(used for variant description)
(last modified January 7, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_018328.4 in the MBD5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_017003.1, covering MBD5 transcript NM_018328.4.
(upstream sequence)
. . . | 02 g.5638
aaccaaccagccacccgtcagagagggacatgcgca | c c.-961
. . . . | 03 . . g.162713
tccagggaaggcactcaaaagtggggggcaggaaag | atgtacattgaagatgtcagtttc c.-901
. . . . . . g.162773
tacatgtgggaagtagacattgaaggctttatggtttacagacaagatctttagaagata c.-841
. | 04 . . . . g.217284
agcactaaag | gaccaaggaaataaataccagaaatcaagaagagcacacactattttcct c.-781
. . . . . . g.217344
tcatcaatccatagaaccctaatgcttctttagttccatcaaacacagaggaatgaccac c.-721
. . . . . | 05 . g.326222
catggcagatggcaacagaggatgtcaacaattttttggag | agagaagaggtactccctt c.-661
. . . . . . g.326282
atagggactcgtaaagacatagagcatctggaaattaactgcctccattacactgctgag c.-601
. . . . . | 06 . g.442208
tcacacacaacgcttgttatgttttcatcacttctctccagaag | gctacattattggaat c.-541
. . . . . . g.442268
tttgaagtcatgaaaacatcagatgaaccaacctgcaacaccttggattcagattggaag c.-481
. . . . . . g.442328
ataaagagaaagtttaaagaatgtggcctataaaggcgggtacctggaaatattaaccga c.-421
. . . . . . g.442388
ctcacactgtaaaaatgagaccagtttctaaacaatagagattgtcttagtacaacatca c.-361
. . . . . . g.442448
aggttcaagacaaatgttgaactaaaaactttacactccccacccccacttcagacaggt c.-301
. . . . . . g.442508
accagcattggtgaattatgattttccttagtcagaagcactcatttttacccatgtaga c.-241
. . . . . . g.442568
ccatccttaggaattaaatattggttatttaatgtagattataatgggaagctgattttt c.-181
. . . . . . g.442628
ttcacaatggcatatttcaaggacttggttccaaactgagctgaagcttcccaatgcgtt c.-121
. . . . . . g.442688
ttgtacagtctgggaaaaactgtgctgcactggcccacttttgaaggccatcatgctctg c.-61
. . . . . . g.442748
taatataaggatatcatcttattgctgatatctttggagagtccctagcagacacagaaa c.-1
. . . . . . g.442808
ATGAATGGAGGCAAAGAGTGTGACGGAGGGGACAAGGAAGGAGGTCTTCCAGCTATACAA c.60
M N G G K E C D G G D K E G G L P A I Q p.20
. . . . . | 07 . g.446578
GTTCCTGTGGGTTGGCAGCGTCGTGTGGATCAAAATGGAGTGCTTTATGTCAG | TCCCAGT c.120
V P V G W Q R R V D Q N G V L Y V S | P S p.40
. . . . . . g.446638
GGGTCTTTGTTATCTTGCTTGGAGCAGGTTAAAACATACCTGCTTACTGATGGAACATGC c.180
G S L L S C L E Q V K T Y L L T D G T C p.60
. . . | 08 . . . g.447752
AAGTGTGGCTTGGAATGTCCTCTTATTCTTCCCAAG | GTATTTAATTTTGATCCTGGAGCT c.240
K C G L E C P L I L P K | V F N F D P G A p.80
. . . . . . g.447812
GCTGTGAAACAGAGAACCGCAGAAGATGTTAAGGCAGATGAAGATGTCACAAAGCTATGC c.300
A V K Q R T A E D V K A D E D V T K L C p.100
. . . . . . g.447872
ATACATAAAAGAAAAATTATTGCAGTGGCCACACTTCATAAAAGCATGGAAGCCCCACAT c.360
I H K R K I I A V A T L H K S M E A P H p.120
. . . | 09. . . g.452353
CCTTCTCTGGTGCTCACCAGTCCCGGAGGAGGAACAA | ATGCAACTCCAGTAGTACCTTCT c.420
P S L V L T S P G G G T N | A T P V V P S p.140
. . . . . . g.452413
CGGGCAGCAACTCCAAGATCAGTAAGAAATAAGTCTCATGAAGGAATTACAAATTCTGTA c.480
R A A T P R S V R N K S H E G I T N S V p.160
. . . . . . g.452473
ATGCCTGAATGTAAGAATCCTTTCAAGTTAATGATTGGATCATCAAATGCCATGGGAAGG c.540
M P E C K N P F K L M I G S S N A M G R p.180
. . . . . . g.452533
CTATATGTACAAGAACTGCCTGGAAGCCAACAACAAGAACTCCACCCTGTCTACCCCCGA c.600
L Y V Q E L P G S Q Q Q E L H P V Y P R p.200
. . . . . . g.452593
CAGAGATTGGGCAGCAGTGAACATGGACAGAAATCTCCATTCCGTGGCAGCCATGGAGGC c.660
Q R L G S S E H G Q K S P F R G S H G G p.220
. . . . . . g.452653
CTGCCCAGCCCAGCGTCATCAGGTTCCCAGATATATGGAGATGGTTCAATCTCTCCAAGG c.720
L P S P A S S G S Q I Y G D G S I S P R p.240
. . . . . . g.452713
ACTGACCCACTTGGAAGTCCTGATGTTTTCACAAGAAGTAATCCTGGTTTTCATGGAGCT c.780
T D P L G S P D V F T R S N P G F H G A p.260
. . . . . . g.452773
CCCAATTCTAGTCCTATTCACCTGAATAGGACTCCTCTTTCTCCACCTTCAGTAATGCTA c.840
P N S S P I H L N R T P L S P P S V M L p.280
. . . . . . g.452833
CATGGTTCTCCTGTACAGTCATCCTGTGCAATGGCTGGAAGGACTAATATACCTCTTTCC c.900
H G S P V Q S S C A M A G R T N I P L S p.300
. . . . . . g.452893
CCAACCTTGACTACAAAGAGTCCAGTAATGAAAAAACCAATGTGTAATTTTTCAACTAAT c.960
P T L T T K S P V M K K P M C N F S T N p.320
. . . . . . g.452953
ATGGAAATACCACGAGCAATGTTCCACCACAAACCACCCCAAGGCCCACCTCCCCCTCCT c.1020
M E I P R A M F H H K P P Q G P P P P P p.340
. . . . . . g.453013
CCACCTTCTTGTGCTCTTCAGAAAAAGCCATTAACATCTGAGAAAGATCCACTTGGCATT c.1080
P P S C A L Q K K P L T S E K D P L G I p.360
. . . . . . g.453073
CTTGACCCTATTCCTAGTAAACCAGTGAATCAGAACCCTGTTATCATTAATCCAACCAGT c.1140
L D P I P S K P V N Q N P V I I N P T S p.380
. . . . . . g.453133
TTCCATTCAAATGTCCACTCTCAGGTACCTATGATGAATGTAAGCATGCCTCCTGCTGTT c.1200
F H S N V H S Q V P M M N V S M P P A V p.400
. . . . . . g.453193
GTTCCTTTGCCAAGTAATCTCCCATTGCCAACTGTAAAACCTGGTCACATGAATCATGGG c.1260
V P L P S N L P L P T V K P G H M N H G p.420
. . . . . . g.453253
AGTCATGTACAAAGAGTTCAGCATTCAGCTTCAACCTCCCTGTCCCCTTCTCCAGTGACA c.1320
S H V Q R V Q H S A S T S L S P S P V T p.440
. . . . . . g.453313
TCCCCCGTGCACATGATGGGGACTGGAATTGGAAGGATTGAGGCATCGCCCCAAAGATCA c.1380
S P V H M M G T G I G R I E A S P Q R S p.460
. . . . . . g.453373
CGCTCATCTTCCACATCATCAGATCATGGAAATTTCATGATGCCACCTGTAGGACCCCAG c.1440
R S S S T S S D H G N F M M P P V G P Q p.480
. . . . . . g.453433
GCCACTTCTAGTGGTATTAAGGTTCCACCCAGGTCACCAAGGTCAACAATAGGGTCCCCA c.1500
A T S S G I K V P P R S P R S T I G S P p.500
. . . . . . g.453493
AGGCCATCAATGCCATCAAGCCCTTCTACCAAGTCCGATGGACATCATCAGTACAAGGAT c.1560
R P S M P S S P S T K S D G H H Q Y K D p.520
. . . . . . g.453553
ATCCCTAACCCATTAATTGCTGGAATAAGTAATGTACTAAATACCCCAAGCAGTGCAGCT c.1620
I P N P L I A G I S N V L N T P S S A A p.540
. . . . . . g.453613
TTTCCTACTGCATCTGCCGGAAGTAGTTCTGTAAAGAGTCAGCCTGGTTTGCTGGGAATG c.1680
F P T A S A G S S S V K S Q P G L L G M p.560
. . . . . . g.453673
CCTTTAAATCAGATCTTGAACCAGCACAATGCTGCCTCCTTTCCAGCAAGTAGTTTACTC c.1740
P L N Q I L N Q H N A A S F P A S S L L p.580
. . . . . . g.453733
TCAGCAGCAGCCAAAGCACAGCTAGCAAATCAAAACAAACTTGCTGGTAACAACAGTAGC c.1800
S A A A K A Q L A N Q N K L A G N N S S p.600
. . . . . . g.453793
AGCAGTAGCAATTCTGGAGCTGTTGCCGGCAGTGGCAACACTGAAGGACATAGCACTTTA c.1860
S S S N S G A V A G S G N T E G H S T L p.620
. . . . . . g.453853
AACACCATGTTCCCTCCTACTGCCAACATGCTTCTCCCAACAGGTGAAGGGCAAAGTGGT c.1920
N T M F P P T A N M L L P T G E G Q S G p.640
. . . . . . g.453913
CGAGCAGCACTAAGAGATAAGCTGATGTCTCAGCAAAAAGACGCATTGCGGAAAAGAAAA c.1980
R A A L R D K L M S Q Q K D A L R K R K p.660
. . . . . . g.453973
CAACCACCTACGACAGTGTTGAGTTTGCTCAGACAGTCTCAAATGGATAGTTCTGCAGTT c.2040
Q P P T T V L S L L R Q S Q M D S S A V p.680
. . . . . . g.454033
CCTAAACCTGGACCTGACTTGCTAAGGAAGCAGGGTCAGGGTTCATTTCCCATCAGTTCA c.2100
P K P G P D L L R K Q G Q G S F P I S S p.700
. . . . . . g.454093
ATGTCTCAGTTACTACAGTCTATGAGTTGTCAAAGCTCTCACTTGAGTAGCAATAGTACC c.2160
M S Q L L Q S M S C Q S S H L S S N S T p.720
. . . . . . g.454153
CCGGGTTGTGGGGCCTCAAATACTGCTTTGCCTTGCTCTGCTAACCAGCTGCATTTTACA c.2220
P G C G A S N T A L P C S A N Q L H F T p.740
. . . . . . g.454213
GATCCCAGTATGAACTCTAGTGTTCTTCAGAACATACCTTTAAGAGGGGAAGCCGTGCAC c.2280
D P S M N S S V L Q N I P L R G E A V H p.760
. . . . . . g.454273
TGCCACAATGCAAACACTAACTTTGTTCACAGTAACAGTCCAGTCCCCAACCACCATCTT c.2340
C H N A N T N F V H S N S P V P N H H L p.780
. . . . . . g.454333
GCAGGTTTAATAAATCAGATTCAGGCTAGCGGGAACTGTGGGATGCTCAGTCAGTCGGGC c.2400
A G L I N Q I Q A S G N C G M L S Q S G p.800
. . . . . . g.454393
ATGGCTTTAGGAAATTCCTTACATCCCAATCCACCTCAGTCAAGAATTTCAACGTCCTCC c.2460
M A L G N S L H P N P P Q S R I S T S S p.820
. . . . . | 10 g.467101
ACTCCAGTGATACCAAACAGCATTGTTAGCAGCTATAATCAAACAAGTTCTGAAGCAG | GC c.2520
T P V I P N S I V S S Y N Q T S S E A G | p.840
. . . . . . g.467161
GGTTCAGGACCATCATCCTCCATAGCCATAGCGGGCACCAACCACCCTGCCATCACAAAG c.2580
G S G P S S S I A I A G T N H P A I T K p.860
. . . . . . g.467221
ACAACATCTGTTCTTCAAGATGGCGTCATAGTCACCACTGCAGCTGGAAACCCACTGCAG c.2640
T T S V L Q D G V I V T T A A G N P L Q p.880
. . . . . . g.467281
AGTCAGCTACCCATTGGGAGTGATTTTCCTTTTGTTGGCCAGGAGCACGCACTTCATTTT c.2700
S Q L P I G S D F P F V G Q E H A L H F p.900
. . . . . . g.467341
CCATCCAACAGCACTTCAAACAACCATCTTCCACACCCCTTGAACCCCAGCCTCCTCAGT c.2760
P S N S T S N N H L P H P L N P S L L S p.920
. . . . . . g.467401
TCTCTACCTATCTCTTTGCCAGTGAATCAACAGCATCTCCTAAACCAGAATCTATTAAAT c.2820
S L P I S L P V N Q Q H L L N Q N L L N p.940
. . | 11 . . . . g.469766
ATCCTCCAGCCTTCAGCAGGAGAAG | GTGATATGTCATCAATAAACAATACTTTGAGTAAC c.2880
I L Q P S A G E G | D M S S I N N T L S N p.960
. . . . . . g.469826
CATCAACTGACTCATCTACAGTCGCTGTTAAACAACAATCAGATGTTTCCTCCAAATCAG c.2940
H Q L T H L Q S L L N N N Q M F P P N Q p.980
. . . . . . g.469886
CAACAGCAGCAACTTCTCCAGGGGTACCAGAATCTCCAGGCGTTCCAAGGACAGTCCACA c.3000
Q Q Q Q L L Q G Y Q N L Q A F Q G Q S T p.1000
. . . . . | 12 . g.473381
ATTCCTTGCCCAGCTAACAATAACCCCATGGCTTGTCTGTTTCAGAACTTTCAG | GTGAGA c.3060
I P C P A N N N P M A C L F Q N F Q | V R p.1020
. . . . . . g.473441
ATGCAGGAAGATGCAGCTCTCCTAAACAAAAGAATAAGCACTCAGCCTGGGCTCACAGCA c.3120
M Q E D A A L L N K R I S T Q P G L T A p.1040
. . . . . . g.473501
CTTCCTGAGAATCCAAACACTACACTTCCACCTTTTCAAGATACACCTTGTGAGTTGCAA c.3180
L P E N P N T T L P P F Q D T P C E L Q p.1060
. . . . . . g.473561
CCGAGGATTGACCCATCTCTTGGTCAACAGGTGAAGGATGGCCTCGTTGTGGGTGGCCCA c.3240
P R I D P S L G Q Q V K D G L V V G G P p.1080
. . . . . . g.473621
GGTGATGCTTCCGTAGATGCCATTTACAAAGCAGTTGTCGATGCAGCCAGCAAAGGAATG c.3300
G D A S V D A I Y K A V V D A A S K G M p.1100
. . . . . . g.473681
CAGGTTGTCATCACCACTGCAGTCAACAGTACAACTCAGATCAGCCCCATTCCAGCTCTG c.3360
Q V V I T T A V N S T T Q I S P I P A L p.1120
. . . . . . g.473741
AGTGCCATGAGTGCCTTCACTGCCTCAATTGGTGACCCATTAAATCTCTCCAGTGCTGTC c.3420
S A M S A F T A S I G D P L N L S S A V p.1140
. . . . . . g.473801
AGTGCGGTCATTCATGGACGGAACATGGGAGGTGTTGATCATGATGGTAGGCTGAGGAAT c.3480
S A V I H G R N M G G V D H D G R L R N p.1160
. . . . . . g.473861
TCAAGAGGGGCTCGGCTGCCCAAGAATCTAGACCATGGGAAAAATGTGAACGAAGGAGAT c.3540
S R G A R L P K N L D H G K N V N E G D p.1180
. . . . . . g.473921
GGGTTTGAATATTTCAAGTCAGCAAGTTGCCACACATCCAAAAAACAGTGGGACGGGGAG c.3600
G F E Y F K S A S C H T S K K Q W D G E p.1200
. . . . . . g.473981
CAAAGCCCCAGAGGGGAGCGAAACAGGTGGAAGTACGAGGAATTTTTAGATCATCCAGGC c.3660
Q S P R G E R N R W K Y E E F L D H P G p.1220
. . . . . . g.474041
CATATCCACAGTAGTCCTTGTCATGAAAGGCCCAACAATGTCTCTACACTGCCATTTCTG c.3720
H I H S S P C H E R P N N V S T L P F L p.1240
. . . . . . g.474101
CCTGGGGAACAGCACCCAATACTGTTACCACCAAGAAACTGTCCAGGGGATAAAATTCTA c.3780
P G E Q H P I L L P P R N C P G D K I L p.1260
. . . . . . g.474161
GAGGAAAATTTCAGGTATAATAACTACAAAAGAACTATGATGAGTTTTAAGGAGAGACTA c.3840
E E N F R Y N N Y K R T M M S F K E R L p.1280
. . . . . . g.474221
GAGAACACTGTGGAAAGATGTGCACACATAAATGGGAATAGACCTCGACAGAGTCGGGGA c.3900
E N T V E R C A H I N G N R P R Q S R G p.1300
. . . . . . g.474281
TTTGGAGAGCTGCTAAGCACTGCAAAGCAAGACCTGGTCCTAGAGGAGCAGTCTCCAAGT c.3960
F G E L L S T A K Q D L V L E E Q S P S p.1320
. . . . . . g.474341
TCCTCAAATAGTTTGGAAAATTCTCTGGTCAAAGACTACATCCATTACAATGGAGACTTT c.4020
S S N S L E N S L V K D Y I H Y N G D F p.1340
. . . . . . g.474401
AATGCCAAAAGCGTTAATGGGTGTGTGCCTAGCCCTTCAGATGCTAAAAGCATTAGTAGT c.4080
N A K S V N G C V P S P S D A K S I S S p.1360
. . . . . . g.474461
GAAGATGACCTAAGGAACCCAGACTCCCCCTCTTCAAATGAATTGATACATTATAGACCA c.4140
E D D L R N P D S P S S N E L I H Y R P p.1380
. . . . . . g.474521
AGGACGTTCAATGTTGGCGACTTGGTCTGGGGCCAAATCAAAGGACTGACTTCCTGGCCT c.4200
R T F N V G D L V W G Q I K G L T S W P p.1400
. . . . . . g.474581
GGAAAATTAGTAAGAGAAGACGACGTTCACAATTCATGTCAACAAAGCCCCGAGGAAGGG c.4260
G K L V R E D D V H N S C Q Q S P E E G p.1420
| 13 . . . . . . g.486482
AAG | GTGGAGCCCGAGAAGTTGAAGACACTAACAGAAGGTTTGGAAGCCTACAGCCGTGTC c.4320
K | V E P E K L K T L T E G L E A Y S R V p.1440
. | 14. . . . . g.494092
CGGAAAAGGAACAGAAA | AAGTGGAAAGCTAAATAACCATTTAGAAGCTGCTATTCATGAG c.4380
R K R N R K | S G K L N N H L E A A I H E p.1460
. . . | 15 . . . g.496886
GCCATGAGTGAACTGGACAAAATGTCTGGGACT | GTACACCAAATCCCACAGGGTGACAGA c.4440
A M S E L D K M S G T | V H Q I P Q G D R p.1480
. . . . g.496931
CAAATGAGACCCCCCAAACCCAAGAGGAGGAAGATCTCCAGATAA c.4485
Q M R P P K P K R R K I S R X p.1494
. . . . . . g.496991
cagagactactccactaatgcgcagtgtttattaaaggaacatgcacagatgtatctgta c.*60
. . . . . . g.497051
tataggtattgatatagccacagttatatcaatatttagactatggcagatagctaccac c.*120
. . . . . . g.497111
caccacagggtgctaaaagaaacagtgatacaaaatttttttgatcaggaaggataatga c.*180
. . . . . . g.497171
atgctggaaaagccaatcaaagtctctgtgtgatgagagtgatcaatggtcaagagatta c.*240
. . . . . . g.497231
ctgagaaactctttttctataatactaaattgtgattataagaaatagtccaaatgtttc c.*300
. . . . . . g.497291
tgaagaattttcaatgttgtatatagaaaatacagaatttcatggtgatatcagaaatgt c.*360
. . . . . . g.497351
aaatattgtacagtattgtcatgtacaagcgtacctaatgcacactttatcttttattgt c.*420
. . . . . . g.497411
acaaagaaatagtgtacaaaattctttggtttctatggagtacacctaccagagactacc c.*480
. . . . . g.497467
agtgtaaagtgataaataaaaatacaacctaaatgcttttctatgataatgtaaaa c.*536
(downstream sequence)
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