(used for variant description)
(last modified December 12, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001104.3 in the ACTN3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013304.2, covering ACTN3 transcript NM_001104.3.
(upstream sequence)
. . . g.4958
agtgcgaattcgatctggggctgggctgggccctact c.-61
. . . . . . g.5018
taatggggcccgggtgtccgagagcgtgccgagcggagcgaagccaggagcccgatcgag c.-1
. . . . . . g.5078
ATGATGATGGTTATGCAGCCCGAGGGTCTGGGGGCCGGGGAGGGGCGCTTTGCGGGCGGC c.60
M M M V M Q P E G L G A G E G R F A G G p.20
. . . . . . g.5138
GGCGGGGGCGGCGAGTACATGGAACAGGAGGAGGACTGGGACCGCGACCTGCTGCTGGAC c.120
G G G G E Y M E Q E E D W D R D L L L D p.40
. . | 02. . . . g.9352
CCGGCCTGGGAGAAGCAGCAGCGGAAA | ACCTTCACTGCCTGGTGCAACTCACACCTGCGC c.180
P A W E K Q Q R K | T F T A W C N S H L R p.60
. . . . . . g.9412
AAGGCAGGCACCCAGATCGAGAACATCGAGGAAGATTTCCGCAATGGCCTCAAACTCATG c.240
K A G T Q I E N I E E D F R N G L K L M p.80
. . | 03 . . . . g.9646
CTGCTCCTGGAGGTCATTTCAG | GTGAGAGGCTGCCTAGGCCAGATAAAGGCAAGATGCGC c.300
L L L E V I S G | E R L P R P D K G K M R p.100
. . . . . . g.9706
TTCCACAAAATCGCCAACGTTAACAAGGCCCTGGACTTCATTGCCAGCAAGGGGGTTAAA c.360
F H K I A N V N K A L D F I A S K G V K p.120
. . | 04 . . . . g.12163
CTGGTGTCCATTGGTGCTGAAG | AGATTGTTGACGGGAACCTGAAGATGACCCTGGGCATG c.420
L V S I G A E E | I V D G N L K M T L G M p.140
. . . . | 05 . g.12627
ATCTGGACCATCATCCTTCGCTTCGCCATCCAGGACATCTCTGTGGAAG | AAACCTCAGCC c.480
I W T I I L R F A I Q D I S V E E | T S A p.160
. . . . . . g.12687
AAGGAAGGCTTGCTTCTGTGGTGCCAGAGGAAGACAGCACCGTACCGCAACGTCAACGTG c.540
K E G L L L W C Q R K T A P Y R N V N V p.180
. | 06. . . . . g.13253
CAGAACTTCCACACCAG | CTGGAAGGATGGCCTGGCCCTCTGTGCCCTCATCCACCGACAC c.600
Q N F H T S | W K D G L A L C A L I H R H p.200
. . . | 07 . . . g.13390
CGCCCTGACCTCATCGACTACGCCAAACTGCGAAAG | GATGACCCCATCGGAAACCTGAAC c.660
R P D L I D Y A K L R K | D D P I G N L N p.220
. . . . . | 08 g.14227
ACTGCCTTTGAGGTGGCAGAGAAATACCTGGACATCCCCAAGATGTTGGATGCAGAAG | AC c.720
T A F E V A E K Y L D I P K M L D A E D | p.240
. . . . . . g.14287
ATTGTGAACACCCCAAAGCCGGATGAGAAGGCCATCATGACCTATGTGTCCTGCTTCTAC c.780
I V N T P K P D E K A I M T Y V S C F Y p.260
. . | 09 . . . . g.15249
CATGCCTTTGCCGGGGCTGAGCAG | GCAGAGACAGCTGCCAACAGGATCTGCAAGGTGCTG c.840
H A F A G A E Q | A E T A A N R I C K V L p.280
. . . . . | 10. g.15782
GCAGTGAACCAGGAAAACGAGAAGCTGATGGAGGAGTATGAGAAGCTTGCCAGTGAG | CTG c.900
A V N Q E N E K L M E E Y E K L A S E | L p.300
. . . . . . g.15842
CTGGAGTGGATCCGCCGCACTGTCCCATGGCTGGAGAACCGTGTGGGTGAGCCCAGCATG c.960
L E W I R R T V P W L E N R V G E P S M p.320
. . . . . . g.15902
AGTGCCATGCAGCGCAAACTAGAGGACTTTCGGGACTACCGGCGTCTGCACAAGCCGCCC c.1020
S A M Q R K L E D F R D Y R R L H K P P p.340
. . . . . . g.15962
CGCATTCAGGAAAAGTGCCAGCTGGAGATCAACTTCAACACACTGCAGACCAAGTTGCGG c.1080
R I Q E K C Q L E I N F N T L Q T K L R p.360
. . . . | 11 . g.16119
CTCAGCCACCGGCCTGCCTTCATGCCCTCCGAGGGCAAGCTGGTCTCG | GACATCGCCAAC c.1140
L S H R P A F M P S E G K L V S | D I A N p.380
. . . . . . g.16179
GCCTGGCGGGGGCTGGAGCAGGTGGAAAAGGGCTATGAGGACTGGCTGCTCTCGGAGATC c.1200
A W R G L E Q V E K G Y E D W L L S E I p.400
. . . . . . g.16239
CGGCGCCTGCAGCGACTCCAGCACCTGGCTGAGAAGTTCCGGCAGAAGGCCTCCCTGCAC c.1260
R R L Q R L Q H L A E K F R Q K A S L H p.420
. | 12 . . . . . g.17360
GAAGCCTGGACCCGGG | GAAAGGAGGAGATGCTGAGCCAGCGCGACTACGATTCGGCTTTG c.1320
E A W T R G | K E E M L S Q R D Y D S A L p.440
. . . . . . g.17420
CTACAGGAGGTGCGGGCGTTGCTGCGGCGCCACGAGGCCTTTGAGAGCGACCTGGCGGCG c.1380
L Q E V R A L L R R H E A F E S D L A A p.460
. . . . | 13. . g.18061
CACCAGGACCGCGTGGAGCACATTGCCGCGCTGGCCCAGGAGCTCAA | TGAGCTGGACTAC c.1440
H Q D R V E H I A A L A Q E L N | E L D Y p.480
. . . . . . g.18121
CACGAGGCAGCCTCAGTGAATAGCCGCTGCCAGGCCATCTGCGATCAGTGGGACAACCTG c.1500
H E A A S V N S R C Q A I C D Q W D N L p.500
. . . | 14 . . . g.18275
GGCACCCTGACCCAGAAGAGGCGGGATGCGCTAGAG | CGGATGGAGAAGCTCCTGGAGACC c.1560
G T L T Q K R R D A L E | R M E K L L E T p.520
. . . . . . g.18335
ATTGACCGGCTGCAACTGGAGTTTGCCCGGCGGGCCGCGCCCTTCAACAACTGGCTGGAT c.1620
I D R L Q L E F A R R A A P F N N W L D p.540
. . . . . | 15. g.18656
GGTGCCGTGGAGGACCTGCAGGACGTGTGGCTGGTACACTCTGTGGAGGAGACCCAG | AGC c.1680
G A V E D L Q D V W L V H S V E E T Q | S p.560
. . . . . . g.18716
CTGCTGACAGCGCACGATCAGTTCAAGGCAACACTGCCCGAGGCTGACCGAGAGCGAGGT c.1740
L L T A H D Q F K A T L P E A D R E R G p.580
. . . . . . g.18776
GCCATCATGGGCATCCAGGGTGAGATCCAGAAGATCTGCCAGACGTATGGGCTGCGGCCC c.1800
A I M G I Q G E I Q K I C Q T Y G L R P p.600
. . . . . . g.18836
TGCTCCACCAATCCCTACATCACCCTCAGCCCGCAGGACATCAACACCAAGTGGGATATG c.1860
C S T N P Y I T L S P Q D I N T K W D M p.620
| 16 . . . . . . g.19367
| GTCCGAAAGCTGGTGCCCAGCTGTGACCAGACACTGCAGGAGGAGCTGGCACGGCAGCAG c.1920
| V R K L V P S C D Q T L Q E E L A R Q Q p.640
. . . . . . g.19427
GTAAACGAGAGGCTCCGGCGACAGTTTGCGGCCCAGGCCAATGCCATTGGACCCTGGATC c.1980
V N E R L R R Q F A A Q A N A I G P W I p.660
. | 17 . . . . . g.19583
CAGGCGAAGGTGGAG | GAAGTGGGGCGGCTGGCAGCAGGGCTAGCTGGCTCTCTGGAGGAG c.2040
Q A K V E | E V G R L A A G L A G S L E E p.680
. . . . . . g.19643
CAGATGGCTGGGCTACGGCAGCAGGAGCAGAACATTATCAACTACAAGACTAACATTGAC c.2100
Q M A G L R Q Q E Q N I I N Y K T N I D p.700
. . . . . . g.19703
CGGCTGGAGGGTGACCACCAGCTGCTGCAGGAGAGCCTGGTGTTCGACAATAAGCACACC c.2160
R L E G D H Q L L Q E S L V F D N K H T p.720
. | 18 . . . . . g.20147
GTCTACAGCATGGAG | CACATCCGCGTGGGCTGGGAGCAGCTGCTCACCTCCATTGCCCGC c.2220
V Y S M E | H I R V G W E Q L L T S I A R p.740
. . . . . . g.20207
ACCATCAATGAAGTGGAGAACCAGGTACTGACCCGAGACGCCAAGGGACTGAGCCAGGAG c.2280
T I N E V E N Q V L T R D A K G L S Q E p.760
. . . . | 19 . . g.20355
CAGCTCAACGAGTTCCGAGCATCCTTCAACCACTTTGACAGG | AAGCAGAATGGGATGATG c.2340
Q L N E F R A S F N H F D R | K Q N G M M p.780
. . . . | 20 . g.20888
GAGCCTGATGACTTCCGAGCTTGCCTCATCTCCATGGGCTATGACCTG | GGGGAAGTGGAG c.2400
E P D D F R A C L I S M G Y D L | G E V E p.800
. . . . . . g.20948
TTTGCTCGCATCATGACCATGGTGGACCCCAACGCAGCTGGGGTGGTGACCTTCCAGGCC c.2460
F A R I M T M V D P N A A G V V T F Q A p.820
. . . . . . g.21008
TTCATAGACTTCATGACCCGAGAGACAGCCGAGACTGACACGACTGAGCAAGTTGTAGCT c.2520
F I D F M T R E T A E T D T T E Q V V A p.840
. . | 21. . . . g.21148
TCCTTCAAGATCTTGGCAGGAGACAAG | AACTACATCACCCCCGAGGAGCTGCGGCGCGAG c.2580
S F K I L A G D K | N Y I T P E E L R R E p.860
. . . . . . g.21208
CTCCCTGCCAAGCAGGCCGAGTACTGCATCCGCCGTATGGTGCCCTACAAGGGATCCGGG c.2640
L P A K Q A E Y C I R R M V P Y K G S G p.880
. . . . . . g.21268
GCCCCGGCTGGAGCCCTGGACTACGTGGCCTTCTCCAGTGCCCTCTATGGGGAGAGCGAC c.2700
A P A G A L D Y V A F S S A L Y G E S D p.900
g.21274
CTTTGA c.2706
L X p.901
. . . . . . g.21334
ccccaaccactgaggttctctatgcaagatggagagaggatgcaccctgtggctgatccc c.*60
. . . . . . g.21394
atccgtccctcggagcaagggcctaagagaaaagccagccaagtgcttctgaataaagat c.*120
. g.21410
ccctctctgggtctct c.*136
(downstream sequence)
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