(used for mutation description)
(last modified July 23, 2010)
This file was created to facilitate the description of sequence variants in the MYBPC3 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_007667.1, covering MYBPC3 transcript NM_000256.3.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . . g.5055
agtccctctttgggtgacctgtgcctgcttcgtgcctggtgtgacgtctctcagg c.-1
. . | 02 . . . . g.6232
ATGCCTGAGCCGGGGAAGAAGCCAG | TCTCAGCTTTTAGCAAGAAGCCACGGTCAGTGGAA c.60
M P E P G K K P V | S A F S K K P R S V E p.20
. . . . . . g.6292
GTGGCCGCAGGCAGCCCTGCCGTGTTCGAGGCCGAGACAGAGCGGGCAGGAGTGAAGGTG c.120
V A A G S P A V F E A E T E R A G V K V p.40
. . . . . . g.6352
CGCTGGCAGCGCGGAGGCAGTGACATCAGCGCCAGCAACAAGTACGGCCTGGCCACAGAG c.180
R W Q R G G S D I S A S N K Y G L A T E p.60
. . . . . . g.6412
GGCACACGGCATACGCTGACAGTGCGGGAAGTGGGCCCTGCCGACCAGGGATCTTACGCA c.240
G T R H T L T V R E V G P A D Q G S Y A p.80
. . . . . | 03 . g.7095
GTCATTGCTGGCTCCTCCAAGGTCAAGTTCGACCTCAAGGTCATAGAGGCAG | AGAAGGCA c.300
V I A G S S K V K F D L K V I E A E | K A p.100
. . . . . . g.7155
GAGCCCATGCTGGCCCCTGCCCCTGCCCCTGCTGAGGCCACTGGAGCCCCTGGAGAAGCC c.360
E P M L A P A P A P A E A T G A P G E A p.120
. . . . | 04 . . g.7604
CCGGCCCCAGCCGCTGAGCTGGGAGAAAGTGCCCCAAGTCCCAAAG | GGTCAAGCTCAGCA c.420
P A P A A E L G E S A P S P K G | S S S A p.140
. . . . . . g.7664
GCTCTCAATGGTCCTACCCCTGGAGCCCCCGATGACCCCATTGGCCTCTTCGTGATGCGG c.480
A L N G P T P G A P D D P I G L F V M R p.160
. . | 05 . . . . g.7815
CCACAGGATGGCGAGGTGACCGTGG | GTGGCAGCATCACCTTCTCAGCCCGCGTGGCCGGC c.540
P Q D G E V T V G | G S I T F S A R V A G p.180
. . . . . . g.7875
GCCAGCCTCCTGAAGCCGCCTGTGGTCAAGTGGTTCAAGGGCAAATGGGTGGACCTGAGC c.600
A S L L K P P V V K W F K G K W V D L S p.200
. . . . . | 06 . g.9167
AGCAAGGTGGGCCAGCACCTGCAGCTGCACGACAGCTACGACCGCGCCAGCAAG | GTCTAT c.660
S K V G Q H L Q L H D S Y D R A S K | V Y p.220
. . . . . . g.9227
CTGTTCGAGCTGCACATCACCGATGCCCAGCCTGCCTTCACTGGCAGCTACCGCTGTGAG c.720
L F E L H I T D A Q P A F T G S Y R C E p.240
. . . . . | 07 . g.9805
GTGTCCACCAAGGACAAATTTGACTGCTCCAACTTCAATCTCACTGTCCACG | AGGCCATG c.780
V S T K D K F D C S N F N L T V H E | A M p.260
. . . . | 08 . . g.10041
GGCACCGGAGACCTGGACCTCCTATCAGCCTTCCGCCGCAC | GAGCCTGGCTGGAGGTGGT c.840
G T G D L D L L S A F R R T | S L A G G G p.280
. | 09 . . . . . g.10272
CGGCGGATCAG | TGATAGCCATGAGGACACTGGGATTCTGGACTTCAGCTCACTGCTGAAA c.900
R R I S | D S H E D T G I L D F S S L L K p.300
| 10 | 11 . | 12 . . . . g.11366
AAGAG | AGA | CAGTTTCCGGACCCCGAG | GGACTCGAAGCTGGAGGCACCAGCAGAGGAGGAC c.960
K R | D | S F R T P R | D S K L E A P A E E D p.320
. . . . . . g.11426
GTGTGGGAGATCCTACGGCAGGCACCCCCATCTGAGTACGAGCGCATCGCCTTCCAGTAC c.1020
V W E I L R Q A P P S E Y E R I A F Q Y p.340
. . . . . . g.11486
GGCGTCACTGACCTGCGCGGCATGCTAAAGAGGCTCAAGGGCATGAGGCGCGATGAGAAG c.1080
G V T D L R G M L K R L K G M R R D E K p.360
. | 13 . . . . . g.14128
AAGAGCACAG | CCTTTCAGAAGAAGCTGGAGCCGGCCTACCAGGTGAGCAAAGGCCACAAG c.1140
K S T A | F Q K K L E P A Y Q V S K G H K p.380
. . . . . . g.14188
ATCCGGCTGACCGTGGAACTGGCTGACCATGACGCTGAGGTCAAATGGCTCAAGAATGGC c.1200
I R L T V E L A D H D A E V K W L K N G p.400
. . | 14 | 15 . . . . g.14591
CAGGAGATCCAGATGAGCGGCAG | CAA | GTACATCTTTGAGTCCATCGGTGCCAAGCGTACC c.1260
Q E I Q M S G S | K | Y I F E S I G A K R T p.420
. . . . . . g.14651
CTGACCATCAGCCAGTGCTCATTGGCGGACGACGCAGCCTACCAGTGCGTGGTGGGTGGC c.1320
L T I S Q C S L A D D A A Y Q C V V G G p.440
. . . | 16 . . . g.14796
GAGAAGTGTAGCACGGAGCTCTTTGTGAAAG | AGCCCCCTGTGCTCATCACGCGCCCCTTG c.1380
E K C S T E L F V K E | P P V L I T R P L p.460
. . . . . . g.14856
GAGGACCAGCTGGTGATGGTGGGGCAGCGGGTGGAGTTTGAGTGTGAAGTATCGGAGGAG c.1440
E D Q L V M V G Q R V E F E C E V S E E p.480
. | 17. . . . . g.15001
GGGGCGCAAGTCAAATG | GCTGAAGGACGGGGTGGAGCTGACCCGGGAGGAGACCTTCAAA c.1500
G A Q V K W | L K D G V E L T R E E T F K p.500
. . . . . . g.15061
TACCGGTTCAAGAAGGACGGGCAGAGACACCACCTGATCATCAACGAGGCCATGCTGGAG c.1560
Y R F K K D G Q R H H L I I N E A M L E p.520
. . . . . . g.15121
GACGCGGGGCACTATGCACTGTGCACTAGCGGGGGCCAGGCGCTGGCTGAGCTCATTGTG c.1620
D A G H Y A L C T S G G Q A L A E L I V p.540
| 18 . . . . . . g.15602
CAGG | AAAAGAAGCTGGAGGTGTACCAGAGCATCGCAGACCTGATGGTGGGCGCAAAGGAC c.1680
Q E | K K L E V Y Q S I A D L M V G A K D p.560
. . . . . . g.15662
CAGGCGGTGTTCAAATGTGAGGTCTCAGATGAGAATGTTCGGGGTGTGTGGCTGAAGAAT c.1740
Q A V F K C E V S D E N V R G V W L K N p.580
. . . . . | 19 . g.16468
GGGAAGGAGCTGGTGCCCGACAGCCGCATAAAGGTGTCCCACATCGGGCG | GGTCCACAAA c.1800
G K E L V P D S R I K V S H I G R | V H K p.600
. . . . . . g.16528
CTGACCATTGACGACGTCACACCTGCCGACGAGGCTGACTACAGCTTTGTGCCCGAGGGC c.1860
L T I D D V T P A D E A D Y S F V P E G p.620
. . . | 20. . . g.16693
TTCGCCTGCAACCTGTCAGCCAAGCTCCACTTCATGG | AGGTCAAGATTGACTTCGTACCC c.1920
F A C N L S A K L H F M E | V K I D F V P p.640
| 21. . . . . . g.17965
AGGCAGG | AACCTCCCAAGATCCACCTGGACTGCCCAGGCCGCATACCAGACACCATTGTG c.1980
R Q E | P P K I H L D C P G R I P D T I V p.660
. . . . . . g.18025
GTTGTAGCTGGAAATAAGCTACGTCTGGACGTCCCTATCTCTGGGGACCCTGCTCCCACT c.2040
V V A G N K L R L D V P I S G D P A P T p.680
. . | 22. . . . g.18331
GTGATCTGGCAGAAGGCTATCACGCAG | GGGAATAAGGCCCCAGCCAGGCCAGCCCCAGAT c.2100
V I W Q K A I T Q | G N K A P A R P A P D p.700
. . . . | 23 . g.19035
GCCCCAGAGGACACAGGTGACAGCGATGAGTGGGTGTTTGACAAGAAG | CTGCTGTGTGAG c.2160
A P E D T G D S D E W V F D K K | L L C E p.720
. . . . . . g.19095
ACCGAGGGCCGGGTCCGCGTGGAGACCACCAAGGACCGCAGCATCTTCACGGTCGAGGGG c.2220
T E G R V R V E T T K D R S I F T V E G p.740
. . . . . . g.19155
GCAGAGAAGGAAGATGAGGGCGTCTACACGGTCACAGTGAAGAACCCTGTGGGCGAGGAC c.2280
A E K E D E G V Y T V T V K N P V G E D p.760
. . | 24 . . . g.19940
CAGGTCAACCTCACAGTCAAGGTCATCG | ACGTGCCAGACGCACCTGCGGCCCCCAAGATC c.2340
Q V N L T V K V I D | V P D A P A A P K I p.780
. . . . . . g.20000
AGCAACGTGGGAGAGGACTCCTGCACAGTACAGTGGGAGCCGCCTGCCTACGATGGCGGG c.2400
S N V G E D S C T V Q W E P P A Y D G G p.800
. | 25 . . . . . g.20170
CAGCCCATCCTGG | GCTACATCCTGGAGCGCAAGAAGAAGAAGAGCTACCGGTGGATGCGG c.2460
Q P I L G | Y I L E R K K K K S Y R W M R p.820
. . . . . . g.20230
CTGAACTTCGACCTGATTCAGGAGCTGAGTCATGAAGCGCGGCGCATGATCGAGGGCGTG c.2520
L N F D L I Q E L S H E A R R M I E G V p.840
. . . . . . g.20290
GTGTACGAGATGCGCGTCTACGCGGTCAACGCCATCGGCATGTCCAGGCCCAGCCCTGCC c.2580
V Y E M R V Y A V N A I G M S R P S P A p.860
. . | 26 . . . . g.21729
TCCCAGCCCTTCATGCCTATCG | GTCCCCCCAGCGAACCCACCCACCTGGCAGTAGAGGAC c.2640
S Q P F M P I G | P P S E P T H L A V E D p.880
. . . . . . g.21789
GTCTCTGACACCACGGTCTCCCTCAAGTGGCGGCCCCCAGAGCGCGTGGGAGCAGGAGGC c.2700
V S D T T V S L K W R P P E R V G A G G p.900
. . . | 27. . . g.22516
CTGGATGGCTACAGCGTGGAGTACTGCCCAGAGGGCT | GCTCAGAGTGGGTGGCTGCCCTG c.2760
L D G Y S V E Y C P E G C | S E W V A A L p.920
. . . . . . g.22576
CAGGGGCTGACAGAGCACACATCGATACTGGTGAAGGACCTGCCCACGGGGGCCCGGCTG c.2820
Q G L T E H T S I L V K D L P T G A R L p.940
. . . . . . g.22636
CTTTTCCGAGTGCGGGCACACAATATGGCAGGGCCTGGAGCCCCTGTTACCACCACGGAG c.2880
L F R V R A H N M A G P G A P V T T T E p.960
. . | 28 . . . . g.23727
CCGGTGACAGTGCAGGAGATCCTGC | AACGGCCACGGCTTCAGCTGCCCAGGCACCTGCGC c.2940
P V T V Q E I L Q | R P R L Q L P R H L R p.980
. . . . . | 29 . g.23956
CAGACCATTCAGAAGAAGGTCGGGGAGCCTGTGAACCTTCTCATCCCTTTCCAG | GGCAAG c.3000
Q T I Q K K V G E P V N L L I P F Q | G K p.1000
. . . . . . g.24016
CCCCGGCCTCAGGTGACCTGGACCAAAGAGGGGCAGCCCCTGGCAGGCGAGGAGGTGAGC c.3060
P R P Q V T W T K E G Q P L A G E E V S p.1020
. . . . . . g.24076
ATCCGCAACAGCCCCACAGACACCATCCTGTTCATCCGGGCCGCTCGCCGCGTGCATTCA c.3120
I R N S P T D T I L F I R A A R R V H S p.1040
. . . . . . g.24136
GGCACTTACCAGGTGACGGTGCGCATTGAGAACATGGAGGACAAGGCCACGCTGGTGCTG c.3180
G T Y Q V T V R I E N M E D K A T L V L p.1060
. | 30 . . . . . g.24419
CAGGTTGTTG | ACAAGCCAAGTCCTCCCCAGGATCTCCGGGTGACTGACGCCTGGGGTCTT c.3240
Q V V D | K P S P P Q D L R V T D A W G L p.1080
. . . . . . g.24479
AATGTGGCTCTGGAGTGGAAGCCACCCCAGGATGTCGGCAACACGGAGCTCTGGGGGTAC c.3300
N V A L E W K P P Q D V G N T E L W G Y p.1100
. . . | 31 . . . g.24759
ACAGTGCAGAAAGCCGACAAGAAGACCATG | GAGTGGTTCACCGTCTTGGAGCATTACCGC c.3360
T V Q K A D K K T M | E W F T V L E H Y R p.1120
. . . . . . g.24819
CGCACCCACTGCGTGGTGCCAGAGCTCATCATTGGCAATGGCTACTACTTCCGCGTCTTC c.3420
R T H C V V P E L I I G N G Y Y F R V F p.1140
. . . . . . g.24879
AGCCAGAATATGGTTGGCTTTAGTGACAGAGCGGCCACCACCAAGGAGCCCGTCTTTATC c.3480
S Q N M V G F S D R A A T T K E P V F I p.1160
. | 32 . . . . . g.25050
CCCAGACCAG | GCATCACCTATGAGCCACCCAACTATAAGGCCCTGGACTTCTCCGAGGCC c.3540
P R P G | I T Y E P P N Y K A L D F S E A p.1180
. . . . . . g.25110
CCAAGCTTCACCCAGCCCCTGGTGAACCGCTCGGTCATCGCGGGCTACACTGCTATGCTC c.3600
P S F T Q P L V N R S V I A G Y T A M L p.1200
. . | 33. . . . g.25477
TGCTGTGCTGTCCGGGGTAGCCCCAAG | CCCAAGATTTCCTGGTTCAAGAATGGCCTGGAC c.3660
C C A V R G S P K | P K I S W F K N G L D p.1220
. . . . . . g.25537
CTGGGAGAAGACGCCCGCTTCCGCATGTTCAGCAAGCAGGGAGTGTTGACTCTGGAGATT c.3720
L G E D A R F R M F S K Q G V L T L E I p.1240
. . . . . . g.25597
AGAAAGCCCTGCCCCTTTGACGGGGGCATCTATGTCTGCAGGGCCACCAACTTACAGGGC c.3780
R K P C P F D G G I Y V C R A T N L Q G p.1260
. . . | 34 . g.25847
GAGGCACGGTGTGAGTGCCGCCTGGAGGTGCGAG | TGCCTCAGTGA c.3825
E A R C E C R L E V R V | P Q X p.1274
. . | 35 . . . . g.26035
ccaggctggctcctggggatggccag | gtacaaccggatgccagccccgtgccaggagcct c.*60
. . . . . . g.26095
ggagggaagttggggaaacccctccctactgttggatgtatgtgtgacaagtgtgtctcc c.*120
. . . . . . g.26155
tgtgctgcgatgggggatcagcagggcagttgtcgggcagtcctgagtgggtgttgcaca c.*180
. . . . . . g.26215
gactggtccacagggctcctgaaggaagcccctggatctttggggtaaaaggagggtggc c.*240
. . . . . . g.26275
ctcaagaaacaatgtctggggacaggcctttctggcctgctatgtcttcccaatgtttat c.*300
. . . g.26312
tgggcaataaaagataagtgcagtcacagagaactca c.*337
(downstream sequence)
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