(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the MCM4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering MCM4 transcript NM_005914.3.
(upstream sequence)
. . . . g.1042
gcggggcgcggcggcaggaactttcccggggacccctgcggg c.-901
. . . . . . g.1102
aaggcctggccagtaagcgcgcctctttggcccgaatcaacatggaaacctaaggaaaaa c.-841
. . . . . . g.1162
cgtctgacctgcggaggtagtttgggtggctacttggtgttggacttggctaaataaata c.-781
. . . . . . g.1222
ccagaggcagataaaacaagcgaggggcctaggtcaagagttccaagtttgttcctcgat c.-721
. . . . . . g.1282
aaaaaacgacaaacgcggtcgggggcggtgatgcccgcctgcagtcccaacactttagga c.-661
. . . . . . g.1342
agctgaggcggggggatcgcaggagttcgagaccagtctgggcaacataatgagaccatc c.-601
. . . . . . g.1402
cccaccacctcccgtccttaattttttttaataaaaaaaatctttaagtgagaaatgcat c.-541
. . . . . . g.1462
ctgtaatgtccttattaaccaaaaacgcctaagggataaagaagcacacgctccctagcc c.-481
. . . . . . g.1522
aacgctagaggaacacaccccgagagctggtgctgtaggacccagttttcccgcgaaaac c.-421
. . . . . . g.1582
gctgccgcgcagggggtcagaccatctggaccaaggggggccgagcgaggcctacttctg c.-361
. . . . . . g.1642
gtttacgcacgggcgctgaaagaagcggcactgtccccccctgccgatgcgcagtggcgc c.-301
. . . . . . g.1702
ctcccggaggcggagccacgtacgagcgccgctgtgattggtgaggccccgccaggggcg c.-241
. . . . . . g.1762
gagacgaccttgccgccggcgggaactctgggtctcgcggtttgggagcgctactcgcca c.-181
. . . . . . g.1822
ggtggactcggagtccgcgagcgtcgtcggcaagcggccgcctttccacggtaaccgcgc c.-121
. . . . . . g.1882
gccggcggggagggcgtggcgcggagccgacgggaacgtccgcgctgcggagcagggcag c.-61
. . . . . . g.1942
ggaagccgggaggcgggcccggcccgagcttgtccttgtcgcgcaggtactccgagcact c.-1
. . . . . . g.2002
ATGTCGTCCCCGGCGTCGACCCCGAGCCGCCGCGGCAGCCGGCGTGGAAGGGCCACCCCC c.60
M S S P A S T P S R R G S R R G R A T P p.20
. | 02 . . . . . g.2363
GCCCAGACGC | CTCGGAGTGAGGATGCCAGGTCATCTCCCTCTCAGAGACGTAGAGGCGAG c.120
A Q T P | R S E D A R S S P S Q R R R G E p.40
. . . . . . g.2423
GATTCCACCTCCACGGGGGAGTTGCAGCCGATGCCAACCTCGCCTGGAGTGGACCTGCAG c.180
D S T S T G E L Q P M P T S P G V D L Q p.60
. . . . . | 03 . g.2855
AGCCCTGCTGCGCAGGACGTGCTGTTTTCCAGCCCTCCCCAAATGCATTCTTCAG | CTATC c.240
S P A A Q D V L F S S P P Q M H S S A | I p.80
. . . . . . g.2915
CCTCTTGACTTTGATGTTAGTTCACCACTGACATACGGCACTCCCAGCTCTCGGGTAGAG c.300
P L D F D V S S P L T Y G T P S S R V E p.100
. . . . . . g.2975
GGAACCCCAAGAAGTGGTGTTAGGGGCACACCTGTGAGACAGAGGCCTGACCTGGGCTCT c.360
G T P R S G V R G T P V R Q R P D L G S p.120
. . . | 04 . . g.3123
GCACAGAAGGGCCTGCAAGTGGATCTGCAGTCTGACGGG | GCAGCAGCAGAAGATATAGTG c.420
A Q K G L Q V D L Q S D G | A A A E D I V p.140
. . . . . . g.3183
GCAAGTGAGCAGTCTCTAGGCCAAAAACTTGTGATCTGGGGAACAGATGTAAATGTGGCA c.480
A S E Q S L G Q K L V I W G T D V N V A p.160
. . | 05 . . . . g.3600
GCATGCAAAGAAAACTTTCAG | AGATTTCTTCAGCGTTTTATTGACCCTCTGGCTAAAGAA c.540
A C K E N F Q | R F L Q R F I D P L A K E p.180
. . . . . | 06. g.3745
GAAGAAAATGTTGGCATAGATATTACTGAACCTCTATACATGCAACGACTTGGGGAG | ATT c.600
E E N V G I D I T E P L Y M Q R L G E | I p.200
. . . . . . g.3805
AATGTTATTGGTGAGCCATTTTTAAATGTGAACTGTGAACACATCAAATCATTTGACAAA c.660
N V I G E P F L N V N C E H I K S F D K p.220
. . . | 07 . . . g.5398
AATTTGTACAGACAACTCATCTCTTACCCACAG | GAAGTTATTCCAACTTTTGACATGGCT c.720
N L Y R Q L I S Y P Q | E V I P T F D M A p.240
. . . . . . g.5458
GTCAATGAAATCTTCTTTGACCGTTACCCTGACTCAATCTTAGAACATCAGATTCAAGTA c.780
V N E I F F D R Y P D S I L E H Q I Q V p.260
. . . . . | 08 . g.6992
AGACCATTCAACGCATTGAAGACTAAGAATATGAGAAACCTGAATCCAGAAG | ACATTGAC c.840
R P F N A L K T K N M R N L N P E D | I D p.280
. . . . . . g.7052
CAGCTCATCACCATCAGCGGCATGGTGATCAGGACATCCCAGCTGATTCCCGAGATGCAG c.900
Q L I T I S G M V I R T S Q L I P E M Q p.300
. . . . . . g.7112
GAGGCCTTCTTCCAGTGCCAAGTGTGTGCCCACACGACCCGGGTGGAGATGGACCGCGGC c.960
E A F F Q C Q V C A H T T R V E M D R G p.320
. . . . . . g.7172
CGCATTGCAGAGCCCAGTGTGTGCGGGCGCTGCCACACCACCCACAGCATGGCACTCATC c.1020
R I A E P S V C G R C H T T H S M A L I p.340
. . . | 09 . . . g.8189
CACAACCGCTCCCTCTTCTCTGACAAGCAGATG | ATCAAGCTTCAGGAGTCTCCGGAAGAC c.1080
H N R S L F S D K Q M | I K L Q E S P E D p.360
. . . . . . g.8249
ATGCCTGCAGGGCAGACACCACACACAGTTATCCTGTTTGCTCACAATGATCTCGTTGAC c.1140
M P A G Q T P H T V I L F A H N D L V D p.380
. . . | 10 . . . g.10621
AAGGTCCAGCCTGGGGACAGAGTGAATGTTACAG | GCATCTATCGAGCTGTGCCTATTCGA c.1200
K V Q P G D R V N V T G | I Y R A V P I R p.400
. . . . . . g.10681
GTCAATCCAAGAGTGAGTAATGTGAAGTCTGTCTACAAAACCCACATTGATGTCATTCAT c.1260
V N P R V S N V K S V Y K T H I D V I H p.420
. . . . . . g.10741
TATCGGAAAACGGATGCAAAACGTCTGCATGGCCTTGATGAAGAAGCAGAACAGAAACTT c.1320
Y R K T D A K R L H G L D E E A E Q K L p.440
. . . . . . g.10801
TTTTCAGAGAAACGTGTGGAATTGCTTAAGGAACTTTCCAGGAAACCAGACATTTATGAG c.1380
F S E K R V E L L K E L S R K P D I Y E p.460
. . . . . | 11 . g.11314
AGGCTTGCTTCAGCCTTGGCTCCAAGCATTTATGAACATGAAGATATAAAGAAG | GGAATT c.1440
R L A S A L A P S I Y E H E D I K K | G I p.480
. . . . . . g.11374
TTGCTTCAGCTCTTTGGCGGGACAAGGAAGGATTTTAGTCACACTGGAAGGGGCAAATTT c.1500
L L Q L F G G T R K D F S H T G R G K F p.500
. . . . . . g.11434
CGGGCTGAGATCAACATCTTGCTGTGTGGCGACCCTGGTACCAGCAAGTCCCAGCTGCTG c.1560
R A E I N I L L C G D P G T S K S Q L L p.520
. . . . . . g.11494
CAGTACGTGTACAACCTCGTCCCCAGGGGCCAGTACACGTCTGGGAAGGGCTCCAGTGCA c.1620
Q Y V Y N L V P R G Q Y T S G K G S S A p.540
. . . . . . g.11554
GTTGGCCTCACTGCGTACGTAATGAAAGACCCTGAGACAAGGCAGCTGGTCCTGCAGACA c.1680
V G L T A Y V M K D P E T R Q L V L Q T p.560
. . . . . . g.11614
GGTGCTCTTGTCCTGAGTGACAACGGCATCTGCTGTATCGATGAGTTCGACAAGATGAAT c.1740
G A L V L S D N G I C C I D E F D K M N p.580
. . . . . . g.11674
GAAAGTACAAGATCGGTATTGCATGAAGTCATGGAACAGCAGACTCTGTCCATTGCAAAG c.1800
E S T R S V L H E V M E Q Q T L S I A K p.600
| 12 . . . . . . g.12198
| GCTGGGATCATCTGTCAGCTCAATGCGCGCACCTCTGTCCTGGCAGCAGCAAATCCCATT c.1860
| A G I I C Q L N A R T S V L A A A N P I p.620
. . . . . . g.12258
GAGTCTCAGTGGAATCCTAAAAAAACAACCATTGAAAACATCCAGCTGCCTCATACTTTA c.1920
E S Q W N P K K T T I E N I Q L P H T L p.640
| 13 . . . . . g.13706
TTATCAAG | GTTTGATTTGATCTTCCTCTTGCTGGACCCTCAGGACGAAGCCTATGACAGG c.1980
L S R | F D L I F L L L D P Q D E A Y D R p.660
. . . . . . g.13766
CGTCTGGCTCACCACCTGGTCGCACTGTACTACCAGAGCGAGGAGCAGGCAGAGGAGGAG c.2040
R L A H H L V A L Y Y Q S E E Q A E E E p.680
. . . . . . g.13826
CTCCTGGACATGGCGGTGCTAAAGGACTACATTGCCTACGCGCACAGCACCATCATGCCG c.2100
L L D M A V L K D Y I A Y A H S T I M P p.700
. . . | 14 . . . g.15555
CGGCTAAGTGAGGAAGCCAGCCAGGCTCTCATCGAG | GCTTATGTAGACATGAGGAAGATT c.2160
R L S E E A S Q A L I E | A Y V D M R K I p.720
. . . . . . g.15615
GGCAGTAGCCGGGGAATGGTTTCTGCATACCCTCGACAGCTAGAGTCATTAATCCGCTTA c.2220
G S S R G M V S A Y P R Q L E S L I R L p.740
. . . . . . g.15675
GCAGAAGCCCATGCTAAAGTAAGATTGTCTAACAAAGTTGAAGCCATTGATGTGGAAGAG c.2280
A E A H A K V R L S N K V E A I D V E E p.760
. . . . . . g.15735
GCCAAACGCCTCCATCGGGAAGCTCTGAAGCAGTCTGCAACTGATCCCCGGACTGGCATC c.2340
A K R L H R E A L K Q S A T D P R T G I p.780
. . | 15 . . . . g.16547
GTGGACATATCTATTCTTACTACGG | GGATGAGTGCCACCTCTCGTAAACGGAAAGAAGAA c.2400
V D I S I L T T G | M S A T S R K R K E E p.800
. . . . . . g.16607
TTAGCTGAAGCATTGAAAAAGCTTATTTTATCTAAGGGCAAAACACCAGCTCTAAAATAC c.2460
L A E A L K K L I L S K G K T P A L K Y p.820
. . . | 16 . . g.17504
CAGCAACTTTTTGAAGATATTCGGGGACAATCTGACATA | GCAATTACTAAAGATATGTTT c.2520
Q Q L F E D I R G Q S D I | A I T K D M F p.840
. . . . . . g.17564
GAAGAAGCACTGCGTGCCCTGGCAGATGATGATTTCCTGACAGTGACTGGGAAGACCGTG c.2580
E E A L R A L A D D D F L T V T G K T V p.860
. g.17576
CGCTTGCTCTGA c.2592
R L L X p.863
. . . . . . g.17636
agccttgtgagcaaggaaggctccctgcatgtcctgcttgctgcacgccacatgggtgtg c.*60
. . . . . . g.17696
gtctgcatctcagttggccgccatcagtgtaaatagagcttaaagtcatggtttggctgc c.*120
. . . . . . g.17756
ataaaaattttctaacttgggttcaatatttgtagtgaagtatctgttttcatttttttc c.*180
. . . . . . g.17816
acgttataaataaaaatactatgctggccgggcgcggtggctcacacctgtaatcccagc c.*240
. . . . . . g.17876
actttgggaggccaatgtgggtggatcatgaggtcaggagttcaagaccagcctagccaa c.*300
. . . . . . g.17936
gatggtgaaaccccgtctctagtaaagataacaaaaaattagctgggcttgatggcatgc c.*360
. . . . . . g.17996
gcctgtaatcccagctactcgggaggttgaggcaggagaatcgcttaaacccaggcggca c.*420
. . . . . . g.18056
gaggttgcagtgagccaagatcgcgccactgcactccagcctcagcaatagagtgagact c.*480
. . . . . . g.18116
gtctcaaaaaaaaaaaaaaaaaaaaaacctgccaattttcaaacataccgtagagattat c.*540
. . . . . . g.18176
tttcaggtgccattttatagtatagcagcagggcttttactctgtgtatgcacagatgca c.*600
. . . . . . g.18236
gtctggggcatggtttgtgtgctggactttctcatggccatcatcagtatgcttatggat c.*660
. . . . . . g.18296
ttgatgacaggcatagcctgggcatatcacctcattggtaaagggctagagcctttcttt c.*720
. . . . . . g.18356
tttatggcacttctttttttgagatagggtcttactctgtcaccctggctagagtacact c.*780
. . . . . . g.18416
ggtacaatcacggctcaatgtaggcttaacctcctgggctcaggtgtatgtcactatgcc c.*840
. . . . . . g.18476
cggctactttttgtattttttggtagagacggcttcgccacgttgcccaggctgcaagcg c.*900
. . . . . . g.18536
atatgcctaggctcaagcgatctgcccacctcaacttccggaagtgctgagattacaggt c.*960
. . . . . . g.18596
gtgagccactgcacccagcctttgttttattttttattttttgagaggtatgattctttc c.*1020
. . . . . . g.18656
tagagattttttctcatggctactattagatcaggaatgggtgattggagattattagat c.*1080
. . . . . . g.18716
tctaggttaacttctaccactttaccctaatacataaaactttttcctaaataaatgatg c.*1140
. . . . . . g.18776
gaaggaataatacttggttacctggcattatttttcagtaagaaaaaagctttactaacc c.*1200
. . . . . . g.18836
actacatttatggaaatttgtaggggtaagtattttataggtcataaaaaacaccataat c.*1260
. . . . . . g.18896
ataacgaatctcattttctttaaatgtgaattaaatcctaacagtcatctttataaaatg c.*1320
. . . . . . g.18956
accataggctaaaatcttacgtgtaagtactactacaataaataatttctgaaaccttta c.*1380
g.18958
aa c.*1382
(downstream sequence)
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