(used for variant description)
(last modified February 25, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_003906.3 in the MCM3AP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000021.8, covering MCM3AP transcript NM_003906.3.
(upstream sequence)
. . . g.5036
taatacttaattaccttctaataattggagcagaag c.-1
. . . . . . g.5096
ATGAACCCAACTAATCCTTTCAGTGGGCAGCAGCCTAGTGCTTTTTCGGCGTCTTCTAGT c.60
M N P T N P F S G Q Q P S A F S A S S S p.20
. . . . . . g.5156
AATGTAGGAACACTTCCATCTAAGCCGCCATTTCGATTTGGTCAACCTTCTCTTTTTGGA c.120
N V G T L P S K P P F R F G Q P S L F G p.40
. . . . . . g.5216
CAAAACAGTACCTTATCTGGGAAGAGCTCGGGATTTTCACAGGTATCCAGCTTTCCAGCG c.180
Q N S T L S G K S S G F S Q V S S F P A p.60
. . . . . . g.5276
TCTTCTGGAGTAAGTCATTCCTCTTCAGTGCAAACATTAGGGTTCACCCAAACCTCAAGT c.240
S S G V S H S S S V Q T L G F T Q T S S p.80
. . . . . . g.5336
GTTGGACCCTTTTCTGGACTTGAGCACACTTCCACCTTTGTGGCTACCTCTGGGCCTTCA c.300
V G P F S G L E H T S T F V A T S G P S p.100
. . . . . . g.5396
AGTTCATCTGTGCTGGGAAACACAGGATTTAGTTTTAAATCACCCACCAGTGTTGGGGCT c.360
S S S V L G N T G F S F K S P T S V G A p.120
. . . . . . g.5456
TTCCCAAGCACTTCTGCTTTTGGACAAGAAGCTGGAGAAATAGTGAACTCTGGTTTTGGG c.420
F P S T S A F G Q E A G E I V N S G F G p.140
. . . . . . g.5516
AAAACAGAATTCAGCTTTAAACCTCTGGAAAATGCAGTGTTCAAACCAATACTGGGGGCT c.480
K T E F S F K P L E N A V F K P I L G A p.160
. . . . . . g.5576
GAATCTGAGCCAGAGAAAACCCAGAGCCAAATTGCTTCTGGGTTTTTTACATTTTCCCAC c.540
E S E P E K T Q S Q I A S G F F T F S H p.180
. . . . . . g.5636
CCAATTAGTAGTGCACCTGGAGGCCTGGCCCCTTTCTCTTTTCCTCAAGTAACAAGTAGT c.600
P I S S A P G G L A P F S F P Q V T S S p.200
. . . . . . g.5696
TCAGCTACCACTTCAAATTTTACCTTTTCAAAACCTGTTAGTAGTAATAATTCATTATCT c.660
S A T T S N F T F S K P V S S N N S L S p.220
. . . . . . g.5756
GCCTTTACCCCTGCTTTGTCAAACCAAAATGTAGAGGAAGAGAAGAGAGGACCTAAGTCA c.720
A F T P A L S N Q N V E E E K R G P K S p.240
. . . . . . g.5816
ATATTTGGAAGTTCTAATAATAGCTTCAGTAGCTTCCCTGTATCATCTGCGGTTTTGGGC c.780
I F G S S N N S F S S F P V S S A V L G p.260
. . . . . . g.5876
GAACCTTTCCAGGCTAGCAAAGCAGGTGTCAGGCAGGGGTGTGAAGAAGCTGTTTCCCAG c.840
E P F Q A S K A G V R Q G C E E A V S Q p.280
. . . . . . g.5936
GTGGAACCACTTCCCAGCCTAATGAAAGGACTGAAAAGGAAGGAGGACCAGGATCGCTCC c.900
V E P L P S L M K G L K R K E D Q D R S p.300
. . . . . . g.5996
CCAAGGAGACATGGCCACGAGCCAGCAGAAGATTCGGATCCTCTGTCCCGGGGCGATCAT c.960
P R R H G H E P A E D S D P L S R G D H p.320
. . . . . . g.6056
CCTCCAGACAAACGACCTGTCCGCCTGAATCGACCCCGGGGAGGTACTTTATTTGGTCGG c.1020
P P D K R P V R L N R P R G G T L F G R p.340
. . . . . . g.6116
ACGATACAGGATGTTTTCAAAAGCAATAAGGAAGTAGGTCGTCTGGGCAACAAGGAGGCC c.1080
T I Q D V F K S N K E V G R L G N K E A p.360
. . . . . . g.6176
AAAAAGGAAACTGGCTTTGTTGAGTCTGCAGAAAGTGACCACATGGCTATCCCAGGAGGG c.1140
K K E T G F V E S A E S D H M A I P G G p.380
. . . . . . g.6236
AATCAGTCTGTCCTGGCACCTTCCCGGATTCCAGGTGTGAATAAAGAGGAAGAAACTGAA c.1200
N Q S V L A P S R I P G V N K E E E T E p.400
. | 02 . . . . g.6525
AGTAGAGAGAAGAAAGAAG | ATTCTCTAAGAGGAACTCCGGCGCGTCAGAGTAACAGAAGC c.1260
S R E K K E D | S L R G T P A R Q S N R S p.420
. . . . . . g.6585
GAGAGCACAGACAGTCTTGGGGGCTTGTCTCCCTCTGAAGTCACAGCCATCCAGTGCAAG c.1320
E S T D S L G G L S P S E V T A I Q C K p.440
. . . . . . g.6645
AACATCCCTGACTACCTCAACGACAGGACCATTCTGGAGAACCATTTTGGCAAAATTGCT c.1380
N I P D Y L N D R T I L E N H F G K I A p.460
. . . . . . g.6705
AAAGTGCAGCGCATCTTTACCAGGCGCAGCAAAAAGCTTGCAGTGGTACATTTCTTTGAT c.1440
K V Q R I F T R R S K K L A V V H F F D p.480
| 03 . . . . . . g.9804
CAT | GCATCTGCAGCCCTGGCTAGAAAGAAGGGGAAAAGTTTGCATAAAGACATGGCTATC c.1500
H | A S A A L A R K K G K S L H K D M A I p.500
. . | 04 . . . . g.10223
TTTTGGCACAGGAAGAAAATAA | GCCCCAATAAGAAACCCTTTTCCCTGAAGGAGAAGAAA c.1560
F W H R K K I S | P N K K P F S L K E K K p.520
. . . . . . g.10283
CCAGGTGACGGTGAAGTCAGCCCGAGCACAGAGGATGCACCCTTTCAGCACTCTCCTCTT c.1620
P G D G E V S P S T E D A P F Q H S P L p.540
. . . . | 05. . g.12618
GGCAAGGCCGCAGGGAGGACTGGTGCTAGCAGCCTCCTGAATAAAAG | CTCTCCAGTGAAG c.1680
G K A A G R T G A S S L L N K S | S P V K p.560
. . . . . . g.12678
AAGCCAAGTCTTCTAAAGGCCCACCAATTCGAGGGAGACTCTTTTGACTCAGCCTCCGAG c.1740
K P S L L K A H Q F E G D S F D S A S E p.580
. . . . . . g.12738
GGCTCCGAGGGCCTCGGGCCATGTGTGCTCTCCCTCAGTACCCTGATAGGCACTGTGGCT c.1800
G S E G L G P C V L S L S T L I G T V A p.600
. . . . . | 06 g.14999
GAGACATCCAAGGAGAAGTACCGCCTGCTTGACCAGAGAGACAGGATCATGCGGCAAG | CT c.1860
E T S K E K Y R L L D Q R D R I M R Q A | p.620
. . . . . . g.15059
CGGGTGAAGAGAACCGATCTGGACAAAGCGAGGACTTTTGTTGGCACCTGCCTGGATATG c.1920
R V K R T D L D K A R T F V G T C L D M p.640
. . . . . . g.15119
TGTCCTGAGAAGGAGAGGTACATGCGGGAGACCCGTAGCCAGCTGAGCGTGTTCGAAGTG c.1980
C P E K E R Y M R E T R S Q L S V F E V p.660
. | 07 . . . . g.16779
GTCCCAGGGACTGACCAG | GTGGACCACGCAGCAGCTGTGAAAGAGTACAGTCGGTCCTCG c.2040
V P G T D Q | V D H A A A V K E Y S R S S p.680
. . . . . . g.16839
GCGGATCAGGAGGAGCCCCTGCCCCACGAGCTGCGGCCCTTGCCAGTGCTCAGCAGGACC c.2100
A D Q E E P L P H E L R P L P V L S R T p.700
. . . . . . g.16899
ATGGACTACCTGGTGACCCAGATCATGGACCAGAAGGAGGGCAGCCTGCGGGATTGGTAT c.2160
M D Y L V T Q I M D Q K E G S L R D W Y p.720
. . . | 08 . . . g.17517
GACTTCGTGTGGAACCGCACGCGTGGCATACGGAAG | GATATCACGCAGCAGCACCTCTGT c.2220
D F V W N R T R G I R K | D I T Q Q H L C p.740
. . . . . . g.17577
GACCCCCTGACGGTGTCCCTGATTGAGAAGTGCACCCGGTTTCACATCCACTGTGCCCAC c.2280
D P L T V S L I E K C T R F H I H C A H p.760
. . . . . . g.17637
TTCATGTGTGAGGAGCCCATGTCCTCCTTTGATGCCAAGATCAATAATGAGAACATGACC c.2340
F M C E E P M S S F D A K I N N E N M T p.780
. . . . . . g.17697
AAGTGCCTGCAGAGCCTGAAGGAGATGTACCAGGACCTGAGAAACAAGGGTGTCTTCTGT c.2400
K C L Q S L K E M Y Q D L R N K G V F C p.800
. . . . . . g.17757
GCCAGCGAAGCGGAGTTCCAGGGCTACAATGTTCTGCTCAGTCTCAACAAGGGAGACATC c.2460
A S E A E F Q G Y N V L L S L N K G D I p.820
| 09 . . . . . . g.19814
CTAAG | AGAAGTACAACAGTTCCATCCTGCTGTTAGAAACTCATCTGAGGTGAAATTTGCT c.2520
L R | E V Q Q F H P A V R N S S E V K F A p.840
. . . . . . g.19874
GTTCAGGCTTTTGCTGCATTGAACAGTAATAATTTTGTGAGATTTTTCAAACTGGTCCAG c.2580
V Q A F A A L N S N N F V R F F K L V Q p.860
. . . . | 10 . g.23192
TCAGCTTCTTACCTGAACGCTTGTCTTTTACACTGTTACTTCAGTCAG | ATCCGCAAGGAT c.2640
S A S Y L N A C L L H C Y F S Q | I R K D p.880
. . . . . . g.23252
GCTCTCCGGGCGCTCAACTTTGCGTACACGGTGAGCACACAGCGATCTACCATCTTTCCC c.2700
A L R A L N F A Y T V S T Q R S T I F P p.900
. . . . . . g.23312
CTGGATGGTGTGGTGCGCATGCTGCTGTTCAGAGACTGTGAAGAGGCCACCGACTTCCTC c.2760
L D G V V R M L L F R D C E E A T D F L p.920
. . | 11 . . . g.24187
ACCTGCCACGGCCTCACCGTTTCCGACGG | CTGTGTGGAGCTGAACCGGTCTGCATTCCTG c.2820
T C H G L T V S D G | C V E L N R S A F L p.940
. . . . . . g.24247
GAACCAGAGGGATTATCCAAGACCAGGAAGTCGGTGTTTATTACTAGGAAGCTGACGGTG c.2880
E P E G L S K T R K S V F I T R K L T V p.960
. . . . . . g.24307
TCAGTCGGGGAAATTGTGAACGGAGGGCCATTGCCCCCCGTCCCTCGTCATACCCCTGTG c.2940
S V G E I V N G G P L P P V P R H T P V p.980
. . . . . . g.24367
TGCAGCTTCAACTCCCAGAACAAGTACATCGGGGAGAGCCTGGCCGCGGAGCTGCCCGTC c.3000
C S F N S Q N K Y I G E S L A A E L P V p.1000
. . . | 12 . . . g.24828
AGCACCCAGAGACCCGGCTCCGACACAGTGG | GCGGAGGGAGAGGAGAGGAGTGTGGTGTA c.3060
S T Q R P G S D T V G | G G R G E E C G V p.1020
. . . . . . g.24888
GAGCCGGATGCACCCCTGTCCAGTCTCCCACAGTCTCTACCAGCCCCTGCGCCCTCACCA c.3120
E P D A P L S S L P Q S L P A P A P S P p.1040
. . . . . . g.24948
GTGCCTCTGCCTCCTGTCCTGGCACTGACCCCGTCTGTGGCGCCCAGCCTCTTCCAGCTG c.3180
V P L P P V L A L T P S V A P S L F Q L p.1060
. . . . . | 13 . g.26111
TCTGTGCAGCCTGAACCACCGCCTCCAGAGCCCGTGCCCATGTACTCTGACGAG | GACCTG c.3240
S V Q P E P P P P E P V P M Y S D E | D L p.1080
. . . . . . g.26171
GCGCAGGTGGTGGACGAGCTCATCCAGGAGGCCCTGCAGAGGGACTGTGAGGAAGTTGGC c.3300
A Q V V D E L I Q E A L Q R D C E E V G p.1100
. . . | 14 . . . g.28936
TCTGCGGGTGCTGCCTACGCAGCTGCCGCCCTGGG | TGTTTCTAATGCTGCTATGGAGGAT c.3360
S A G A A Y A A A A L G | V S N A A M E D p.1120
. . . . . . g.28996
TTGTTAACAGCTGCAACCACGGGCATTTTGAGGCACATTGCAGCTGAAGAAGTGTCTAAG c.3420
L L T A A T T G I L R H I A A E E V S K p.1140
. . . . | 15. . g.29429
GAAAGAGAGCGAAGGGAGCAGGAGAGGCAGCGGGCTGAAGAGGAAAG | GTTGAAACAAGAG c.3480
E R E R R E Q E R Q R A E E E R | L K Q E p.1160
. . . . . . g.29489
AGAGAGCTGGTGTTAAGTGAGCTGAGCCAGGGCCTGGCCGTGGAGCTGATGGAACGCGTG c.3540
R E L V L S E L S Q G L A V E L M E R V p.1180
. . . . | 16 . . g.31250
ATGATGGAGTTTGTGAGGGAAACCTGCTCCCAGGAGTTGAA | GAATGCAGTAGAGACAGAC c.3600
M M E F V R E T C S Q E L K | N A V E T D p.1200
. . . . . . g.31310
CAGAGGGTCCGTGTGGCCCGTTGCTGTGAGGATGTCTGTGCCCACTTAGTGGACTTGTTT c.3660
Q R V R V A R C C E D V C A H L V D L F p.1220
. . . . . . g.31370
CTCGTGGAGGAAATCTTCCAGACTGCAAAGGAGACCCTCCAGGAGCTTCAGTGCTTCTGC c.3720
L V E E I F Q T A K E T L Q E L Q C F C p.1240
. | 17 . . . . . g.33382
AAGTATCTACAGCG | GTGGAGGGAAGCTGTCACAGCCCGCAAGAAACTGAGGCGCCAAATG c.3780
K Y L Q R | W R E A V T A R K K L R R Q M p.1260
. . . . . . g.33442
CGGGCTTTCCCTGCTGCGCCCTGCTGCGTGGACGTGAGCGACCGGCTGAGGGCGCTGGCG c.3840
R A F P A A P C C V D V S D R L R A L A p.1280
. . . . . . g.33502
CCCAGCGCAGAGTGCCCCATTGCTGAAGAGAACCTGGCCAGGGGCCTCCTGGACCTGGGC c.3900
P S A E C P I A E E N L A R G L L D L G p.1300
. . . | 18 . . . g.35506
CATGCAGGGAGATTGGGCATCTCCTGCACCAG | GTTAAGGCGGCTCAGAAACAAGACAGCT c.3960
H A G R L G I S C T R | L R R L R N K T A p.1320
. . . . | 19 . . g.35815
CACCAGATGAAGGTTCAGCACTTCTACCAGCAGCTGCTGAG | TGATGTGGCATGGGCGTCT c.4020
H Q M K V Q H F Y Q Q L L S | D V A W A S p.1340
. . . . . . g.35875
CTGGACCTGCCATCCCTCGTGGCTGAGCACCTCCCTGGGAGGCAGGAGCATGTGTTTTGG c.4080
L D L P S L V A E H L P G R Q E H V F W p.1360
. . . . . | 20 . g.38644
AAGCTGGTGCTGGTGTTGCCGGATGTAGAGGAGCAGTCCCCAGAGAGTTGTGGCAG | AATT c.4140
K L V L V L P D V E E Q S P E S C G R | I p.1380
. . . . . . g.38704
CTAGCAAATTGGTTAAAAGTCAAGTTCATGGGAGATGAAGGCTCAGTGGATGACACATCC c.4200
L A N W L K V K F M G D E G S V D D T S p.1400
. . . . . . g.38764
AGCGATGCTGGTGGGATTCAGACGCTTTCGCTTTTCAACTCACTTAGCAGCAAAGGGGAT c.4260
S D A G G I Q T L S L F N S L S S K G D p.1420
. . . | 21 . . . g.43466
CAGATGATTTCTGTTAACGTGTGTATAAAG | GTGGCCCATGGCGCCCTCAGTGATGGTGCC c.4320
Q M I S V N V C I K | V A H G A L S D G A p.1440
. . . . . . g.43526
ATTGATGCTGTGGAGACACAGAAGGACCTCCTGGGAGCCAGTGGGCTCATGCTGCTGCTT c.4380
I D A V E T Q K D L L G A S G L M L L L p.1460
. . . . . . g.43586
CCCCCCAAAATGAAGAGTGAGGACATGGCAGAGGAGGACGTGTACTGGCTGTCGGCCTTG c.4440
P P K M K S E D M A E E D V Y W L S A L p.1480
. . . . . . g.43646
CTGCAGCTCAAGCAGCTCCTGCAGGCTAAGCCCTTCCAGCCTGCGCTTCCTCTGGTGGTT c.4500
L Q L K Q L L Q A K P F Q P A L P L V V p.1500
. . . . | 22 . g.43929
CTTGTGCCTAGCCCAGGAGGGGACGCCGTTGAGAAGGAAGTAGAAGATG | GTCTGATGCTA c.4560
L V P S P G G D A V E K E V E D G | L M L p.1520
. . . . . . g.43989
CAGGACTTGGTTTCAGCTAAGCTGATTTCAGATTACACTGTTACCGAGATCCCTGATACC c.4620
Q D L V S A K L I S D Y T V T E I P D T p.1540
. . | 23. . . . g.45158
ATTAATGATCTACAAGGTTCAACTAAG | GTTTTGCAAGCAGTGCAGTGGCTGGTTTCCCAC c.4680
I N D L Q G S T K | V L Q A V Q W L V S H p.1560
. . . . . . g.45218
TGCCCCCATTCCCTTGACCTCTGCTGCCAGACTCTCATTCAGTACGTCGAAGACGGGATT c.4740
C P H S L D L C C Q T L I Q Y V E D G I p.1580
. . . . . . g.45278
GGCCATGAGTTTAGTGGCCGCTTTTTCCATGACAGAAGAGAGAGGCGTCTGGGCGGTCTT c.4800
G H E F S G R F F H D R R E R R L G G L p.1600
. . . . . . g.45338
GCTTCTCAGGAGCCTGGCGCCATCATTGAGCTGTTTAACAGTGTGCTGCAGTTCCTGGCT c.4860
A S Q E P G A I I E L F N S V L Q F L A p.1620
. . . . . . g.45398
TCTGTGGTGTCCTCTGAACAGCTGTGTGACCTGTCCTGGCCTGTCACTGAGTTTGCTGAG c.4920
S V V S S E Q L C D L S W P V T E F A E p.1640
. . . . . . g.45458
GCAGGGGGCAGCCGGCTGCTTCCTCACCTGCACTGGAATGCCCCAGAGCACCTGGCCTGG c.4980
A G G S R L L P H L H W N A P E H L A W p.1660
. . . . . | 24 g.46602
CTGAAGCAGGCTGTGCTCGGGTTCCAGCTTCCGCAGATGGACCTTCCACCCCTGGGGG | CC c.5040
L K Q A V L G F Q L P Q M D L P P L G A | p.1680
. . . . . . g.46662
CCCTGGCTCCCCGTGTGCTCCATGGTTGTCCAGTACGCCTCCCAGATCCCCAGCTCACGC c.5100
P W L P V C S M V V Q Y A S Q I P S S R p.1700
. . . . . . g.46722
CAGACACAGCCTGTCCTCCAGTCCCAGGTGGAGAACCTGCTCCACAGAACCTACTGTAGG c.5160
Q T Q P V L Q S Q V E N L L H R T Y C R p.1720
. . . . . . g.46782
TGGAAGAGCAAGAGTCCCTCCCCAGTCCATGGGGCAGGCCCCTCGGTCATGGAGATCCCA c.5220
W K S K S P S P V H G A G P S V M E I P p.1740
. . . . . . g.46842
TGGGATGATCTTATCGCCTTGTGTATCAACCACAAGCTGAGAGACTGGACGCCCCCCCGG c.5280
W D D L I A L C I N H K L R D W T P P R p.1760
. | 25 . . . . . g.47435
CTTCCTGTTACATCAG | AGGCGCTGAGTGAAGATGGTCAGATATGTGTGTATTTTTTTAAA c.5340
L P V T S E | A L S E D G Q I C V Y F F K p.1780
. . . . . . g.47495
AACGATTTGAAAAAATATGATGTTCCTTTGTCGTGGGAACAAGCCAGGTTGCAGACGCAG c.5400
N D L K K Y D V P L S W E Q A R L Q T Q p.1800
. . | 26 . . . . g.49339
AAGGAGCTACAGCTGAGAGAGGGACG | TTTGGCAATAAAGCCTTTTCATCCTTCTGCAAAC c.5460
K E L Q L R E G R | L A I K P F H P S A N p.1820
. . . . . . g.49399
AATTTTCCCATACCATTGCTTCACATGCACCGTAACTGGAAGAGGAGCACAGAGTGTGCT c.5520
N F P I P L L H M H R N W K R S T E C A p.1840
. . . . . . g.49459
CAAGAGGGGAGGATTCCCAGCACAGAGGATCTGATGCGAGGAGCTTCTGCTGAGGAGCTC c.5580
Q E G R I P S T E D L M R G A S A E E L p.1860
. . . . . | 27 . g.53350
TTGGCGCAGTGTTTGTCGAGCAGTCTGCTGCTGGAGAAAGAAGAGAACAAGAG | GTTTGAA c.5640
L A Q C L S S S L L L E K E E N K R | F E p.1880
. . . . . . g.53410
GATCAGCTTCAGCAATGGTTGTCTGAAGACTCAGGAGCATTTACGGATTTAACTTCCCTT c.5700
D Q L Q Q W L S E D S G A F T D L T S L p.1900
. . . . . . g.53470
CCCCTCTATCTTCCTCAGACTCTAGTGTCTCTTTCTCACACTATTGAACCTGTGATGAAA c.5760
P L Y L P Q T L V S L S H T I E P V M K p.1920
. . | 28 . . . . g.54932
ACATCTGTAACTACTAGCCCACAG | AGTGACATGATGAGGGAGCAACTGCAGCTGTCAGAG c.5820
T S V T T S P Q | S D M M R E Q L Q L S E p.1940
. . . . . . g.54992
GCGACAGGAACGTGTCTAGGCGAACGACTAAAGCACCTGGAAAGGCTGATCCGGAGTTCA c.5880
A T G T C L G E R L K H L E R L I R S S p.1960
. . . . . . g.55052
AGGGAAGAGGAAGTTGCCTCTGAGCTCCATCTCTCTGCGCTGCTAGACATGGTGGACATT c.5940
R E E E V A S E L H L S A L L D M V D I p.1980
g.55055
TGA c.5943
X p.1980
. . . . . . g.55115
gcagcctgacctgtggggagggggtctctcccgaagagtttctgtttttactcaaaataa c.*60
. . . . . . g.55175
tgttattctcagatgcttgatgcactgttggaaatgtgattaatttaatcatgcagataa c.*120
. g.55189
accatttaaatgtc c.*134
(downstream sequence)
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