(used for variant description)
(last modified April 30, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_017433.4 in the MYO3A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011635.1, covering MYO3A transcript NM_017433.4.
(upstream sequence)
. . . . . . g.5060
ggatggcgcggatggcgcggcctccacctgcgggcagtggagagagcggcgagaggaaga c.-301
. . . . . . g.5120
atattccccgcgagccgggataaggggccccttcggctcggttgacccaggtcagatcct c.-241
. . . . . . g.5180
cccgccgaccttcggcccgccctctacaggcggcccagttcttcccctgctcggctgccc c.-181
. . . . . . g.5240
ctgcccgcccctcgagggagcgcccgtagccagcgcccccgtaaagaaataaggaggcgc c.-121
. . | 02 . . . . g.6715
ccggcttcccgcccag | gcccagggccccagtgcagcctggacacagtattcaaagttttg c.-61
. . . . . | 03 . g.23038
gcgtctgagcattgttatgcgttattttcaagctttgctaacg | gtttttaaacctttgag c.-1
. . . . . . g.23098
ATGTTTCCATTAATTGGAAAAACAATCATCTTTGATAACTTTCCTGATCCTTCTGATACA c.60
M F P L I G K T I I F D N F P D P S D T p.20
. . . . . . g.23158
TGGGAAATCACTGAGACAATTGGCAAAGGAACTTATGGGAAAGTTTTTAAAGTATTGAAT c.120
W E I T E T I G K G T Y G K V F K V L N p.40
. . . . | 04 . g.25813
AAGAAAAATGGCCAAAAAGCAGCAGTCAAAATTCTTGATCCAATTCAC | GATATTGACGAA c.180
K K N G Q K A A V K I L D P I H | D I D E p.60
. . . . . . g.25873
GAGATTGAAGCAGAATATAACATCTTAAAAGCACTTTCTGACCACCCTAATGTGGTCAGA c.240
E I E A E Y N I L K A L S D H P N V V R p.80
. . . . . . g.25933
TTCTATGGGATATACTTTAAGAAGGATAAAGTAAATGGAGACAAGCTGTGGTTGGTTCTT c.300
F Y G I Y F K K D K V N G D K L W L V L p.100
| 05 . . . . . . g.67474
GAG | CTCTGCAGTGGAGGATCAGTGACTGACCTTGTGAAAGGATTTCTGAAGAGGGGTGAA c.360
E | L C S G G S V T D L V K G F L K R G E p.120
. . . . | 06 . g.68098
AGAATGAGTGAGCCTCTAATTGCCTATATTTTACATGAAGCACTAATG | GGACTTCAACAT c.420
R M S E P L I A Y I L H E A L M | G L Q H p.140
. . . . . . g.68158
TTGCATAACAACAAAACTATCCACAGAGATGTGAAAGGCAATAACATTCTATTGACCACG c.480
L H N N K T I H R D V K G N N I L L T T p.160
. . | 07 . . . g.87779
GAAGGTGGAGTGAAACTAGTAGATTTTG | GTGTGTCTGCACAGCTCACCAGTACCCGGCAC c.540
E G G V K L V D F G | V S A Q L T S T R H p.180
. . . . | 08 . . g.92445
CGTCGGAACACATCCGTAGGAACACCGTTTTGGATGGCTCCTGAG | GTGATTGCATGTGAA c.600
R R N T S V G T P F W M A P E | V I A C E p.200
. . . . . . g.92505
CAGCAATTGGATACCACTTATGACGCCAGATGTGACACTTGGTCCCTGGGTATCACGGCC c.660
Q Q L D T T Y D A R C D T W S L G I T A p.220
. . . . . . g.92565
ATTGAGCTGGGTGATGGAGATCCTCCACTAGCTGACCTTCATCCCATGAGAGCACTCTTC c.720
I E L G D G D P P L A D L H P M R A L F p.240
. | 09 . . . . . g.94998
AAAATACCAAG | GAATCCACCCCCAAAACTAAGGCAGCCTGAGCTATGGTCAGCAGAATTC c.780
K I P R | N P P P K L R Q P E L W S A E F p.260
. | 10. . . . . g.97347
AATGACTTCATAAGCAA | GTGCTTGACTAAAGATTATGAAAAGCGTCCAACAGTGTCAGAA c.840
N D F I S K | C L T K D Y E K R P T V S E p.280
. . . . . . g.97407
CTTTTACAGCATAAATTCATTACTCAAATTGAGGGCAAAGATGTGATGCTACAAAAACAA c.900
L L Q H K F I T Q I E G K D V M L Q K Q p.300
. . . . . | 11 . g.137909
CTAACGGAATTCATTGGCATCCATCAATGCATGGGAGGCACAGAAAAGGCCAG | ACGTGAA c.960
L T E F I G I H Q C M G G T E K A R | R E p.320
. . . . . . g.137969
CGTATTCACACGAAGAAAGGGAACTTCAACCGACCTCTAATATCCAATCTGAAGGATGTA c.1020
R I H T K K G N F N R P L I S N L K D V p.340
. . . | 12 . . . g.139722
GATGATTTAGCAACCCTAGAAATTTTGGATGAG | AATACAGTCTCAGAGCAACTTGAGAAG c.1080
D D L A T L E I L D E | N T V S E Q L E K p.360
. . . . . . g.139782
TGTTATTCCAGAGATCAGATCTACGTCTATGTGGGAGACATACTCATTGCTCTTAACCCT c.1140
C Y S R D Q I Y V Y V G D I L I A L N P p.380
. . . | 13 . . . g.141068
TTTCAGAGTCTGGGTCTTTACTCCACAAAG | CATTCCAAACTATATATTGGATCAAAGAGA c.1200
F Q S L G L Y S T K | H S K L Y I G S K R p.400
. . . . . . g.141128
ACTGCCAGTCCTCCTCACATTTTTGCAATGGCTGACTTAGGATATCAATCTATGATAACA c.1260
T A S P P H I F A M A D L G Y Q S M I T p.420
. | 14 . . . . . g.141290
TATAATTCAGATCAG | TGCATTGTTATTTCTGGAGAAAGTGGTGCTGGAAAGACTGAAAAT c.1320
Y N S D Q | C I V I S G E S G A G K T E N p.440
. . . | 15 . . g.159151
GCTCATCTTTTAGTTCAGCAGCTGACAGTGCTTGGAAAG | GCTAATAACAGAACCTTGCAA c.1380
A H L L V Q Q L T V L G K | A N N R T L Q p.460
. . . . . . g.159211
GAGAAGATTTTACAAGTGAACAATTTGGTAGAAGCCTTTGGCAATGCCTGCACTATTATA c.1440
E K I L Q V N N L V E A F G N A C T I I p.480
. . . . . . g.159271
AATGACAATTCTAGCAGATTTGGAAAATACTTAGAAATGAAATTCACCTCTTCTGGAGCG c.1500
N D N S S R F G K Y L E M K F T S S G A p.500
. . . . . . g.159331
GTAGTGGGAGCACAGATTTCTGAATATCTCCTGGAAAAATCCCGAGTTATCCACCAAGCT c.1560
V V G A Q I S E Y L L E K S R V I H Q A p.520
| 16 . . . . . . g.167366
AT | TGGAGAAAAAAATTTTCATATTTTTTACTACATTTATGCTGGTTTGGCTGAAAAGAAG c.1620
I | G E K N F H I F Y Y I Y A G L A E K K p.540
. . . . | 17 . . g.167514
AAACTAGCCCATTACAAACTGCCTGAAAATAAGCCTCCCAG | GTACCTACAAAATGACCAC c.1680
K L A H Y K L P E N K P P R | Y L Q N D H p.560
. . . . . . g.167574
CTCAGAACAGTACAAGACATCATGAATAATAGTTTCTATAAATCCCAGTATGAATTAATT c.1740
L R T V Q D I M N N S F Y K S Q Y E L I p.580
. . . | 18 . . . g.191627
GAGCAATGTTTCAAAGTCATAGGTTTTACAATGGAG | CAACTTGGTAGTATATACAGCATA c.1800
E Q C F K V I G F T M E | Q L G S I Y S I p.600
. . . . . . g.191687
CTCGCTGCAATCTTGAATGTTGGCAACATTGAATTTTCTTCTGTGGCAACTGAACACCAG c.1860
L A A I L N V G N I E F S S V A T E H Q p.620
. . . . | 19 . . g.196342
ATTGACAAGAGCCACATTTCTAATCATACAGCCCTGGAGAACT | GTGCTTCTTTGCTTTGC c.1920
I D K S H I S N H T A L E N C | A S L L C p.640
. . . . . . g.196402
ATTCGGGCAGATGAGCTACAAGAAGCTCTCACCTCCCACTGTGTGGTCACTAGAGGAGAA c.1980
I R A D E L Q E A L T S H C V V T R G E p.660
. . . . . . g.196462
ACAATTATACGACCCAATACTGTAGAAAAAGCTACCGATGTCAGGGATGCCATGGCTAAA c.2040
T I I R P N T V E K A T D V R D A M A K p.680
. . . . . . g.196522
ACTTTATATGGACGTCTCTTTAGTTGGATAGTCAATTGCATTAACAGTTTGTTGAAGCAT c.2100
T L Y G R L F S W I V N C I N S L L K H p.700
. | 20 . . . . . g.199364
GACTCATCACCAAG | TGGGAATGGTGATGAGCTGAGCATTGGCATTCTTGATATATTTGGC c.2160
D S S P S | G N G D E L S I G I L D I F G p.720
. . . . . . g.199424
TTTGAAAATTTCAAAAAAAATTCCTTCGAGCAGCTGTGCATTAACATTGCAAATGAACAA c.2220
F E N F K K N S F E Q L C I N I A N E Q p.740
. . . . | 21 . . g.214393
ATTCAGTATTATTATAATCAACATGTGTTTGCATGGGAACAG | AATGAATACCTAAATGAA c.2280
I Q Y Y Y N Q H V F A W E Q | N E Y L N E p.760
. . . . . . g.214453
GATGTGGATGCTAGAGTTATTGAATATGAGGATAACTGGCCCCTCTTAGATATGTTTCTG c.2340
D V D A R V I E Y E D N W P L L D M F L p.780
. . . . . . g.214513
CAAAAGCCAATGGGTTTACTTTCCCTACTTGATGAAGAAAGTAGATTTCCCAAGGCCACT c.2400
Q K P M G L L S L L D E E S R F P K A T p.800
. | 22 . . . . . g.216417
GACCAGACTCTTGTAG | AAAAATTTGAAGGTAACCTGAAATCACAATACTTCTGGAGACCC c.2460
D Q T L V E | K F E G N L K S Q Y F W R P p.820
. . . . | 23 . . g.218372
AAAAGAATGGAACTTAGTTTTGGAATTCACCATTATGCAGGAAAG | GTCCTCTATAATGCA c.2520
K R M E L S F G I H H Y A G K | V L Y N A p.840
. . . . . . g.218432
AGTGGATTCTTAGCCAAAAACAGAGACACTCTTCCTACTGACATTGTGCTACTTTTGAGG c.2580
S G F L A K N R D T L P T D I V L L L R p.860
. . . . . | 24 . g.224782
TCATCCGACAACAGTGTAATTAGGCAACTAGTCAACCACCCTCTGACCAAAACAG | GTAAT c.2640
S S D N S V I R Q L V N H P L T K T G | N p.880
. . . . . . g.224842
CTGCCACATTCTAAAACTAAAAATGTTATAAACTATCAAATGAGGACTTCAGAAAAATTA c.2700
L P H S K T K N V I N Y Q M R T S E K L p.900
. | 25 . . . . . g.225718
ATCAACCTGGCAAAG | GGCGACACTGGAGAAGCCACACGTCATGCCAGAGAGACAACCAAC c.2760
I N L A K | G D T G E A T R H A R E T T N p.920
. . . | 26 . . . g.228264
ATGAAAACACAAACGGTTGCATCATATTTTAGA | TATTCCCTGATGGATTTGTTGTCTAAA c.2820
M K T Q T V A S Y F R | Y S L M D L L S K p.940
. . . . . . g.228324
ATGGTGGTGGGCCAACCTCATTTTGTCCGTTGCATCAAACCAAATAGTGAGCGTCAGGCA c.2880
M V V G Q P H F V R C I K P N S E R Q A p.960
. . . . . . g.228384
AGAAAATATGACAAAGAGAAAGTTCTGCTACAGCTTCGGTACACAGGAATTCTGGAAACA c.2940
R K Y D K E K V L L Q L R Y T G I L E T p.980
. . . . . | 27 g.236995
GCAAGAATTCGAAGACTAGGATTCTCCCATCGGATACTTTTTGCTAACTTTATAAAGCG | G c.3000
A R I R R L G F S H R I L F A N F I K R | p.1000
. . . . . . g.237055
TACTACCTTCTCTGCTACAAGTCGAGCGAGGAGCCCCGCATGAGCCCTGACACCTGTGCC c.3060
Y Y L L C Y K S S E E P R M S P D T C A p.1020
. . . . . | 28 . g.239648
ACCATTTTGGAAAAAGCTGGTCTCGATAACTGGGCTCTTGGAAAAACAAAA | GTGTTCCTT c.3120
T I L E K A G L D N W A L G K T K | V F L p.1040
. . . . . . g.239708
AAGTATTATCACGTGGAGCAGTTAAATCTAATGCGAAAGGAAGCTATTGACAAGCTTATT c.3180
K Y Y H V E Q L N L M R K E A I D K L I p.1060
. . . . . . g.239768
TTGATTCAAGCTTGTGTCAGAGCATTCTTGTGTTCAAGAAGATACCAAAAAATACAGGAG c.3240
L I Q A C V R A F L C S R R Y Q K I Q E p.1080
. . . | 29 . . . g.241369
AAAAGGAAAGAAAGCGCTATAATAATACAGTCAG | CTGCAAGAGGACACCTTGTCAGGAAA c.3300
K R K E S A I I I Q S A | A R G H L V R K p.1100
. . . . . . g.241429
CAAAGAAAAGAAATTGTTGACATGAAAAACACAGCAGTAACAACCATTCAAACTTCTGAT c.3360
Q R K E I V D M K N T A V T T I Q T S D p.1120
. . . | 30 . . g.244612
CAGGAATTCGACTACAAGAAAAACTTTGAAAATACAAG | GGAATCTTTCGTGAAGAAACAA c.3420
Q E F D Y K K N F E N T R | E S F V K K Q p.1140
. . . . . . g.244672
GCAGAAAATGCAATCTCTGCTAATGAAAGATTCATTTCAGCTCCAAATAATAAAGGAAGT c.3480
A E N A I S A N E R F I S A P N N K G S p.1160
. . . . . . g.244732
GTATCTGTAGTGAAGACTTCCACTTTCAAACCTGAAGAGGAAACCACCAATGCTGTGGAG c.3540
V S V V K T S T F K P E E E T T N A V E p.1180
. . . . . . g.244792
AGTAACAACAGAGTGTATCAGACTCCAAAAAAAATGAATAATGTGTATGAGGAAGAGGTT c.3600
S N N R V Y Q T P K K M N N V Y E E E V p.1200
. . . . . . g.244852
AAGCAAGAATTCTACCTTGTAGGGCCAGAAGTAAGCCCCAAACAGAAGTCTGTCAAAGAC c.3660
K Q E F Y L V G P E V S P K Q K S V K D p.1220
. . . . . . g.244912
CTGGAAGAGAACAGCAATCTAAGGAAAGTGGAGAAAGAGGAAGCTATGATCCAGAGTTAC c.3720
L E E N S N L R K V E K E E A M I Q S Y p.1240
. . . . . . g.244972
TATCAGAGGTACACAGAGGAGAGGAATTGTGAAGAGTCAAAAGCAGCATATCTAGAAAGG c.3780
Y Q R Y T E E R N C E E S K A A Y L E R p.1260
. . . . . . g.245032
AAGGCCATATCAGAAAGGCCAAGCTACCCAGTGCCTTGGTTAGCTGAAAATGAGACTTCC c.3840
K A I S E R P S Y P V P W L A E N E T S p.1280
. . . . . . g.245092
TTTAAAAAAACTTTGGAACCTACACTTAGCCAAAGGTCAATTTATCAAAATGCAAACAGC c.3900
F K K T L E P T L S Q R S I Y Q N A N S p.1300
. . . . . . g.245152
ATGGAAAAAGAAAAGAAGACATCTGTAGTTACCCAGCGTGCACCGATATGCAGCCAGGAG c.3960
M E K E K K T S V V T Q R A P I C S Q E p.1320
. . . . . . g.245212
GAAGGCAGAGGCCGTCTGAGGCATGAGACAGTCAAAGAGAGGCAAGTTGAACCAGTGACA c.4020
E G R G R L R H E T V K E R Q V E P V T p.1340
. . . . . . g.245272
CAGGCCCAGGAGGAAGAAGATAAAGCAGCGGTATTCATTCAGAGCAAATACCGGGGTTAC c.4080
Q A Q E E E D K A A V F I Q S K Y R G Y p.1360
. . . . . . g.245332
AAGAGAAGGCAGCAGTTGAGGAAGGACAAGATGTCTTCTTTTAAGCATCAGAGGATTGTC c.4140
K R R Q Q L R K D K M S S F K H Q R I V p.1380
. . . . . . g.245392
ACAACACCAACAGAAGTAGCAAGAAACACTCATAATTTGTATTCCTATCCCACAAAACAT c.4200
T T P T E V A R N T H N L Y S Y P T K H p.1400
. . . . . . g.245452
GAGGAAATCAATAACATCAAGAAGAAGGATAACAAAGACTCGAAAGCAACTTCAGAAAGA c.4260
E E I N N I K K K D N K D S K A T S E R p.1420
. . . | 31 . . . g.247655
GAAGCATGTGGTTTGGCAATTTTTTCAAAACAG | ATATCAAAGTTATCTGAAGAATATTTC c.4320
E A C G L A I F S K Q | I S K L S E E Y F p.1440
. . . . . . g.247715
ATTCTGCAGAAAAAATTGAATGAAATGATTTTGTCACAGCAACTGAAGTCACTTTATCTG c.4380
I L Q K K L N E M I L S Q Q L K S L Y L p.1460
. . . . . | 32 g.264134
GGTGTCTCGCACCATAAGCCAATTAATAGACGAGTTTCTTCTCAGCAGTGCCTCTCAG | GT c.4440
G V S H H K P I N R R V S S Q Q C L S G | p.1480
. . . . . . g.264194
GTCTGTAAAGGAGAGGAGCCAAAAATATTGAGACCCCCAAGACGACCCCGGAAACCCAAA c.4500
V C K G E E P K I L R P P R R P R K P K p.1500
. . . . | 33 . . g.272207
ACATTAAATAACCCTGAAGACTCCACATACTATTATCTACTTCAT | AAGTCAATCCAAGAA c.4560
T L N N P E D S T Y Y Y L L H | K S I Q E p.1520
. . | 34 . . . . g.273925
GAAAAACGAAGACCAAGGAAAGACAG | TCAGGGAAAATTATTAGATTTGGAAGATTTCTAT c.4620
E K R R P R K D S | Q G K L L D L E D F Y p.1540
. . . . . . g.273985
TATAAGGAATTTTTGCCCAGTCGTTCTGGACCAAAGGAACATAGCCCTAGTTTAAGAGAA c.4680
Y K E F L P S R S G P K E H S P S L R E p.1560
. . . . . | 35 . g.282780
CGAAGACCACAGCAAGAACTCCAGAATCAATGTATTAAGGCTAATGAAAG | GTGCTGGGCG c.4740
R R P Q Q E L Q N Q C I K A N E R | C W A p.1580
. . . . . . g.282840
GCGGAGAGCCCCGAGAAGGAGGAGGAGAGAGAGCCAGCAGCCAACCCCTACGACTTCAGG c.4800
A E S P E K E E E R E P A A N P Y D F R p.1600
. . . . . g.282891
AGGCTCCTGCGCAAAACCTCCCAGCGCCGGCGCCTCGTCCAGCAGTCCTAA c.4851
R L L R K T S Q R R R L V Q Q S X p.1616
. . . . . . g.282951
ccgttcaacgaggcagtcaccgccgtcggaaggcgctggagcctgcggggcagcaggggc c.*60
. . . . . . g.283011
caagcaggcactctggggctggcaccagcaggcactgaagctgcggccctgatctccgca c.*120
. . . . . . g.283071
gaggctgcctgctgcgctcggccctcaagtgcccgggccggccttcgtgctccgaaacaa c.*180
. . . . . . g.283131
gagacctgggagccctcgggaaacctcccccgacgctctctctcggaactcccgcaccct c.*240
. . . . . . g.283191
cctttctcaccagcccgccagttgtggcaaccctgtccttgttcccctaatctatcactt c.*300
. . . . . . g.283251
tgttctttttttttgtgactcctgtggactccactgcgcctgggatctcgccaacccctc c.*360
. . . . . . g.283311
tctcatttggggtgactgaattcacagatttttttttttattggaaacggcttttcttgg c.*420
. . . . . . g.283371
ccaacagaacacttgctagcggttgaatcttagagaaaaaagcccgggaggggtggggag c.*480
. . . . . . g.283431
aatttcgaagatgtatttcatctcaagcttgctctttctcttcctttggttattaaggtc c.*540
. . . g.283464
actaaataaaggaagtgccttggaaaacccgtg c.*573
(downstream sequence)
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