(used for mutation description)
(last modified July 23, 2010)
This file was created to facilitate the description of sequence variants in the MYH7 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_007884.1, covering MYH7 transcript NM_000257.2.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . | 02 g.6416
cacagctctgtcctgctctgtgtctttccctgctgctctcag | gtcc c.-61
. . . . . . | 03 g.6929
cctgcaggccttggcccctttcctcatctgtagacacacttgagtagcccag | gcacagcc c.-1
. . . . . . g.6989
ATGGGAGATTCGGAGATGGCAGTCTTTGGGGCTGCCGCCCCCTACCTGCGCAAGTCAGAG c.60
M G D S E M A V F G A A A P Y L R K S E p.20
. . . . . . g.7049
AAGGAGCGGCTAGAAGCGCAGACCAGGCCTTTTGACCTCAAGAAGGATGTCTTCGTGCCT c.120
K E R L E A Q T R P F D L K K D V F V P p.40
. . . . . . g.7109
GATGACAAACAGGAGTTTGTCAAGGCCAAGATCGTGTCTCGAGAGGGTGGCAAAGTCACT c.180
D D K Q E F V K A K I V S R E G G K V T p.60
. . | 04 . . . . g.7473
GCCGAGACCGAGTATGGCAAG | ACAGTGACCGTGAAGGAGGACCAGGTGATGCAGCAGAAC c.240
A E T E Y G K | T V T V K E D Q V M Q Q N p.80
. . . . . . g.7533
CCACCCAAGTTCGACAAAATCGAGGACATGGCCATGCTGACCTTCCTGCATGAGCCCGCG c.300
P P K F D K I E D M A M L T F L H E P A p.100
. . . . | 05 . . g.7881
GTGCTCTACAACCTCAAGGATCGCTACGGCTCCTGGATGATCTAC | ACCTACTCGGGCCTC c.360
V L Y N L K D R Y G S W M I Y | T Y S G L p.120
. . . . . . g.7941
TTCTGTGTCACCGTCAACCCTTACAAGTGGCTGCCGGTGTACACTCCTGAGGTGGTGGCT c.420
F C V T V N P Y K W L P V Y T P E V V A p.140
. . . . . . g.8001
GCCTACCGGGGCAAGAAGAGGAGCGAGGCCCCGCCCCACATCTTCTCCATCTCCGACAAC c.480
A Y R G K K R S E A P P H I F S I S D N p.160
. . | 06 . . . | 07 . g.8802
GCCTATCAGTACATGCTGACAG | ACAGAGAAAACCAGTCCATCCTGATCAC | CGGAGAATCC c.540
A Y Q Y M L T D | R E N Q S I L I T | G E S p.180
. . . . . . g.8862
GGAGCAGGGAAGACAGTCAACACCAAGAGGGTCATCCAGTACTTTGCTGTTATTGCAGCC c.600
G A G K T V N T K R V I Q Y F A V I A A p.200
. . . | 08 . . g.9005
ATTGGGGACCGCAGCAAGAAGGACCAGAGCCCGGGCAAG | GGCACCCTGGAGGACCAGATC c.660
I G D R S K K D Q S P G K | G T L E D Q I p.220
. . . . . . g.9065
ATCCAGGCCAACCCTGCTCTGGAGGCCTTTGGCAATGCCAAGACCGTCCGGAACGACAAC c.720
I Q A N P A L E A F G N A K T V R N D N p.240
. | 09 . . . . . g.9228
TCCTCCCGCTTC | GGGAAATTCATTCGAATTCATTTTGGGGCAACAGGAAAGTTGGCATCT c.780
S S R F | G K F I R I H F G A T G K L A S p.260
. | 10 . . . . . g.9706
GCAGACATAGAGACCT | ATCTTCTGGAAAAATCCAGAGTTATTTTCCAGCTGAAAGCAGAG c.840
A D I E T Y | L L E K S R V I F Q L K A E p.280
. . . . . | 11 . g.10003
AGAGATTATCACATTTTCTACCAAATCCTGTCTAACAAAAAGCCTGAGCTGCTGG | ACATG c.900
R D Y H I F Y Q I L S N K K P E L L D | M p.300
. . . . . . g.10063
CTGCTGATCACCAACAACCCCTACGATTATGCATTCATCTCCCAAGGAGAGACCACCGTG c.960
L L I T N N P Y D Y A F I S Q G E T T V p.320
. . . | 12 . . g.10769
GCCTCCATTGATGACGCTGAGGAGCTCATGGCCACTGAT | AACGCTTTTGATGTGCTGGGC c.1020
A S I D D A E E L M A T D | N A F D V L G p.340
. . . . . . g.10829
TTCACTTCAGAGGAGAAAAACTCCATGTATAAGCTGACAGGCGCCATCATGCACTTTGGA c.1080
F T S E E K N S M Y K L T G A I M H F G p.360
. . . . . | 13 g.11316
AACATGAAGTTCAAGCTGAAGCAGCGGGAGGAGCAGGCGGAGCCAGACGGCACTGAAG | AG c.1140
N M K F K L K Q R E E Q A E P D G T E E | p.380
. . . . . . g.11376
GCTGACAAGTCTGCCTACCTCATGGGGCTGAACTCAGCCGACCTGCTCAAGGGGCTGTGC c.1200
A D K S A Y L M G L N S A D L L K G L C p.400
. . . . . | 14. g.11560
CACCCTCGGGTGAAAGTGGGCAATGAGTACGTCACCAAGGGGCAGAATGTCCAGCAG | GTG c.1260
H P R V K V G N E Y V T K G Q N V Q Q | V p.420
. . . . . . g.11620
ATATATGCCACTGGGGCACTGGCCAAGGCAGTGTATGAGAGGATGTTCAACTGGATGGTG c.1320
I Y A T G A L A K A V Y E R M F N W M V p.440
. . . . . . g.11680
ACGCGCATCAATGCCACCCTGGAGACCAAGCAGCCACGCCAGTACTTCATAGGAGTCCTG c.1380
T R I N A T L E T K Q P R Q Y F I G V L p.460
. . | 15. . . . g.12024
GACATCGCTGGCTTCGAGATCTTCGAT | TTCAACAGCTTTGAGCAGCTCTGCATCAACTTC c.1440
D I A G F E I F D | F N S F E Q L C I N F p.480
. . . . . . g.12084
ACCAACGAGAAGCTGCAGCAGTTCTTCAACCACCACATGTTTGTGCTGGAGCAGGAGGAG c.1500
T N E K L Q Q F F N H H M F V L E Q E E p.500
. . . . . . g.12144
TACAAGAAGGAGGGCATCGAGTGGACATTCATTGACTTTGGCATGGACCTGCAGGCCTGC c.1560
Y K K E G I E W T F I D F G M D L Q A C p.520
. | 16 . . . . g.12809
ATTGACCTCATCGAGAAG | CCCATGGGCATCATGTCCATCCTGGAAGAGGAGTGCATGTTC c.1620
I D L I E K | P M G I M S I L E E E C M F p.540
. . . . . . g.12869
CCCAAGGCCACCGACATGACCTTCAAGGCCAAGCTGTTTGACAACCACCTGGGCAAATCC c.1680
P K A T D M T F K A K L F D N H L G K S p.560
. . . . . . g.12929
GCCAACTTCCAGAAGCCACGCAATATCAAGGGGAAGCCTGAAGCCCACTTCTCCCTGATC c.1740
A N F Q K P R N I K G K P E A H F S L I p.580
. . . . . . g.12989
CACTATGCCGGCATCGTGGACTACAACATCATTGGCTGGCTGCAGAAGAACAAGGATCCT c.1800
H Y A G I V D Y N I I G W L Q K N K D P p.600
. . . . . . g.13049
CTCAATGAGACTGTCGTGGGCTTGTATCAGAAGTCTTCCCTCAAGCTGCTCAGCACCCTG c.1860
L N E T V V G L Y Q K S S L K L L S T L p.620
. . | 17 . . . g.13386
TTTGCCAACTATGCTGGGGCTGATGCGC | CTATTGAGAAGGGCAAAGGCAAGGCCAAGAAA c.1920
F A N Y A G A D A P | I E K G K G K A K K p.640
. . . | 18 . . . g.13821
GGCTCGTCCTTTCAGACTGTGTCAGCTCTGCACAGG | GAAAATCTGAACAAGCTGATGACC c.1980
G S S F Q T V S A L H R | E N L N K L M T p.660
. . . . . . g.13881
AACTTGCGCTCCACCCATCCCCACTTTGTACGTTGTATCATCCCTAATGAGACAAAGTCT c.2040
N L R S T H P H F V R C I I P N E T K S p.680
| 19 . . . . . . g.14636
CCAG | GGGTGATGGACAACCCCCTGGTCATGCACCAGCTGCGCTGCAATGGTGTGCTGGAG c.2100
P G | V M D N P L V M H Q L R C N G V L E p.700
. . . . . . g.14696
GGCATCCGCATCTGCAGGAAAGGCTTCCCCAACCGCATCCTCTACGGGGACTTCCGGCAG c.2160
G I R I C R K G F P N R I L Y G D F R Q p.720
| 20 . . . . . . g.14901
AG | GTATCGCATCCTGAACCCAGCGGCCATCCCTGAGGGACAGTTCATTGATAGCAGGAAG c.2220
R | Y R I L N P A A I P E G Q F I D S R K p.740
. . . . . . g.14961
GGGGCAGAGAAGCTGCTCAGCTCCCTGGACATTGATCACAACCAGTACAAGTTTGGCCAC c.2280
G A E K L L S S L D I D H N Q Y K F G H p.760
| 21 . . . . . . g.15297
ACCAAG | GTGTTCTTCAAGGCCGGGCTGCTGGGGCTGCTGGAGGAAATGAGGGACGAGAGG c.2340
T K | V F F K A G L L G L L E E M R D E R p.780
. . . . . . g.15357
CTGAGCCGCATCATCACGCGTATCCAGGCCCAGTCCCGAGGTGTGCTCGCCAGAATGGAG c.2400
L S R I I T R I Q A Q S R G V L A R M E p.800
. . | 22 . . . . g.15674
TACAAAAAGCTGCTGGAACGTAG | AGACTCCCTGCTGGTAATCCAGTGGAACATTCGGGCC c.2460
Y K K L L E R R | D S L L V I Q W N I R A p.820
. . . . . . g.15734
TTCATGGGGGTCAAGAATTGGCCCTGGATGAAGCTCTACTTCAAGATCAAGCCGCTGCTG c.2520
F M G V K N W P W M K L Y F K I K P L L p.840
. . . . . . g.15794
AAGAGTGCAGAAAGAGAGAAGGAGATGGCCTCCATGAAGGAGGAGTTCACACGCCTCAAA c.2580
K S A E R E K E M A S M K E E F T R L K p.860
. . . . . . g.15854
GAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTG c.2640
E A L E K S E A R R K E L E E K M V S L p.880
. . . | 23 . . g.16533
CTGCAGGAGAAGAATGACCTGCAGCTCCAAGTGCAGGCG | GAACAAGACAACCTGGCAGAT c.2700
L Q E K N D L Q L Q V Q A | E Q D N L A D p.900
. . . . . . g.16593
GCTGAGGAGCGCTGTGATCAGCTGATCAAAAACAAGATTCAGCTGGAGGCCAAGGTGAAG c.2760
A E E R C D Q L I K N K I Q L E A K V K p.920
. . . . . . g.16653
GAGATGAACGAGAGGCTGGAGGATGAGGAGGAGATGAATGCTGAGCTCACTGCCAAGAAG c.2820
E M N E R L E D E E E M N A E L T A K K p.940
. . . . . . g.16713
CGCAAGCTGGAAGATGAGTGCTCAGAGCTCAAAAGGGACATCGATGATCTGGAGCTGACA c.2880
R K L E D E C S E L K R D I D D L E L T p.960
. . . . | 24 . . g.16956
CTGGCCAAAGTGGAGAAGGAGAAACACGCAACAGAGAACAAG | GTGAAAAACCTGACAGAG c.2940
L A K V E K E K H A T E N K | V K N L T E p.980
. . . . . . g.17016
GAGATGGCTGGGCTGGATGAGATCATTGCCAAGCTGACCAAGGAGAAGAAAGCTCTGCAA c.3000
E M A G L D E I I A K L T K E K K A L Q p.1000
. . . . . . g.17076
GAGGCCCACCAACAGGCTCTGGATGACCTTCAGGCCGAGGAGGACAAGGTCAACACCCTG c.3060
E A H Q Q A L D D L Q A E E D K V N T L p.1020
. . . | 25 . . g.18357
ACTAAGGCCAAAGTCAAGCTGGAGCAGCAAGTGGATGAT | CTGGAAGGATCCCTGGAGCAA c.3120
T K A K V K L E Q Q V D D | L E G S L E Q p.1040
. . . . . . g.18417
GAGAAGAAGGTGCGCATGGACCTGGAGCGAGCGAAGCGGAAGCTGGAGGGCGACCTGAAG c.3180
E K K V R M D L E R A K R K L E G D L K p.1060
. . . . . . g.18477
CTGACCCAGGAGAGCATCATGGACCTGGAGAATGACAAGCAGCAGCTGGATGAGCGGCTG c.3240
L T Q E S I M D L E N D K Q Q L D E R L p.1080
| 26 . . . . . . g.19668
AAAAA | AAAAGACTTTGAGCTGAATGCTCTCAACGCAAGGATTGAGGATGAACAGGCCCTC c.3300
K K | K D F E L N A L N A R I E D E Q A L p.1100
. . . | 27 . . . g.20451
GGCAGCCAGCTGCAGAAGAAGCTCAAGGAGCTTCAG | GCACGCATCGAGGAGCTGGAGGAG c.3360
G S Q L Q K K L K E L Q | A R I E E L E E p.1120
. . . . . . g.20511
GAGCTGGAGGCCGAGCGCACCGCCAGGGCTAAGGTGGAGAAGCTGCGCTCAGACCTGTCT c.3420
E L E A E R T A R A K V E K L R S D L S p.1140
. . . . . . g.20571
CGGGAGCTGGAGGAGATCAGCGAGCGGCTGGAAGAGGCCGGCGGGGCCACGTCCGTGCAG c.3480
R E L E E I S E R L E E A G G A T S V Q p.1160
. . . . . . g.20631
ATCGAGATGAACAAGAAGCGCGAGGCCGAGTTCCAGAAGATGCGGCGGGACCTGGAGGAG c.3540
I E M N K K R E A E F Q K M R R D L E E p.1180
. . . . . . g.20691
GCCACGCTGCAGCACGAGGCCACTGCCGCGGCCCTGCGCAAGAAGCACGCCGACAGCGTG c.3600
A T L Q H E A T A A A L R K K H A D S V p.1200
. . . . . . g.20751
GCCGAGCTGGGCGAGCAGATCGACAACCTGCAGCGGGTGAAGCAGAAGCTGGAGAAGGAG c.3660
A E L G E Q I D N L Q R V K Q K L E K E p.1220
. . . . . . g.20811
AAGAGCGAGTTCAAGCTGGAGCTGGATGACGTCACCTCCAACATGGAGCAGATCATCAAG c.3720
K S E F K L E L D D V T S N M E Q I I K p.1240
| 28 . . . . . . g.21106
GCCAAG | GCTAACCTGGAGAAGATGTGCCGGACCTTGGAAGACCAGATGAATGAGCACCGG c.3780
A K | A N L E K M C R T L E D Q M N E H R p.1260
. . . . . . g.21166
AGCAAGGCGGAGGAGACCCAGCGTTCTGTCAACGACCTCACCAGCCAGCGGGCCAAGTTG c.3840
S K A E E T Q R S V N D L T S Q R A K L p.1280
. | 29 . . . . . g.21413
CAAACCGAGAATG | GTGAGCTGTCCCGGCAGCTGGATGAGAAGGAGGCACTGATCTCCCAG c.3900
Q T E N G | E L S R Q L D E K E A L I S Q p.1300
. . . . . . g.21473
CTGACCCGAGGCAAGCTCACCTACACCCAGCAGCTGGAGGACCTCAAGAGGCAGCTGGAG c.3960
L T R G K L T Y T Q Q L E D L K R Q L E p.1320
. | 30 . . . . . g.22303
GAGGAGGTTAAG | GCGAAGAACGCCCTGGCCCACGCACTGCAGTCGGCCCGGCATGACTGC c.4020
E E V K | A K N A L A H A L Q S A R H D C p.1340
. . . . . . g.22363
GACCTGCTGCGGGAGCAGTACGAGGAGGAGACGGAGGCCAAGGCCGAGCTGCAGCGCGTC c.4080
D L L R E Q Y E E E T E A K A E L Q R V p.1360
. . . . . . g.22423
CTTTCCAAGGCCAACTCGGAGGTGGCCCAGTGGAGGACCAAGTATGAGACGGACGCCATT c.4140
L S K A N S E V A Q W R T K Y E T D A I p.1380
. . | 31 . . . g.23006
CAGCGGACTGAGGAGCTCGAGGAGGCCAA | GAAGAAGCTGGCCCAGCGGCTGCAGGAAGCT c.4200
Q R T E E L E E A K | K K L A Q R L Q E A p.1400
. . . . . . g.23066
GAGGAGGCCGTGGAGGCTGTTAATGCCAAGTGCTCCTCGCTGGAGAAGACCAAGCACCGG c.4260
E E A V E A V N A K C S S L E K T K H R p.1420
. . . . . . g.23126
CTACAGAATGAGATCGAGGACTTGATGGTGGACGTAGAGCGCTCCAATGCTGCTGCTGCA c.4320
L Q N E I E D L M V D V E R S N A A A A p.1440
. . . | 32 . . . g.23370
GCCCTGGACAAGAAGCAGAGGAACTTCGACAAG | ATCCTGGCCGAGTGGAAGCAGAAGTAT c.4380
A L D K K Q R N F D K | I L A E W K Q K Y p.1460
. . . . . . g.23430
GAGGAGTCGCAGTCGGAGCTGGAGTCCTCGCAGAAGGAGGCTCGCTCCCTCAGCACAGAG c.4440
E E S Q S E L E S S Q K E A R S L S T E p.1480
. . . . . . g.23490
CTCTTCAAACTCAAGAACGCCTATGAGGAGTCCCTGGAACATCTGGAGACCTTCAAGCGG c.4500
L F K L K N A Y E E S L E H L E T F K R p.1500
. | 33 . . . . g.23710
GAGAACAAAAACCTGCAGG | AGGAGATCTCCGACTTGACTGAGCAGTTGGGTTCCAGCGGA c.4560
E N K N L Q E | E I S D L T E Q L G S S G p.1520
. . . . . . g.23770
AAGACTATCCATGAGCTGGAGAAGGTCCGAAAGCAGCTGGAGGCCGAGAAGATGGAGCTG c.4620
K T I H E L E K V R K Q L E A E K M E L p.1540
. . | 34 . . . . g.24385
CAGTCAGCCCTGGAGGAGGCCGAG | GCCTCCCTGGAGCACGAGGAGGGCAAGATCCTCCGG c.4680
Q S A L E E A E | A S L E H E E G K I L R p.1560
. . . . . . g.24445
GCCCAGCTGGAGTTCAACCAGATCAAGGCAGAGATCGAGCGGAAGCTGGCAGAGAAGGAC c.4740
A Q L E F N Q I K A E I E R K L A E K D p.1580
. . . . . . g.24505
GAGGAGATGGAACAGGCCAAGCGCAACCACCTGCGGGTGGTGGACTCGCTGCAGACCTCC c.4800
E E M E Q A K R N H L R V V D S L Q T S p.1600
. . . . . . g.24565
CTGGACGCAGAGACACGCAGCCGCAACGAGGCCCTGAGGGTGAAGAAGAAGATGGAAGGA c.4860
L D A E T R S R N E A L R V K K K M E G p.1620
. . . . . . g.24625
GACCTCAATGAGATGGAGATCCAGCTCAGCCACGCCAACCGCATGGCCGCCGAGGCCCAG c.4920
D L N E M E I Q L S H A N R M A A E A Q p.1640
. . . | 35 . . . g.24856
AAGCAAGTCAAGAGCCTCCAGAGCTTGTTGAAG | GACACCCAGATTCAGCTGGACGATGCA c.4980
K Q V K S L Q S L L K | D T Q I Q L D D A p.1660
. . . . . . g.24916
GTCCGTGCCAACGACGACCTGAAGGAGAACATCGCCATCGTGGAGCGGCGCAACAACCTG c.5040
V R A N D D L K E N I A I V E R R N N L p.1680
. . . . . . g.24976
CTGCAGGCTGAGCTGGAGGAGTTGCGTGCCGTGGTGGAGCAGACAGAGCGGTCCCGGAAG c.5100
L Q A E L E E L R A V V E Q T E R S R K p.1700
. . . . . | 36. g.25158
CTGGCGGAGCAGGAGCTGATTGAGACTAGTGAGCGGGTGCAGCTGCTGCATTCCCAG | AAC c.5160
L A E Q E L I E T S E R V Q L L H S Q | N p.1720
. . . . . . g.25218
ACCAGCCTCATCAACCAGAAGAAGAAGATGGATGCTGACCTGTCCCAGCTCCAGACTGAA c.5220
T S L I N Q K K K M D A D L S Q L Q T E p.1740
. . . . . . g.25278
GTGGAGGAGGCAGTGCAGGAGTGCAGGAATGCTGAGGAGAAGGCCAAGAAGGCCATCACG c.5280
V E E A V Q E C R N A E E K A K K A I T p.1760
| 37 . . . . . . g.25448
GAT | GCCGCCATGATGGCAGAGGAGCTGAAGAAGGAGCAGGACACCAGCGCCCACCTGGAG c.5340
D | A A M M A E E L K K E Q D T S A H L E p.1780
. . . . . . g.25508
CGCATGAAGAAGAACATGGAACAGACCATTAAGGACCTGCAGCACCGGCTGGACGAAGCC c.5400
R M K K N M E Q T I K D L Q H R L D E A p.1800
. . . . . . g.25568
GAGCAGATCGCCCTCAAGGGCGGCAAGAAGCAGCTGCAGAAGCTGGAAGCGCGGGTGCGG c.5460
E Q I A L K G G K K Q L Q K L E A R V R p.1820
. . . . . . g.25628
GAGCTGGAGAATGAGCTGGAGGCCGAGCAGAAGCGCAACGCAGAGTCGGTGAAGGGCATG c.5520
E L E N E L E A E Q K R N A E S V K G M p.1840
. . . | 38 . . g.26580
AGGAAGAGCGAGCGGCGCATCAAGGAGCTCACCTACCAG | ACGGAGGAGGACAGGAAAAAC c.5580
R K S E R R I K E L T Y Q | T E E D R K N p.1860
. . . . . . g.26640
CTGCTGCGGCTGCAGGACCTGGTAGACAAGCTGCAGCTAAAGGTCAAGGCCTACAAGCGC c.5640
L L R L Q D L V D K L Q L K V K A Y K R p.1880
. | 39 . . . . . g.26813
CAGGCCGAGGAGGCG | GAGGAGCAAGCCAACACCAACCTGTCCAAGTTCCGCAAGGTGCAG c.5700
Q A E E A | E E Q A N T N L S K F R K V Q p.1900
. . . . . . g.26873
CACGAGCTGGATGAGGCAGAGGAGCGGGCGGACATCGCCGAGTCCCAGGTCAACAAGCTG c.5760
H E L D E A E E R A D I A E S Q V N K L p.1920
. . . | 40 . g.27820
CGGGCCAAGAGCCGTGACATTGGCACGAAG | GGCTTGAATGAGGAGTAG c.5808
R A K S R D I G T K | G L N E E X p.1935
. . . . . . g.27880
ctttgccacatcttgatctgctcagccctggaggtgccagcaaagccccatgctggagcc c.*60
. . . . . g.27936
tgtgtaacagctccttgggaggaagcagaataaagcaattttccttgaagccgaga c.*116
(downstream sequence)
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