(used for variant description)
(last modified April 16, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_002470.3 in the MYH3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011537.1, covering MYH3 transcript NM_002470.3.
(upstream sequence)
. . | 02 g.6157
gtggctcgcttgtgggcggag | gtctggg c.-61
. . . . . . | 03 g.7234
atctcctggctgttgctgtcttctgctctcatcctgcaggtgggactctcag | ctgacacc c.-1
. . . . . . g.7294
ATGAGTAGTGACACTGAAATGGAAGTGTTCGGCATAGCTGCTCCTTTCCTCCGGAAGTCA c.60
M S S D T E M E V F G I A A P F L R K S p.20
. . . . . . g.7354
GAAAAGGAGAGGATCGAGGCTCAGAACCAGCCCTTTGATGCCAAGACGTATTGCTTCGTG c.120
E K E R I E A Q N Q P F D A K T Y C F V p.40
. . . . . . g.7414
GTGGACTCAAAGGAAGAATATGCCAAGGGGAAAATCAAGAGTTCTCAGGATGGGAAGGTC c.180
V D S K E E Y A K G K I K S S Q D G K V p.60
. . | 04 . . . . g.9771
ACTGTGGAAACTGAGGACAACAGG | ACCCTGGTGGTCAAACCAGAGGATGTGTACGCCATG c.240
T V E T E D N R | T L V V K P E D V Y A M p.80
. . . . . . g.9831
AACCCCCCCAAGTTCGACAGGATCGAAGACATGGCCATGCTGACGCACCTGAATGAGCCA c.300
N P P K F D R I E D M A M L T H L N E P p.100
. . . . | 05 . g.10642
GCCGTGCTGTACAACCTGAAGGACCGTTACACATCTTGGATGATCTAT | ACCTACTCAGGC c.360
A V L Y N L K D R Y T S W M I Y | T Y S G p.120
. . . . . . g.10702
CTCTTCTGTGTCACTGTCAACCCCTACAAGTGGCTGCCGGTGTACAACCCCGAGGTGGTG c.420
L F C V T V N P Y K W L P V Y N P E V V p.140
. . . . . . g.10762
GAAGGCTACCGAGGCAAAAAGCGCCAGGAGGCCCCACCCCACATCTTCTCCATCTCTGAC c.480
E G Y R G K K R Q E A P P H I F S I S D p.160
. . | 06 . . . | 07 . g.12620
AACGCCTATCAGTTCATGCTGACTG | ATCGTGAAAACCAGTCCATTCTGATCAC | CGGAGAA c.540
N A Y Q F M L T D | R E N Q S I L I T | G E p.180
. . . . . . g.12680
TCCGGGGCAGGAAAGACTGTGAACACCAAACGGGTCATCCAGTACTTTGCAACAATTGCA c.600
S G A G K T V N T K R V I Q Y F A T I A p.200
. . . . | 08 . . g.13667
GCTACTGGGGACCTGGCCAAGAAGAAGGACTCCAAAATGAAG | GGGACTCTGGAAGATCAA c.660
A T G D L A K K K D S K M K | G T L E D Q p.220
. . . . . . g.13727
ATCATCAGTGCCAATCCCCTGCTGGAGGCCTTTGGGAACGCCAAGACTGTGAGGAATGAC c.720
I I S A N P L L E A F G N A K T V R N D p.240
. | 09 . . . . . g.14917
AACTCCTCCCGTTTT | GGCAAGTTCATCCGAATCCATTTTGGAACCACTGGGAAGCTGGCC c.780
N S S R F | G K F I R I H F G T T G K L A p.260
. | 10 . . . . g.15059
TCTGCAGATATTGAAACTT | ATCTTCTGGAAAAATCAAGAGTCACTTTCCAGCTGAAGGCT c.840
S A D I E T Y | L L E K S R V T F Q L K A p.280
. . . . . | 11 g.16268
GAAAGAAGCTACCACATCTTCTACCAGATTCTTTCTAACAAGAAGCCTGAGCTCATAG | AG c.900
E R S Y H I F Y Q I L S N K K P E L I E | p.300
. . . . . . g.16328
CTGCTGCTTATTACGACCAACCCTTACGACTACCCGTTCATTAGCCAGGGGGAGATCCTG c.960
L L L I T T N P Y D Y P F I S Q G E I L p.320
. . . . | 12 . . g.16471
GTGGCCAGCATAGATGATGCAGAGGAGCTGCTGGCTACAGAC | AGCGCCATTGACATCCTG c.1020
V A S I D D A E E L L A T D | S A I D I L p.340
. . . . . . g.16531
GGCTTCACCCCAGAAGAGAAATCTGGGCTCTACAAGCTGACGGGAGCCGTGATGCACTAC c.1080
G F T P E E K S G L Y K L T G A V M H Y p.360
. . . . . . g.16591
GGGAACATGAAGTTCAAGCAGAAGCAGCGAGAGGAGCAGGCCGAGCCGGATGGCACAGAA c.1140
G N M K F K Q K Q R E E Q A E P D G T E p.380
| 13 . . . . . . g.17655
G | TGGCTGACAAAACAGCCTATCTGATGGGCCTGAACTCTTCGGACCTCCTAAAAGCTTTG c.1200
V | A D K T A Y L M G L N S S D L L K A L p.400
. . . . . . g.17715
TGCTTTCCTAGAGTGAAAGTTGGGAATGAGTACGTTACCAAAGGTCAAACTGTGGATCAG c.1260
C F P R V K V G N E Y V T K G Q T V D Q p.420
| 14 . . . . . . g.17858
| GTTCACCATGCTGTGAATGCTCTTTCAAAATCAGTTTATGAAAAGTTGTTCTTGTGGATG c.1320
| V H H A V N A L S K S V Y E K L F L W M p.440
. . . . . . g.17918
GTCACTCGCATTAACCAGCAACTGGATACGAAGCTTCCAAGACAACACTTCATTGGTGTT c.1380
V T R I N Q Q L D T K L P R Q H F I G V p.460
. . . | 15 . . . g.19332
TTGGACATTGCAGGCTTTGAAATCTTTGAG | TATAACAGCCTGGAGCAGCTGTGCATCAAC c.1440
L D I A G F E I F E | Y N S L E Q L C I N p.480
. . . . . . g.19392
TTCACCAATGAGAAACTGCAACAGTTTTTCAACCACCACATGTTCGTGCTGGAGCAGGAG c.1500
F T N E K L Q Q F F N H H M F V L E Q E p.500
. . . . . . g.19452
GAGTACAAGAAGGAAGGCATCGAGTGGACGTTCATTGACTTCGGGATGGACCTGGCTGCC c.1560
E Y K K E G I E W T F I D F G M D L A A p.520
. . | 16 . . . . g.19614
TGCATCGAGCTCATCGAGAAG | CCTATGGGCATCTTCTCCATCCTGGAAGAGGAGTGCATG c.1620
C I E L I E K | P M G I F S I L E E E C M p.540
. . . . . . g.19674
TTCCCCAAGGCAACAGACACCTCCTTCAAGAACAAGCTGTATGACCAGCATCTTGGAAAG c.1680
F P K A T D T S F K N K L Y D Q H L G K p.560
. . . . . . g.19734
TCCAACAACTTCCAGAAGCCCAAGGTGGTCAAAGGCAGGGCCGAGGCTCACTTCTCACTG c.1740
S N N F Q K P K V V K G R A E A H F S L p.580
. . . . . . g.19794
ATCCACTATGCGGGCACCGTGGACTACAGTGTCTCAGGTTGGCTGGAGAAGAACAAGGAC c.1800
I H Y A G T V D Y S V S G W L E K N K D p.600
. . . . . . g.19854
CCTCTGAACGAGACTGTGGTTGGGCTGTACCAGAAGTCTTCCAACAGGCTCCTGGCACAC c.1860
P L N E T V V G L Y Q K S S N R L L A H p.620
. . | 17 . . . g.20020
CTCTATGCCACGTTTGCCACGGCGGATG | CTGACAGTGGAAAGAAGAAAGTTGCCAAGAAG c.1920
L Y A T F A T A D A | D S G K K K V A K K p.640
. . . | 18 . . g.20947
AAGGGTTCTTCCTTCCAAACTGTCTCTGCCCTTTTCAGG | GAAAACCTGAACAAGCTGATG c.1980
K G S S F Q T V S A L F R | E N L N K L M p.660
. . . . . . g.21007
TCAAATTTAAGAACTACTCACCCTCATTTTGTGCGTTGTATAATTCCCAATGAAACCAAA c.2040
S N L R T T H P H F V R C I I P N E T K p.680
| 19. . . . . . g.21149
ACTCCAG | GGGCTATGGAACACAGCCTTGTTCTGCACCAGCTGCGGTGTAACGGTGTCCTG c.2100
T P G | A M E H S L V L H Q L R C N G V L p.700
. . . . . . g.21209
GAGGGCATCCGCATCTGCAGGAAAGGGTTCCCAAACAGGATTCTCTATGGCGATTTTAAA c.2160
E G I R I C R K G F P N R I L Y G D F K p.720
| 20 . . . . . . g.21667
CAAAG | ATACCGAGTGCTGAATGCCAGTGCAATCCCTGAGGGACAATTCATTGACAGCAAG c.2220
Q R | Y R V L N A S A I P E G Q F I D S K p.740
. . . . . . g.21727
AAAGCCTGTGAAAAGCTTCTGGCATCCATTGATATTGACCACACTCAGTACAAATTTGGA c.2280
K A C E K L L A S I D I D H T Q Y K F G p.760
| 21 . . . . . g.21880
CATACCAAG | GTGTTCTTCAAGGCTGGCTTGCTGGGAACCCTGGAAGAGATGCGGGATGAC c.2340
H T K | V F F K A G L L G T L E E M R D D p.780
. . . . . . g.21940
CGCCTGGCCAAACTAATCACCCGGACACAAGCTGTGTGCAGAGGGTTCCTCATGCGTGTG c.2400
R L A K L I T R T Q A V C R G F L M R V p.800
. . | 22 . . . . g.22081
GAATTCCAGAAGATGGTGCAGAGGAG | GGAGTCCATCTTCTGCATCCAGTACAACATTCGC c.2460
E F Q K M V Q R R | E S I F C I Q Y N I R p.820
. . . . . . g.22141
TCATTCATGAACGTCAAGCACTGGCCCTGGATGAAACTCTTCTTCAAGATCAAGCCCCTC c.2520
S F M N V K H W P W M K L F F K I K P L p.840
. . . . . . g.22201
CTCAAGAGTGCAGAGACTGAGAAAGAGATGGCCACCATGAAGGAAGAATTCCAGAAAACC c.2580
L K S A E T E K E M A T M K E E F Q K T p.860
. . . . . . g.22261
AAAGATGAACTCGCCAAGTCGGAGGCAAAAAGGAAGGAGCTAGAGGAAAAACTGGTGACT c.2640
K D E L A K S E A K R K E L E E K L V T p.880
. . . . | 23 . . g.22514
CTGGTCCAAGAGAAGAATGACCTGCAGCTCCAAGTACAAGCT | GAAAGCGAAAATTTGTTG c.2700
L V Q E K N D L Q L Q V Q A | E S E N L L p.900
. . . . . . g.22574
GATGCTGAGGAAAGATGCGATCAGCTGATCAAAGCCAAATTCCAGCTCGAGGCCAAGATC c.2760
D A E E R C D Q L I K A K F Q L E A K I p.920
. . . . . . g.22634
AAGGAGGTGACAGAGAGAGCTGAAGATGAGGAGGAGATCAATGCTGAGCTGACGGCCAAG c.2820
K E V T E R A E D E E E I N A E L T A K p.940
. . . . . . g.22694
AAGAGGAAACTGGAGGATGAATGCTCAGAGCTCAAGAAAGACATTGATGACCTTGAGTTG c.2880
K R K L E D E C S E L K K D I D D L E L p.960
. . . . | 24 . . g.22839
ACCCTGGCCAAGGTTGAGAAGGAGAAGCATGCCACAGAGAACAAG | GTTAAAAACCTTACT c.2940
T L A K V E K E K H A T E N K | V K N L T p.980
. . . . . . g.22899
GAGGAACTCTCTGGGTTAGATGAAACAATTGCAAAGTTAACCAGAGAGAAGAAGGCCCTC c.3000
E E L S G L D E T I A K L T R E K K A L p.1000
. . . . . . g.22959
CAAGAGGCGCACCAGCAGGCCTTGGATGACCTCCAAGCTGAAGAAGACAAAGTCAATTCT c.3060
Q E A H Q Q A L D D L Q A E E D K V N S p.1020
. . . . | 25 . . g.23127
TTGAACAAAACCAAGAGCAAACTGGAACAGCAAGTGGAAGAC | CTGGAAAGCTCCCTAGAA c.3120
L N K T K S K L E Q Q V E D | L E S S L E p.1040
. . . . . . g.23187
CAAGAAAAGAAGCTCCGAGTAGACCTGGAAAGGAACAAAAGGAAATTGGAAGGAGACTTG c.3180
Q E K K L R V D L E R N K R K L E G D L p.1060
. . . . . . g.23247
AAGCTTGCTCAAGAGTCCATATTAGATCTGGAGAATGACAAGCAACAGCTGGACGAAAGG c.3240
K L A Q E S I L D L E N D K Q Q L D E R p.1080
| 26 . . . . . g.23387
CTCAAGAA | GAAAGATTTTGAATATTGTCAACTTCAAAGCAAAGTGGAAGATGAGCAGACA c.3300
L K K | K D F E Y C Q L Q S K V E D E Q T p.1100
. . . | 27 . . g.23887
CTGGGCCTCCAGTTTCAGAAGAAAATCAAAGAGTTGCAG | GCTCGAATTGAGGAGCTGGAA c.3360
L G L Q F Q K K I K E L Q | A R I E E L E p.1120
. . . . . . g.23947
GAGGAGATAGAGGCGGAGAGGGCCACCCGCGCGAAGACAGAGAAACAGCGCAGCGACTAT c.3420
E E I E A E R A T R A K T E K Q R S D Y p.1140
. . . . . . g.24007
GCCCGGGAGCTGGAGGAGCTGAGCGAGCGGCTGGAGGAGGCGGGAGGCGTCACCTCCACG c.3480
A R E L E E L S E R L E E A G G V T S T p.1160
. . . . . . g.24067
CAGATAGAGCTCAACAAGAAGCGGGAGGCGGAGTTCCTGAAGCTGCGCAGGGACCTGGAG c.3540
Q I E L N K K R E A E F L K L R R D L E p.1180
. . . . . . g.24127
GAGGCCACACTGCAGCACGAAGCCATGGTGGCCGCGCTGAGGAAGAAGCATGCGGATAGT c.3600
E A T L Q H E A M V A A L R K K H A D S p.1200
. . . . . . g.24187
GTGGCCGAGCTTGGGGAGCAGATTGACAACCTGCAGCGGGTCAAGCAGAAGCTGGAGAAG c.3660
V A E L G E Q I D N L Q R V K Q K L E K p.1220
. . . . . . g.24247
GAGAAGAGCGAGTTCAAGCTGGAGATCGATGACCTCTCCAGCAGCATGGAGAGTGTGTCG c.3720
E K S E F K L E I D D L S S S M E S V S p.1240
| 28 . . . . . g.24414
AAATCTAAG | GCAAATCTGGAAAAAATCTGCCGAACCCTGGAGGATCAGTTAAGTGAGGCC c.3780
K S K | A N L E K I C R T L E D Q L S E A p.1260
. . . . . . g.24474
AGGGGCAAGAATGAGGAAATTCAGAGGAGCCTGAGCGAGCTGACCACACAGAAGTCTCGT c.3840
R G K N E E I Q R S L S E L T T Q K S R p.1280
. | 29 . . . . . g.26489
TTGCAGACCGAGGCTG | GTGAGCTGAGTCGTCAGCTGGAAGAAAAAGAAAGCATAGTATCC c.3900
L Q T E A G | E L S R Q L E E K E S I V S p.1300
. . . . . . g.26549
CAACTTTCCAGGAGCAAGCAAGCCTTTACCCAGCAAACAGAAGAGCTCAAGAGGCAGCTG c.3960
Q L S R S K Q A F T Q Q T E E L K R Q L p.1320
. | 30 . . . . . g.26780
GAGGAAGAGAACAAG | GCCAAGAACGCCCTGGCGCACGCCCTGCAGTCCTCCCGCCACGAC c.4020
E E E N K | A K N A L A H A L Q S S R H D p.1340
. . . . . . g.26840
TGTGACCTGCTGCGGGAACAGTATGAGGAGGAGCAGGAAGGCAAAGCTGAGCTGCAGAGG c.4080
C D L L R E Q Y E E E Q E G K A E L Q R p.1360
. . . . . . g.26900
GCGCTGTCCAAGGCCAATAGTGAGGTTGCCCAGTGGAGAACCAAATACGAGACGGACGCC c.4140
A L S K A N S E V A Q W R T K Y E T D A p.1380
. . . | 31 . . . g.27303
ATCCAGCGCACAGAAGAGCTGGAGGAGGCCAA | GAAAAAACTTGCTCAGCGCCTTCAAGAT c.4200
I Q R T E E L E E A K | K K L A Q R L Q D p.1400
. . . . . . g.27363
TCCGAGGAACAGGTTGAGGCAGTGAATGCTAAATGTGCTTCACTGGAGAAGACCAAGCAG c.4260
S E E Q V E A V N A K C A S L E K T K Q p.1420
. . . . . . g.27423
AGGCTGCAAGGAGAGGTGGAGGATCTGATGGTTGATGTTGAAAGAGCCAATTCCTTGGCC c.4320
R L Q G E V E D L M V D V E R A N S L A p.1440
. . . | 32 . . . g.28140
GCCGCTCTGGACAAGAAGCAGAGGAACTTTGACAAG | GTGTTGGCAGAGTGGAAGACAAAG c.4380
A A L D K K Q R N F D K | V L A E W K T K p.1460
. . . . . . g.28200
TGTGAGGAGAGCCAAGCAGAGCTGGAGGCATCCCTGAAGGAGTCCCGCTCCTTGAGCACT c.4440
C E E S Q A E L E A S L K E S R S L S T p.1480
. . . . . . g.28260
GAGCTCTTCAAACTGAAAAATGCCTACGAGGAAGCCTTAGATCAACTTGAAACTGTGAAA c.4500
E L F K L K N A Y E E A L D Q L E T V K p.1500
. . | 33 . . . . g.28621
CGGGAAAATAAGAACTTAGAGC | AGGAGATAGCAGATCTCACAGAACAAATTGCTGAAAAT c.4560
R E N K N L E Q | E I A D L T E Q I A E N p.1520
. . . . . . g.28681
GGCAAAACCATCCATGAACTGGAGAAATCAAGAAAGCAGATTGAGCTGGAAAAGGCTGAT c.4620
G K T I H E L E K S R K Q I E L E K A D p.1540
. . | 34. . . . g.29547
ATCCAGCTGGCTCTCGAGGAAGCAGAG | GCTGCTCTTGAGCATGAAGAAGCCAAGATCCTC c.4680
I Q L A L E E A E | A A L E H E E A K I L p.1560
. . . . . . g.29607
CGAATCCAGCTTGAATTGACACAAGTGAAATCAGAAATTGATAGAAAGATCGCCGAGAAG c.4740
R I Q L E L T Q V K S E I D R K I A E K p.1580
. . . . . . g.29667
GATGAAGAGATCGAGCAGCTGAAGAGGAACTACCAGAGAACAGTGGAAACCATGCAGAGC c.4800
D E E I E Q L K R N Y Q R T V E T M Q S p.1600
. . . . . . g.29727
GCCCTGGACGCCGAGGTGCGGAGCAGGAATGAAGCCATCCGGCTCAAGAAGAAGATGGAG c.4860
A L D A E V R S R N E A I R L K K K M E p.1620
. . . . . . g.29787
GGGGACCTGAATGAAATCGAGATCCAGCTGAGCCACGCCAACCGCCAGGCGGCGGAGACC c.4920
G D L N E I E I Q L S H A N R Q A A E T p.1640
. . . | 35 . . . g.30306
CTCAAACACCTCAGGAGTGTCCAGGGACAGCTGAAG | GATACGCAGCTCCACCTGGATGAT c.4980
L K H L R S V Q G Q L K | D T Q L H L D D p.1660
. . . . . . g.30366
GCCCTCCGGGGCCAGGAGGACCTGAAGGAGCAGCTGGCGATTGTGGAGCGCAGAGCCAAC c.5040
A L R G Q E D L K E Q L A I V E R R A N p.1680
. . . . . . g.30426
CTGCTGCAGGCCGAGGTGGAGGAGCTGCGGGCTACTCTGGAGCAGACGGAGAGGGCCCGG c.5100
L L Q A E V E E L R A T L E Q T E R A R p.1700
. . . . . . g.30486
AAACTGGCGGAACAGGAGCTCCTGGACTCCAACGAGAGGGTGCAGCTGCTGCATACCCAG c.5160
K L A E Q E L L D S N E R V Q L L H T Q p.1720
| 36 . . . . . . g.30622
| AACACCAGCCTCATCCACACCAAGAAGAAGCTGGAGACAGACCTCATGCAGCTCCAGAGT c.5220
| N T S L I H T K K K L E T D L M Q L Q S p.1740
. . . . . . g.30682
GAGGTAGAAGATGCCAGCAGGGATGCAAGGAACGCTGAGGAGAAGGCCAAGAAGGCCATC c.5280
E V E D A S R D A R N A E E K A K K A I p.1760
| 37 . . . . . . g.31894
ACGGAC | GCTGCCATGATGGCGGAGGAGCTGAAGAAGGAGCAGGACACCAGCGCCCACCTT c.5340
T D | A A M M A E E L K K E Q D T S A H L p.1780
. . . . . . g.31954
GAGCGGATGAAGAAGAACCTGGAACAGACGGTGAAGGACCTGCAGCATCGTCTAGATGAG c.5400
E R M K K N L E Q T V K D L Q H R L D E p.1800
. . . . . | 38. g.32105
GCCGAGCAGCTGGCGCTGAAGGGCGGGAAGAAGCAGATCCAGAAACTGGAGACCAGG | ATC c.5460
A E Q L A L K G G K K Q I Q K L E T R | I p.1820
. . . . . . g.32165
CGAGAGCTGGAGTTTGAACTTGAGGGAGAGCAGAAGAAGAACACAGAGTCTGTTAAGGGC c.5520
R E L E F E L E G E Q K K N T E S V K G p.1840
. . . . | 39 . . g.32379
CTGAGGAAGTATGAGCGGAGGGTCAAGGAGCTGACGTACCAG | AGTGAAGAGGACAGGAAG c.5580
L R K Y E R R V K E L T Y Q | S E E D R K p.1860
. . . . . . g.32439
AATGTGCTGAGATTGCAGGATCTGGTGGATAAACTGCAAGTGAAAGTCAAGTCCTACAAG c.5640
N V L R L Q D L V D K L Q V K V K S Y K p.1880
. | 40 . . . . g.32606
AGGCAGGCGGAGGAGGCT | GATGAACAAGCCAATGCTCATCTCACCAAATTCCGAAAGGCT c.5700
R Q A E E A | D E Q A N A H L T K F R K A p.1900
. . . . . . g.32666
CAGCATGAGCTGGAGGAGGCCGAGGAACGTGCGGATATCGCAGAATCTCAAGTCAACAAG c.5760
Q H E L E E A E E R A D I A E S Q V N K p.1920
. . . | 41 . . . g.33643
CTCCGCGCTAAGACTCGAGACTTCACCTCCAGCAGG | ATGGTGGTCCACGAGAGTGAAGAG c.5820
L R A K T R D F T S S R | M V V H E S E E p.1940
g.33646
TGA c.5823
X p.1940
. . . . . . g.33706
gccagcccttctggagcaggacagaagatatgcaaaatgtatattttcttgattcctgac c.*60
. . . . . . g.33766
cattgatacttaatgtccatgtgactctttttcacatgcaataaactttgctttgtttca c.*120
g.33773
atctggg c.*127
(downstream sequence)
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