(used for variant description)
(last modified October 26, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_006739.3 in the MCM5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering MCM5 transcript NM_006739.3.
(upstream sequence)
. . . g.5034
accgcctcttgtttttcccgcgaaactcggcggc c.-61
. . . . . . | 02 g.5316
tgagcgtggaggttcttgtctcccctggtttgtgaagtgcggaaaaccagag | gcgcagtc c.-1
. . . . . . g.5376
ATGTCGGGATTCGACGATCCTGGCATTTTCTACAGCGACAGCTTCGGGGGCGACGCCCAG c.60
M S G F D D P G I F Y S D S F G G D A Q p.20
. . . . . . g.5436
GCCGACGAGGGGCAGGCCCGCAAATCGCAGCTGCAGAGGCGCTTCAAGGAGTTCCTGCGG c.120
A D E G Q A R K S Q L Q R R F K E F L R p.40
. . . . | 03. . g.8097
CAGTACCGAGTGGGCACCGACCGCACGGGCTTCACCTTCAAATACAG | GGATGAACTCAAG c.180
Q Y R V G T D R T G F T F K Y R | D E L K p.60
. . . . . . g.8157
CGGCATTACAACCTGGGGGAGTACTGGATTGAGGTGGAGATGGAGGATCTGGCCAGCTTT c.240
R H Y N L G E Y W I E V E M E D L A S F p.80
. . . . . | 04 . g.8297
GATGAGGACCTGGCCGACTACTTGTACAAGCAGCCAGCCGAGCACCTGCAGCTG | CTGGAG c.300
D E D L A D Y L Y K Q P A E H L Q L | L E p.100
. . . . . . g.8357
GAAGCTGCCAAGGAGGTAGCTGATGAGGTGACCCGGCCCCGGCCTTCTGGGGAGGAGGTG c.360
E A A K E V A D E V T R P R P S G E E V p.120
. . . . . . g.8417
CTCCAGGACATCCAGGTCATGCTCAAGTCGGACGCCAGCCCTTCCAGCATTCGTAGCCTG c.420
L Q D I Q V M L K S D A S P S S I R S L p.140
| 05 . . . . . . g.11487
AAG | TCGGACATGATGTCACACCTGGTGAAGATCCCTGGCATCATCATCGCGGCCTCTGCG c.480
K | S D M M S H L V K I P G I I I A A S A p.160
. . . . . . g.11547
GTCCGTGCCAAGGCCACCCGCATCTCTATCCAGTGCCGCAGCTGCCGCAACACCCTCACC c.540
V R A K A T R I S I Q C R S C R N T L T p.180
. . . . . | 06 . g.13289
AACATTGCCATGCGCCCTGGCCTCGAGGGCTATGCCCTGCCCAGGAAGTGCAACAC | AGAT c.600
N I A M R P G L E G Y A L P R K C N T | D p.200
. . . . . . g.13349
CAGGCTGGGCGCCCCAAATGCCCATTGGACCCGTACTTCATCATGCCCGACAAATGCAAA c.660
Q A G R P K C P L D P Y F I M P D K C K p.220
. . . . . . g.13409
TGCGTGGACTTCCAGACCCTGAAGCTGCAGGAGCTGCCTGATGCAGTCCCCCACGGGGAG c.720
C V D F Q T L K L Q E L P D A V P H G E p.240
. . . | 07 . . . g.15649
ATGCCCAGACACATGCAGCTCTACTGCGACAG | GTACCTGTGTGACAAGGTCGTCCCTGGG c.780
M P R H M Q L Y C D R | Y L C D K V V P G p.260
. . . . . . g.15709
AACAGGGTTACCATCATGGGCATCTACTCCATCAAGAAGTTTGGCCTGACTACCAGCAGG c.840
N R V T I M G I Y S I K K F G L T T S R p.280
. . . . . . g.15769
GGCCGTGACAGGGTGGGCGTGGGCATCCGAAGCTCCTACATCCGTGTCCTGGGCATCCAG c.900
G R D R V G V G I R S S Y I R V L G I Q p.300
. | 08 . . . . g.17428
GTGGACACAGATGGCTCTG | GCCGCAGCTTTGCTGGGGCCGTGAGCCCCCAGGAGGAGGAG c.960
V D T D G S G | R S F A G A V S P Q E E E p.320
. . . . . . g.17488
GAGTTCCGTCGCCTGGCTGCCCTCCCAAATGTCTATGAGGTCATCTCCAAGAGCATCGCC c.1020
E F R R L A A L P N V Y E V I S K S I A p.340
. . . . . . g.17548
CCCTCCATCTTTGGGGGCACAGACATGAAGAAGGCCATTGCCTGCCTGCTCTTTGGGGGC c.1080
P S I F G G T D M K K A I A C L L F G G p.360
. | 09 . . . . . g.18801
TCCCGAAAGAG | GCTCCCTGATGGACTTACTCGCCGAGGAGACATCAACCTGCTGATGCTA c.1140
S R K R | L P D G L T R R G D I N L L M L p.380
. . . . . . g.18861
GGGGACCCTGGGACAGCCAAGTCCCAGCTTCTGAAGTTTGTGGAGAAGTGTTCTCCCATT c.1200
G D P G T A K S Q L L K F V E K C S P I p.400
| 10 . . . . . . g.20763
GGG | GTATACACGTCTGGGAAAGGCAGCAGCGCAGCTGGACTGACAGCCTCGGTGATGAGG c.1260
G | V Y T S G K G S S A A G L T A S V M R p.420
. . . . . . g.20823
GACCCTTCGTCCCGGAATTTCATCATGGAGGGCGGAGCCATGGTCCTGGCCGATGGTGGG c.1320
D P S S R N F I M E G G A M V L A D G G p.440
. . | 11. . . . g.21249
GTCGTCTGTATTGACGAGTTTGACAAG | ATGCGAGAAGATGACCGTGTGGCAATCCACGAA c.1380
V V C I D E F D K | M R E D D R V A I H E p.460
. . . | 12 . . . g.21542
GCCATGGAGCAGCAGACCATCTCTATCGCCAAG | GCTGGGATCACCACCACCCTGAACTCC c.1440
A M E Q Q T I S I A K | A G I T T T L N S p.480
. . . . . . g.21602
CGCTGCTCCGTCCTGGCTGCTGCCAACTCAGTGTTCGGCCGCTGGGATGAGACGAAGGGG c.1500
R C S V L A A A N S V F G R W D E T K G p.500
. . . . . . g.21662
GAGGACAACATTGACTTCATGCCCACCATCTTGTCGCGCTTCGACATGATCTTCATCGTC c.1560
E D N I D F M P T I L S R F D M I F I V p.520
. . . | 13 . . . g.22651
AAGGATGAGCACAATGAGGAGAGGGATGTG | ATGCTGGCCAAGCATGTCATCACTCTGCAC c.1620
K D E H N E E R D V | M L A K H V I T L H p.540
. . . . . . g.22711
GTGAGCGCACTGACACAGACACAGGCTGTGGAGGGCGAGATTGACCTGGCCAAGCTGAAG c.1680
V S A L T Q T Q A V E G E I D L A K L K p.560
. . | 14 . . . . g.24798
AAGTTTATTGCCTACTGCCGAGT | GAAGTGTGGCCCCCGGCTGTCAGCAGAGGCTGCAGAG c.1740
K F I A Y C R V | K C G P R L S A E A A E p.580
. . . . . . g.24858
AAACTGAAGAACCGCTACATCATCATGCGGAGCGGGGCCCGTCAGCACGAGAGGGACAGT c.1800
K L K N R Y I I M R S G A R Q H E R D S p.600
. . . | 15 . . . g.26223
GACCGCCGCTCCAGCATCCCCATCACTGTGCG | GCAGCTGGAGGCCATTGTGCGCATCGCG c.1860
D R R S S I P I T V R | Q L E A I V R I A p.620
. . . . . . g.26283
GAAGCCCTCAGCAAGATGAAGCTGCAGCCCTTCGCCACAGAGGCAGATGTGGAGGAGGCC c.1920
E A L S K M K L Q P F A T E A D V E E A p.640
. . . . . | 16 . g.28096
CTGCGGCTCTTCCAAGTGTCCACGTTGGATGCTGCCTTGTCCGGTACCCTGTCAG | GGGTG c.1980
L R L F Q V S T L D A A L S G T L S G | V p.660
. . . . . . g.28156
GAGGGCTTCACCAGCCAGGAGGACCAGGAGATGCTGAGCCGCATCGAGAAGCAGCTCAAG c.2040
E G F T S Q E D Q E M L S R I E K Q L K p.680
. . . . . . g.28216
CGCCGCTTTGCCATTGGCTCCCAGGTGTCTGAGCACAGCATCATCAAGGACTTCACCAAG c.2100
R R F A I G S Q V S E H S I I K D F T K p.700
| 17 . . . . . . g.29088
CAG | AAATACCCGGAGCACGCCATCCACAAGGTGCTGCAGCTCATGCTGCGGCGCGGCGAG c.2160
Q | K Y P E H A I H K V L Q L M L R R G E p.720
. . . . g.29133
ATCCAGCATCGCATGCAGCGCAAGGTTCTCTACCGCCTCAAGTGA c.2205
I Q H R M Q R K V L Y R L K X p.734
. . . . . . g.29193
gtcgcgccgcctcactggactcatggactcgcccacgcctcgcccctcctgccgctgcct c.*60
. . . . . . g.29253
gccattgacaatgttgctgggacctctgcctccccactgcagccctcgaacttcccaggc c.*120
. . . . . . g.29313
accctcctttctgccccagaggaaggagctgtagtgtcctgctgcctctgggcgcccgcc c.*180
. . . . . . g.29373
tctagcgcggttctgggaagtgtgcttttggcatccgttaataataaagccacggtgtgt c.*240
g.29380
tcaggta c.*247
(downstream sequence)
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