(used for mutation description)
(last modified February 12, 2011)
This file was created to facilitate the description of sequence variants in the MUSK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016016.1, covering MUSK transcript NM_005592.3.
(upstream sequence)
. g.5014
gtggagctgctgac c.-121
. . . . . . g.5074
acaaacagtcattagcagacaacccttttgcaacaaagtatgctttaaaatgtaaactgt c.-61
. . . . . . g.5134
ggagccattttccttgcgttgtccagaaggaacttcgtcctgcgtgagcctggattaatc c.-1
. . . . . . g.5194
ATGAGAGAGCTCGTCAACATTCCACTGGTACATATTCTTACTCTGGTTGCCTTCAGCGGA c.60
M R E L V N I P L V H I L T L V A F S G p.20
. | 02 . . . . g.18944
ACTGAGAAACTTCCAAAAG | CTCCTGTCATCACCACTCCTCTTGAAACAGTGGATGCCTTA c.120
T E K L P K A | P V I T T P L E T V D A L p.40
. . . . . . g.19004
GTTGAAGAAGTGGCTACTTTCATGTGTGCAGTGGAATCCTACCCCCAGCCTGAGATTTCC c.180
V E E V A T F M C A V E S Y P Q P E I S p.60
. . | 03 . . . . g.23380
TGGACTAGAAATAAAATTCTCATTAA | ACTCTTTGACACCCGGTACAGCATCCGGGAGAAT c.240
W T R N K I L I K | L F D T R Y S I R E N p.80
. . . . . . g.23440
GGGCAGCTCCTCACCATCCTGAGTGTGGAAGACAGTGATGATGGCATTTACTGCTGCACG c.300
G Q L L T I L S V E D S D D G I Y C C T p.100
. . . . . | 04 g.31634
GCCAACAATGGTGTGGGAGGAGCTGTGGAGAGTTGTGGAGCCCTGCAAGTGAAGATGA | AA c.360
A N N G V G G A V E S C G A L Q V K M K | p.120
. . . . . . g.31694
CCTAAAATAACTCGTCCTCCCATAAATGTGAAAATAATAGAGGGATTAAAAGCAGTCCTA c.420
P K I T R P P I N V K I I E G L K A V L p.140
. . . . . . g.31754
CCATGTACTACAATGGGTAATCCCAAACCATCAGTGTCTTGGATAAAGGGAGACAGCCCT c.480
P C T T M G N P K P S V S W I K G D S P p.160
| 05 . . . . . . g.33608
CTCAGG | GAAAATTCCCGAATTGCAGTTCTTGAATCTGGGAGCTTGAGGATTCATAACGTA c.540
L R | E N S R I A V L E S G S L R I H N V p.180
. . . . . . g.33668
CAAAAGGAAGATGCAGGACAGTATCGATGTGTGGCAAAAAACAGCCTCGGGACAGCATAT c.600
Q K E D A G Q Y R C V A K N S L G T A Y p.200
. . | 06 . . . g.70512
TCCAAAGTGGTGAAGCTGGAAGTTGAGG | TTTTTGCCAGGATCCTGCGGGCTCCTGAATCC c.660
S K V V K L E V E V | F A R I L R A P E S p.220
. . . . . . g.70572
CACAATGTCACCTTTGGCTCCTTTGTGACCCTGCACTGTACAGCAACAGGCATTCCTGTC c.720
H N V T F G S F V T L H C T A T G I P V p.240
. . . | 07 . . . g.83897
CCCACCATCACCTGGATTGAAAACGGAAATGCT | GTTTCTTCTGGGTCCATTCAAGAGAGT c.780
P T I T W I E N G N A | V S S G S I Q E S p.260
. . . . . . g.83957
GTGAAAGACCGAGTGATTGACTCAAGACTGCAGCTGTTTATCACCAAGCCAGGACTCTAC c.840
V K D R V I D S R L Q L F I T K P G L Y p.280
. . . . . . g.84017
ACATGCATAGCTACCAATAAGCATGGGGAGAAGTTCAGTACTGCCAAGGCTGCAGCCACC c.900
T C I A T N K H G E K F S T A K A A A T p.300
. | 08 . | 09 . . . . g.104089
ATCAGCATAGCAG | AATGGAG | TAAACCACAGAAAGATAACAAAGGCTACTGCGCCCAGTAC c.960
I S I A E | W S | K P Q K D N K G Y C A Q Y p.320
. . . . . . g.104149
AGAGGGGAGGTGTGTAATGCAGTCCTGGCAAAAGATGCTCTTGTTTTTCTCAACACCTCC c.1020
R G E V C N A V L A K D A L V F L N T S p.340
. . . . . . g.104209
TATGCGGACCCTGAGGAGGCCCAAGAGCTACTGGTCCACACGGCCTGGAATGAACTGAAA c.1080
Y A D P E E A Q E L L V H T A W N E L K p.360
. . . . . . g.104269
GTAGTGAGCCCAGTCTGCCGGCCAGCTGCTGAGGCTTTGTTGTGTAACCACATCTTCCAG c.1140
V V S P V C R P A A E A L L C N H I F Q p.380
. . . . | 10 . . g.112033
GAGTGCAGTCCTGGAGTAGTGCCTACTCCTATTCCCATTTGCAG | AGAGTACTGCTTGGCA c.1200
E C S P G V V P T P I P I C R | E Y C L A p.400
. . . . . . g.112093
GTAAAGGAGCTCTTCTGCGCAAAAGAATGGCTGGTAATGGAAGAGAAGACCCACAGAGGA c.1260
V K E L F C A K E W L V M E E K T H R G p.420
. . . . . . g.112153
CTCTACAGATCCGAGATGCATTTGCTGTCCGTGCCAGAATGCAGCAAGCTTCCCAGCATG c.1320
L Y R S E M H L L S V P E C S K L P S M p.440
. . . . | 11 . . g.112881
CATTGGGACCCCACGGCCTGTGCCAGACTGCCACATCTAG | ATTATAACAAAGAAAACCTA c.1380
H W D P T A C A R L P H L D | Y N K E N L p.460
| 12 . . . . . . g.121100
AAAA | CATTCCCACCAATGACGTCCTCAAAGCCAAGTGTGGACATTCCAAATCTGCCTTCC c.1440
K T | F P P M T S S K P S V D I P N L P S p.480
. . . . . . g.121160
TCCTCCTCTTCTTCCTTCTCTGTCTCACCTACATACTCCATGACTGTAATAATCTCCATC c.1500
S S S S S F S V S P T Y S M T V I I S I p.500
. . . . . . g.121220
ATGTCCAGCTTTGCAATATTTGTGCTTCTTACCATAACTACTCTCTATTGCTGCCGAAGA c.1560
M S S F A I F V L L T I T T L Y C C R R p.520
. . | 13 . . . . g.121790
AGAAAACAATGGAAAAATAAGAAAAG | AGAATCAGCAGCAGTAACCCTCACCACACTGCCT c.1620
R K Q W K N K K R | E S A A V T L T T L P p.540
. . . . . . g.121850
TCTGAGCTCTTACTAGATAGACTTCATCCCAACCCCATGTACCAGAGGATGCCGCTCCTT c.1680
S E L L L D R L H P N P M Y Q R M P L L p.560
. . . . . . g.121910
CTGAACCCCAAATTGCTCAGCCTGGAGTATCCAAGGAATAACATTGAATATGTGAGAGAC c.1740
L N P K L L S L E Y P R N N I E Y V R D p.580
. . . | 14 . . g.123941
ATCGGAGAGGGAGCGTTTGGAAGGGTGTTTCAAGCAAG | GGCACCAGGCTTACTTCCCTAT c.1800
I G E G A F G R V F Q A R | A P G L L P Y p.600
. . . . . . g.124001
GAACCTTTCACTATGGTGGCAGTAAAGATGCTCAAAGAAGAAGCCTCGGCAGATATGCAA c.1860
E P F T M V A V K M L K E E A S A D M Q p.620
. . . . . . g.124061
GCGGACTTTCAGAGGGAGGCAGCCCTCATGGCAGAATTTGACAACCCTAACATTGTGAAG c.1920
A D F Q R E A A L M A E F D N P N I V K p.640
| 15. . . . . . g.136588
CTATTAG | GAGTGTGTGCTGTCGGGAAGCCAATGTGCCTGCTCTTTGAATACATGGCCTAT c.1980
L L G | V C A V G K P M C L L F E Y M A Y p.660
. . . . . . g.136648
GGTGACCTCAATGAGTTCCTCCGCAGCATGTCCCCTCACACCGTGTGCAGCCTCAGTCAC c.2040
G D L N E F L R S M S P H T V C S L S H p.680
. . . . . . g.136708
AGTGACTTGTCTATGAGGGCTCAGGTCTCCAGCCCTGGGCCCCCACCCCTCTCCTGTGCT c.2100
S D L S M R A Q V S S P G P P P L S C A p.700
. . . . . . g.136768
GAGCAGCTTTGCATTGCCAGGCAGGTGGCAGCTGGCATGGCTTACCTCTCAGAACGTAAG c.2160
E Q L C I A R Q V A A G M A Y L S E R K p.720
. . . . . . g.136828
TTTGTTCACCGAGATTTAGCCACCAGGAACTGCCTGGTGGGCGAGAACATGGTGGTGAAA c.2220
F V H R D L A T R N C L V G E N M V V K p.740
. . . . . . g.136888
ATTGCCGACTTTGGCCTCTCCAGGAACATCTACTCAGCAGACTACTACAAAGCTAATGAA c.2280
I A D F G L S R N I Y S A D Y Y K A N E p.760
. . . . . . g.136948
AACGACGCTATCCCTATCCGTTGGATGCCACCAGAGTCCATTTTTTATAACCGCTACACT c.2340
N D A I P I R W M P P E S I F Y N R Y T p.780
. . . . . . g.137008
ACAGAGTCTGATGTGTGGGCCTATGGCGTGGTCCTCTGGGAGATCTTCTCCTATGGCCTG c.2400
T E S D V W A Y G V V L W E I F S Y G L p.800
. . . . . . g.137068
CAGCCCTACTATGGGATGGCCCATGAGGAGGTCATTTACTACGTGCGAGATGGCAACATC c.2460
Q P Y Y G M A H E E V I Y Y V R D G N I p.820
. . . . . . g.137128
CTCTCCTGCCCTGAGAACTGCCCCGTGGAGCTGTACAATCTCATGCGTCTATGTTGGAGC c.2520
L S C P E N C P V E L Y N L M R L C W S p.840
. . . . . . g.137188
AAGCTGCCTGCAGACAGACCCAGTTTCACCAGTATTCACCGAATTCTGGAACGCATGTGT c.2580
K L P A D R P S F T S I H R I L E R M C p.860
. . . g.137218
GAGAGGGCAGAGGGAACTGTGAGTGTCTAA c.2610
E R A E G T V S V X p.869
. g.137228
ggttgaagac c.*10
(downstream sequence)
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