(used for variant description)
(last modified September 19, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_033118.3 in the MYLK2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012847.1, covering MYLK2 transcript NM_033118.3.
(upstream sequence)
. . . . g.5042
cctgagcagccgctgggagacagacggcaaccaggttgcccc c.-61
. . | 02 . . . . g.5206
tctttgctccag | ctagaaagacttgagttagacaagcagcagcacacgcctccctacctc c.-1
. . . . . | 03 . g.5759
ATGGCGACAGAAAATGGAGCAGTTGAGCTGGGAATTCAGAACCCATCAACAG | ACAAGGCA c.60
M A T E N G A V E L G I Q N P S T D | K A p.20
. . . . . . g.5819
CCTAAAGGTCCCACAGGTGAAAGACCCCTGGCTGCAGGGAAAGACCCTGGCCCCCCAGAC c.120
P K G P T G E R P L A A G K D P G P P D p.40
. . . . . . g.5879
CCAAAGAAAGCTCCGGATCCACCCACCCTGAAGAAAGATGCCAAAGCCCCTGCCTCAGAG c.180
P K K A P D P P T L K K D A K A P A S E p.60
. . . . . . g.5939
AAAGGGGATGGTACCCTGGCCCAACCCTCAACTAGCAGCCAAGGCCCCAAAGGAGAGGGT c.240
K G D G T L A Q P S T S S Q G P K G E G p.80
. . . . . . g.5999
GACAGGGGCGGGGGGCCCGCGGAGGGCAGTGCTGGGCCCCCGGCAGCCCTGCCCCAGCAG c.300
D R G G G P A E G S A G P P A A L P Q Q p.100
. . . . . . g.6059
ACTGCGACACCTGAGACCAGCGTCAAGAAGCCCAAGGCTGAGCAGGGAGCCTCAGGCAGC c.360
T A T P E T S V K K P K A E Q G A S G S p.120
. . . . . . g.6119
CAGGATCCTGGAAAGCCCAGGGTGGGCAAGAAGGCAGCAGAGGGCCAAGCAGCAGCCAGG c.420
Q D P G K P R V G K K A A E G Q A A A R p.140
. . . . . | 04 . g.7071
AGGGGCTCACCTGCCTTTCTGCATAGCCCCAGCTGTCCTGCCATCATCTCCAG | TTCTGAG c.480
R G S P A F L H S P S C P A I I S S | S E p.160
. . . . . . g.7131
AAGCTGCTGGCCAAGAAGCCCCCAAGCGAGGCATCAGAGCTCACCTTTGAAGGGGTGCCC c.540
K L L A K K P P S E A S E L T F E G V P p.180
. . . . . . g.7191
ATGACCCACAGCCCCACGGATCCCAGGCCAGCCAAGGCAGAAGAAGGAAAGAACATCCTG c.600
M T H S P T D P R P A K A E E G K N I L p.200
. . . . . . g.7251
GCAGAGAGCCAGAAGGAAGTGGGAGAGAAAACCCCAGGCCAGGCTGGCCAGGCTAAGATG c.660
A E S Q K E V G E K T P G Q A G Q A K M p.220
. . . . . . g.7311
CAAGGGGACACCTCGAGGGGGATTGAGTTCCAGGCTGTTCCCTCAGAGAAATCCGAGGTG c.720
Q G D T S R G I E F Q A V P S E K S E V p.240
. . . . . | 05 . g.9110
GGGCAGGCCCTCTGTCTCACAGCCAGGGAGGAGGACTGCTTCCAGATTTTGG | ATGATTGC c.780
G Q A L C L T A R E E D C F Q I L D | D C p.260
. . . . . . g.9170
CCGCCACCTCCGGCCCCCTTCCCTCACCGCATGGTGGAGCTGAGGACCGGGAATGTCAGC c.840
P P P P A P F P H R M V E L R T G N V S p.280
. . . | 06 . . g.9906
AGTGAATTCAGTATGAACTCCAAGGAGGCGCTCGGAGG | TGGCAAGTTTGGGGCAGTCTGT c.900
S E F S M N S K E A L G G | G K F G A V C p.300
. . . . . . g.9966
ACCTGCATGGAGAAAGCCACAGGCCTCAAGCTGGCAGCCAAGGTCATCAAGAAACAGACT c.960
T C M E K A T G L K L A A K V I K K Q T p.320
. | 07 . . . . . g.12278
CCCAAAGACAAG | GAAATGGTGTTGCTGGAGATTGAGGTCATGAACCAGCTGAACCACCGC c.1020
P K D K | E M V L L E I E V M N Q L N H R p.340
. . . . . . g.12338
AATCTGATCCAGCTGTATGCAGCCATCGAGACTCCGCATGAGATCGTCCTGTTCATGGAG c.1080
N L I Q L Y A A I E T P H E I V L F M E p.360
| 08 . . . . . . g.12480
TA | CATCGAGGGCGGAGAGCTCTTCGAGAGGATTGTGGATGAGGACTACCATCTGACCGAG c.1140
Y | I E G G E L F E R I V D E D Y H L T E p.380
. . . . . . g.12540
GTGGACACCATGGTGTTTGTCAGGCAGATCTGTGACGGGATCCTCTTCATGCACAAGATG c.1200
V D T M V F V R Q I C D G I L F M H K M p.400
. . | 09 . . . . g.16480
AGGGTTTTGCACCTGGACCTCAAG | CCAGAGAACATCCTGTGTGTCAACACCACCGGGCAT c.1260
R V L H L D L K | P E N I L C V N T T G H p.420
. . . | 10 . . . g.16663
TTGGTGAAGATCATTGACTTTGGCCTGGCACGGAG | GTATAACCCCAACGAGAAGCTGAAG c.1320
L V K I I D F G L A R R | Y N P N E K L K p.440
. . . . . . g.16723
GTGAACTTTGGGACCCCAGAGTTCCTGTCACCTGAGGTGGTGAATTATGACCAAATCTCC c.1380
V N F G T P E F L S P E V V N Y D Q I S p.460
. . . . | 11 . . g.17344
GATAAGACAGACATGTGGAGTATGGGGGTGATCACCTACATGCT | GCTGAGCGGCCTCTCC c.1440
D K T D M W S M G V I T Y M L | L S G L S p.480
. . . . . . g.17404
CCCTTCCTGGGAGATGATGACACAGAGACCCTAAACAACGTTCTATCTGGCAACTGGTAC c.1500
P F L G D D D T E T L N N V L S G N W Y p.500
. . . . . . g.17464
TTTGATGAAGAGACCTTTGAGGCCGTATCAGACGAGGCCAAAGACTTTGTCTCCAACCTC c.1560
F D E E T F E A V S D E A K D F V S N L p.520
. | 12. . . . . g.17672
ATCGTCAAGGACCAGAG | GGCCCGGATGAACGCTGCCCAGTGTCTCGCCCATCCCTGGCTC c.1620
I V K D Q R | A R M N A A Q C L A H P W L p.540
. . . . . . g.17732
AACAACCTGGCGGAGAAAGCCAAACGCTGTAACCGACGCCTTAAGTCCCAGATCTTGCTT c.1680
N N L A E K A K R C N R R L K S Q I L L p.560
. . . | 13 . . . g.19372
AAGAAATACCTCATGAAGAGGCGCTGGAAG | AAAAACTTCATTGCTGTCAGCGCTGCCAAC c.1740
K K Y L M K R R W K | K N F I A V S A A N p.580
. . . . . g.19423
CGCTTCAAGAAGATCAGCAGCTCGGGGGCACTGATGGCTCTGGGGGTCTGA c.1791
R F K K I S S S G A L M A L G V X p.596
. . . . . . g.19483
gccctgggcgcagctgaagcctggacgcagccacacagtggccggggctgaagccacaca c.*60
. . . . . . g.19543
gcccagaaggccagaaaaggcagccagatccccagggcagcctcgttaggacaaggctgt c.*120
. . . . . . g.19603
gccaggctgggaggctcggggctccccacgcccccatgcagtgaccgcttccccgatgtg c.*180
. . . . . . g.19663
agccgcctcggagtgtggcctggatccatcctgctagcacctccccagacagggctccag c.*240
. . . . . . g.19723
cctgtcggccacaccccagactccaggcccccgttgaagccgctcccggttccctcccca c.*300
. . . . . . g.19783
gctcctcgtctttgaactgccgccgccgtggtgacccctgctttgccccactgggagagt c.*360
. . . . . . g.19843
ccttagcctgggcctcctcctagctggagtgccatggctggggggtctcagcatgtaggg c.*420
. . . . . . g.19903
cttctgtggttgtggatgggaggctcctggtggggcagaaaggctgcaacgctgattcct c.*480
. . . . . . g.19963
aaggcccagctgccagggaagacagagcaggctttgtgagagaggacctccatgcccccg c.*540
. . . . . . g.20023
ccacctccccactccagcagataaggccgagcccacaccatctggcccaggctggccccc c.*600
. . . . . . g.20083
acccaccttccttgcgaccaccaacacacaggaactctgtgtgagagagagggcgcccag c.*660
. . . . . . g.20143
cccaggcctggtggagggggaggggagaagccaagggacacaggagaccacccccgagct c.*720
. . . . . . g.20203
tgcctcagggccaagccggcccaacccaaccactcggggcccccatcttgggggtcaccc c.*780
. . . . . . g.20263
atggcctcagatgatggggtcagcaggcccaggagaattaggaaggccatggggcagcct c.*840
. . . . . . g.20323
ccagtctgctctcagcttgtgccttgtaaataaatgtacaggttggatgtggcctccttc c.*900
(downstream sequence)
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