAAA | GTA c.60
M | A S G V T V N D E V I K V F N D M K V p.20
alternative exon 02 splice donor site in some transcripts ^
. . . . . . g.6379
AGGAAATCTTCTACACAAGAGGAGATCAAAAAGAGAAAGAAAGCAGTTCTCTTCTGTTTA c.120
R K S S T Q E E I K K R K K A V L F C L p.40
. . . . . . g.6439
AGCGATGACAAAAGACAAATAATTGTAGAGGAAGCAAAGCAGATCTTGGTGGGTGACATT c.180
S D D K R Q I I V E E A K Q I L V G D I p.60
. . . . . . g.6499
GGTGATACTGTAGAGGACCCCTACACATCTTTTGTGAAGTTGCTACCTCTGAATGATTGC c.240
G D T V E D P Y T S F V K L L P L N D C p.80
. . . . . . g.6559
CGATATGCTTTGTACGATGCCACATACGAAACAAAAGAGTCTAAGAAAGAAGACCTAGTA c.300
R Y A L Y D A T Y E T K E S K K E D L V p.100
. | 03 . . . . . g.6736
TTTATATTCTG | GGCTCCTGAAAGTGCACCTTTAAAAAGCAAGATGATTTATGCTAGCTCT c.360
F I F W | A P E S A P L K S K M I Y A S S p.120
. . | 04 . . . g.6878
AAAGATGCCATTAAAAAGAAATTTACAG | GTATTAAACATGAGTGGCAAGTAAATGGCTTG c.420
K D A I K K K F T G | I K H E W Q V N G L p.140
. . . . . . g.6938
GATGATATTAAGGACCGTTCGACACTTGGAGAGAAATTGGGAGGCAATGTAGTAGTTTCA c.480
D D I K D R S T L G E K L G G N V V V S p.160
. . g.6959
CTTGAAGGAAAACCATTATAA c.501
L E G K P L X p.166
. . . . . . g.7019
aatgacagtcaagtgccatctggatcttaaggagcttccatttctccagctcagtccatt c.*60
. . . . . . g.7079
ggaatagtattaggttttggttttttgttgtatttccccctttccactgggcccttccaa c.*120
. . . . . . g.7139
cacaatgaatgaaggaaatatcatttatttaagcagcctatcagtgattgccattagact c.*180
. . . . . . g.7199
gttgaatactgttacttttatatagaacccaaggaatgccttcctgtcatattttagcca c.*240
. . . . . . g.7259
aaacaactggttatatgcctcccttgcagcaagcactacaatgtatgtgatcgtcaatgt c.*300
. . . . . . g.7319
gaatagcttagaatactgcaaaggataagctaattgaatgccttgaaagtattatccact c.*360
. . . . . . g.7379
ggtcagatggtcaacttttttcagtattatttatagttggcacttgattgcagttctgtg c.*420
. . . . . . g.7439
aggcttgagcattcatacacctcacctgccttggcaagcctattttagtgatatggcagc c.*480
. . . . . . g.7499
acggatataacactatgcattaaaagcactttttgtaataagtttaatatcctaaaagga c.*540
. . . . . . g.7559
atgccaattaagttttgttaactgtgtcatcaacttatcctagtacctcagtgttcattc c.*600
. . . . . . g.7619
ctgttacctgcatatcttcttaaaagaaatagctgttattaatgcctttttgttttccat c.*660
. . . . . . g.7679
tgagtgtacactactgaataagtgtaggagttttatgtttaccatgtgagtcctgcaaca c.*720
. . . . . . g.7739
ctaaagatattttgaatatcagtcatgatggcaatttctgtataaaagagccttaaatgg c.*780
. . . . . . g.7799
aacattgttttgagatcaaactccccaccctcacaaaaatggccacgttgcaataaaaat c.*840
. . . . . . g.7859
tgtggcatattacagaacgttgccttgttttccttggaaattttgcaaaatgttatgtga c.*900
^ ^ ^ ^ polyA addition sites
. . . . . . g.7919
aacaacttctagggtaaaaacagctattactaatctctgcactggtcatttgagaatttt c.*960
. . . . . . g.7979
ttttgtacagcattcatgtgtgatattttccagatttgttggatctatttggtttaaaaa c.*1020
. . . . . . g.8039
gtattctatcttaaggccaactaatataaaataccattgttaaagaatggtacttttata c.*1080
. . . . . . g.8099
aacattagtgtatttatttcctatgtgttaatatgaagatcagaaattattttttgcact c.*1140
. . . . . . g.8159
ttggcataaatacttttcaatatctgatttgttctctggataaattagcatagttatttt c.*1200
. . . . . . g.8219
tttattcacatttacatttctaagtagttgtatagtagaagcaggaagctcttattgctt c.*1260
. . . . . . g.8279
atttggtcgtaatgaaaataatttgtaaaatgtcctttaaaagtttaatgatacttctga c.*1320
. . . . . . g.8339
tgtttcggaacagtcatttcacctactatttctgaatatattttgcaaattgaattggaa c.*1380
. . . . . . g.8399
taggaattgataatagcagtcttaaacattagtagtgggatttggctatggtccagactg c.*1440
. . . . . . g.8459
tgctccttatagagaatttgatctgctcagtgtgagcggtttgctgttagccagggctat c.*1500
. . . . . . g.8519
ttatggcaaacacatgcttttgtatcttgtcatagttatccacaaatggcaaaactggac c.*1560
. . . . . . g.8579
ttgattctactggtatgcaaaacaggcatgctagtaagcagtcagtcgtggctcagaact c.*1620
. . . . . . g.8639
taaccccatagctcagaggaatgcttttagcagaaaacaggaaagaaaatatcccttaaa c.*1680
. . . . . . g.8699
aattttttttgaatgtgtggaagtaattttagtataattagattttttccatatttttga c.*1740
. . . . . . g.8759
aagatttttcagatgtgaacattaaaaatagggattaaatgtctaggcttccatttaaaa c.*1800
. . . . . . g.8819
ttatatgaatggtttgggatctttttgcactgagcaattttatttcaggcttccagctgt c.*1860
. . . . . . g.8879
ccctgtgagttatcctggacatttcgatggtttttggtaaggccaaactctgataagcaa c.*1920
. . . . . . g.8939
aacagagaatactgacgtatacttaaccatatgtgtaactgatacttggcaccatggaat c.*1980
. . . . . . g.8999
ttttcattgagttatttcctcattcttttaaaaaataagggactataaatcagttatgta c.*2040
. . . . . . g.9059
gtatcttttgtttttgtagctgattccttaactttcttgtatgcctctagtaatttcaga c.*2100
. . . . . . g.9119
gattaaatattgctttaaactgtgatactttgatttgctagattgacaaaactgatacta c.*2160
. . . . . . g.9179
atataattaagttcatctttgaaatacatctttgtgcgtagagccaaaaaaagagataaa c.*2220
. . . . . . g.9239
attaataatagttcacttgttatttgagattaatttggcatttgaaatgatcattttatt c.*2280
. . . . . . g.9299
ttacaatcatttataatgaatcaatgttccagttagctttaaaaggtatacggtgctaat c.*2340
. . . . . . g.9359
tagtaaaatattgaaggcaatattttactgctagcttgcaaagttatgagagtttaaaaa c.*2400
. . . . . . g.9419
ataaaatatatgaaaatatgtaaagctgttgagatgtgtttacttatacttcagaacatt c.*2460
^ ^ ^ ^ polyA addition sites
. . g.9442
aaaagtttaaaaactggtatttc c.*2483
^ ^ ^ polyA addition sites
(downstream sequence)
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