(used for variant description)
(last modified October 22, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_016188.4 in the ACTL6B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering ACTL6B transcript NM_016188.4.
(upstream sequence)
. . . . g.5047
aattggccgctgagagtcccgccccgccagggatcccgggagctgtc c.-61
. . . . . . g.5107
cggccgcctcggtgctgatcccgccaccgcccacgggccgctagcagcgcagcgggcact c.-1
. . | 02 . . . . g.5617
ATGAGCGGGGGCGTCTACGGCGGAG | ATGAGGTGGGGGCGCTGGTCTTTGACATTGGCTCC c.60
M S G G V Y G G D | E V G A L V F D I G S p.20
. . . . | 03 . . g.5893
TTCTCAGTCCGCGCTGGGTACGCTGGGGAGGACTGTCCCAAG | GCTGACTTCCCCACCACA c.120
F S V R A G Y A G E D C P K | A D F P T T p.40
. . . . . . g.5953
GTGGGGCTGCTGGCCGCGGAGGAGGGGGGCGGGCTGGAGCTGGAGGGGGACAAAGAGAAG c.180
V G L L A A E E G G G L E L E G D K E K p.60
. . . . . . g.6013
AAAGGGAAGATCTTCCACATCGACACCAATGCCCTGCACGTGCCTCGGGATGGAGCGGAG c.240
K G K I F H I D T N A L H V P R D G A E p.80
. . | 04 . . . g.6374
GTCATGTCGCCCCTCAAGAATGGCATGA | TCGAGGACTGGGAGTGCTTCCGAGCCATCCTG c.300
V M S P L K N G M I | E D W E C F R A I L p.100
. . . . . . g.6434
GATCACACCTACAGCAAACACGTCAAGTCTGAGCCAAACCTGCACCCAGTGCTCATGTCC c.360
D H T Y S K H V K S E P N L H P V L M S p.120
| 05 . . . . . g.11377
GAGGCTCCG | TGGAACACACGGGCCAAGCGGGAGAAGCTGACAGAGCTGATGTTCGAGCAG c.420
E A P | W N T R A K R E K L T E L M F E Q p.140
. . . . | 06. . g.12651
TACAACATTCCTGCCTTCTTCTTATGCAAGACGGCTGTGCTCACCGC | CTTTGCAAACGGG c.480
Y N I P A F F L C K T A V L T A | F A N G p.160
. . . . . . g.12711
CGGTCCACTGGCCTCGTGCTGGACAGTGGAGCCACCCACACCACGGCCATTCCAGTACAT c.540
R S T G L V L D S G A T H T T A I P V H p.180
. . | 07 . . . . g.12837
GACGGCTACGTTCTGCAGCAAG | GCATCGTCAAGTCCCCTCTGGCAGGGGACTTCATCTCC c.600
D G Y V L Q Q G | I V K S P L A G D F I S p.200
. . . . . . g.12897
ATGCAGTGCCGGGAGCTGTTCCAGGAGATGGCCATTGACATCATCCCACCTTACATGATC c.660
M Q C R E L F Q E M A I D I I P P Y M I p.220
| 08 . . . . . g.13979
GCAGCCAAG | GAGCCTGTCCGGGAGGGTGCCCCCCCAAACTGGAAGAAGAAGGAGAAGCTA c.720
A A K | E P V R E G A P P N W K K K E K L p.240
. . . | 09 . . g.14198
CCCCAGGTCTCCAAGTCCTGGCATAACTACATGTGTAAT | GAGGTGATCCAGGACTTCCAG c.780
P Q V S K S W H N Y M C N | E V I Q D F Q p.260
. . . . | 10 . . g.14395
GCCTCCGTGCTGCAGGTCTCAGACTCCCCCTACGATGAACA | GGTGGCTGCACAAATGCCC c.840
A S V L Q V S D S P Y D E Q | V A A Q M P p.280
. . . . . . g.14455
ACAGTGCACTACGAGATGCCCAATGGCTACAATACAGACTACGGCGCCGAGCGACTCCGC c.900
T V H Y E M P N G Y N T D Y G A E R L R p.300
. . . | 11 . . . g.14654
ATCCCTGAGGGCCTGTTTGATCCCTCGAACGTCAAG | GGCCTGTCGGGGAACACCATGTTG c.960
I P E G L F D P S N V K | G L S G N T M L p.320
. . . . . | 12. g.14818
GGTGTGGGCCACGTGGTGACCACCAGCATCGGCATGTGTGACATTGATATTCGCCCG | GGC c.1020
G V G H V V T T S I G M C D I D I R P | G p.340
. . . . . . g.14878
CTGTACGGGAGTGTCATTGTCACCGGCGGGAACACACTGCTGCAGGGCTTCACTGACAGG c.1080
L Y G S V I V T G G N T L L Q G F T D R p.360
. . . | 13 . . . g.15153
CTCAATCGAGAGCTTTCCCAGAAGACCCCACCG | AGCATGCGACTGAAACTCATTGCCAGC c.1140
L N R E L S Q K T P P | S M R L K L I A S p.380
. . . . . . g.15213
AACAGCACCATGGAGCGCAAGTTCAGCCCCTGGATCGGGGGTTCCATCCTGGCCTCACTG c.1200
N S T M E R K F S P W I G G S I L A S L p.400
| 14 . . . . . . g.18195
| GGCACTTTCCAGCAGATGTGGATCTCCAAGCAGGAATATGAGGAGGGCGGGAAGCAGTGC c.1260
| G T F Q Q M W I S K Q E Y E E G G K Q C p.420
. . g.18216
GTGGAGCGAAAGTGCCCCTGA c.1281
V E R K C P X p.426
. . . . . . g.18276
tggcactcctccccacacacctgctcccaagctcagatggaagtcccttaacccccatgc c.*60
. . . . . . g.18336
cacattgcccccctcctcctttccctcttgtcctcattaatggtgatgtttctgggttga c.*120
. . g.18365
aagaagtaaaaatgttttaagaaaaaaaa c.*149
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 25
©2004-2020 Leiden University Medical Center