(used for variant description)
(last modified June 8, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_003682.3 in the MADD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029462.1, covering MADD transcript NM_003682.3.
(upstream sequence)
. g.5283
accgcggccgc c.-181
. . . . . . g.5343
gcgcccccctctgcccccgctgcccaggattggtaggctccaccgctcggcagccggctt c.-121
. . . . | 02 . . g.9479
ccctgctcggacgccgagcaccgccaaagcgc | acttcgattttcagaattcctcctggga c.-61
. . . . . . g.9539
atgctgactccttgcttggtgccctgatgcttctctgagataaactgatgaattggaacc c.-1
. . . . . . g.9599
ATGGTGCAAAAGAAGAAGTTCTGTCCTCGGTTACTTGACTATCTAGTGATCGTAGGGGCC c.60
M V Q K K K F C P R L L D Y L V I V G A p.20
| 03 . . . . . . g.10245
AG | GCACCCGAGCAGTGATAGCGTGGCCCAGACTCCTGAATTGCTACGGCGATACCCCTTG c.120
R | H P S S D S V A Q T P E L L R R Y P L p.40
. . . . . . g.10305
GAGGATCACACTGAGTTTCCCCTGCCCCCAGATGTAGTGTTCTTCTGCCAGCCCGAGGGC c.180
E D H T E F P L P P D V V F F C Q P E G p.60
. . . . . . g.10365
TGCCTGAGCGTGCGGCAGCGGCGCATGAGCCTTCGGGATGATACCTCTTTTGTCTTCACC c.240
C L S V R Q R R M S L R D D T S F V F T p.80
. . . . . . g.10425
CTCACTGACAAGGACACTGGAGTCACGCGATATGGCATCTGTGTTAACTTCTACCGCTCC c.300
L T D K D T G V T R Y G I C V N F Y R S p.100
. . . . . . g.10485
TTCCAAAAGCGAATCTCTAAGGAGAAGGGGGAAGGTGGGGCAGGGTCCCGTGGGAAGGAA c.360
F Q K R I S K E K G E G G A G S R G K E p.120
. . . . . . g.10545
GGAACCCATGCCACCTGTGCCTCAGAAGAGGGTGGCACTGAGAGCTCAGAGAGTGGCTCA c.420
G T H A T C A S E E G G T E S S E S G S p.140
. . . . . . g.10605
TCCCTGCAGCCTCTCAGTGCTGACTCTACCCCTGATGTGAACCAGTCTCCTCGGGGCAAA c.480
S L Q P L S A D S T P D V N Q S P R G K p.160
. . . . . . g.10665
CGCCGGGCCAAGGCGGGGAGCCGCTCCCGCAACAGTACTCTCACGTCCCTGTGCGTGCTC c.540
R R A K A G S R S R N S T L T S L C V L p.180
. . . . . . g.10725
AGCCACTACCCTTTCTTCTCCACCTTCCGAGAGTGTTTGTATACTCTCAAGCGCCTGGTG c.600
S H Y P F F S T F R E C L Y T L K R L V p.200
. . . . . | 04 g.11524
GACTGCTGTAGTGAGCGCCTTCTGGGCAAGAAACTGGGCATCCCTCGAGGCGTACAAAG | G c.660
D C C S E R L L G K K L G I P R G V Q R | p.220
. . . . . . g.11584
GACACCATGTGGCGGATCTTTACTGGATCGCTGCTGGTAGAGGAGAAGTCAAGTGCCCTT c.720
D T M W R I F T G S L L V E E K S S A L p.240
. . . . . . g.11644
CTGCATGACCTTCGAGAGATTGAGGCCTGGATCTATCGATTGCTGCGCTCCCCAGTACCC c.780
L H D L R E I E A W I Y R L L R S P V P p.260
. . . . . . g.11704
GTCTCTGGGCAGAAGCGAGTAGACATCGAGGTCCTACCCCAAGAGCTCCAGCCAGCTCTG c.840
V S G Q K R V D I E V L P Q E L Q P A L p.280
. . . . . . g.11764
ACCTTTGCTCTTCCAGACCCATCTCGATTCACCCTAGTGGATTTCCCACTGCACCTTCCC c.900
T F A L P D P S R F T L V D F P L H L P p.300
. . . . . . g.11824
TTGGAACTTCTAGGTGTGGACGCCTGTCTCCAGGTGCTAACCTGCATTCTGTTAGAGCAC c.960
L E L L G V D A C L Q V L T C I L L E H p.320
| 05 . . . . . . g.12413
AAG | GTGGTGCTACAGTCCCGAGACTACAATGCACTCTCCATGTCTGTGATGGCATTCGTG c.1020
K | V V L Q S R D Y N A L S M S V M A F V p.340
. . . . . . g.12473
GCAATGATCTACCCACTGGAGTATATGTTTCCTGTCATCCCGCTGCTACCCACCTGCATG c.1080
A M I Y P L E Y M F P V I P L L P T C M p.360
. | 06 . . . . . g.13834
GCATCAGCAGAGCAG | CTGCTGTTGGCTCCAACCCCGTACATCATTGGGGTTCCTGCCAGC c.1140
A S A E Q | L L L A P T P Y I I G V P A S p.380
. . . . . . g.13894
TTCTTCCTCTACAAACTGGACTTCAAAATGCCTGATGATGTATGGCTAGTGGATCTGGAC c.1200
F F L Y K L D F K M P D D V W L V D L D p.400
| 07 . . . . . g.14674
AGCAATAGG | GTGATTGCCCCCACCAATGCAGAAGTGCTGCCTATCCTGCCAGAACCAGAA c.1260
S N R | V I A P T N A E V L P I L P E P E p.420
. . . | 08 . . . g.17229
TCACTAGAGCTGAAAAAGCATTTAAAGCAG | GCCTTGGCCAGCATGAGTCTCAACACCCAG c.1320
S L E L K K H L K Q | A L A S M S L N T Q p.440
. . . . . . g.17289
CCCATCCTCAATCTGGAGAAATTTCATGAGGGCCAGGAGATCCCCCTTCTCTTGGGAAGG c.1380
P I L N L E K F H E G Q E I P L L L G R p.460
. . . . . . g.17349
CCTTCTAATGACCTGCAGTCCACACCGTCCACTGAATTCAACCCACTCATCTATGGCAAT c.1440
P S N D L Q S T P S T E F N P L I Y G N p.480
. . | 09 . . . g.18036
GATGTGGATTCTGTGGATGTTGCAACCAG | GGTTGCCATGGTACGGTTCTTCAATTCCGCC c.1500
D V D S V D V A T R | V A M V R F F N S A p.500
. . . . . . g.18096
AACGTGCTGCAGGGATTTCAGATGCACACGCGTACCCTGCGCCTCTTTCCTCGGCCTGTG c.1560
N V L Q G F Q M H T R T L R L F P R P V p.520
. . . . . . g.18156
GTAGCTTTTCAAGCTGGCTCCTTTCTAGCCTCACGTCCCCGGCAGACTCCTTTTGCCGAG c.1620
V A F Q A G S F L A S R P R Q T P F A E p.540
. . . . . . g.18216
AAATTGGCCAGGACTCAGGCTGTGGAGTACTTTGGGGAATGGATCCTTAACCCCACCAAC c.1680
K L A R T Q A V E Y F G E W I L N P T N p.560
. . | 10 . . . . g.18472
TATGCCTTTCAGCGAATTCACAACA | ATATGTTTGATCCAGCCCTGATTGGTGACAAGCCA c.1740
Y A F Q R I H N N | M F D P A L I G D K P p.580
. . . . . . g.18532
AAGTGGTATGCTCATCAGCTGCAGCCTATCCACTATCGCGTCTATGACAGCAATTCCCAG c.1800
K W Y A H Q L Q P I H Y R V Y D S N S Q p.600
. . . . . . g.18592
CTGGCTGAGGCCCTGAGTGTACCACCAGAGCGGGACTCTGACTCCGAACCTACTGATGAT c.1860
L A E A L S V P P E R D S D S E P T D D p.620
| 11 . . . . . . g.19860
AG | TGGCAGTGATAGTATGGATTATGACGATTCAAGCTCTTCTTACTCCTCCCTTGGTGAC c.1920
S | G S D S M D Y D D S S S S Y S S L G D p.640
. . . . | 12 . . g.20013
TTTGTCAGTGAAATGATGAAATGTGACATTAATGGTGATACTCCCA | ATGTGGACCCTCTG c.1980
F V S E M M K C D I N G D T P N | V D P L p.660
. . . . . . g.20073
ACACATGCAGCACTGGGGGATGCCAGCGAGGTGGAGATTGACGAGCTGCAGAATCAGAAG c.2040
T H A A L G D A S E V E I D E L Q N Q K p.680
. . . . . . g.20133
GAAGCAGAAGAGCCTGGCCCAGACAGTGAGAACTCTCAGGAAAACCCCCCACTGCGCTCC c.2100
E A E E P G P D S E N S Q E N P P L R S p.700
. . . . . | 13. g.20568
AGCTCTAGCACCACAGCCAGCAGCAGCCCCAGCACTGTCATCCACGGAGCCAACTCT | GAA c.2160
S S S T T A S S S P S T V I H G A N S | E p.720
. . . . . . g.20628
CCTGCTGACTCTACGGAGATGGATGATAAGGCAGCAGTAGGCGTCTCCAAGCCCCTCCCT c.2220
P A D S T E M D D K A A V G V S K P L P p.740
. . . . . . g.20688
TCCGTGCCTCCCAGCATTGGCAAATCGAACGTGGACAGACGTCAGGCAGAAATTGGAGAG c.2280
S V P P S I G K S N V D R R Q A E I G E p.760
. . . . . . g.20748
GGGTCAGTGCGCCGGCGAATCTATGACAATCCATACTTCGAGCCCCAATATGGCTTTCCC c.2340
G S V R R R I Y D N P Y F E P Q Y G F P p.780
. . . . . . g.20808
CCTGAGGAAGATGAGGATGAGCAGGGGGAAAGTTACACTCCCCGATTCAGCCAACATGTC c.2400
P E E D E D E Q G E S Y T P R F S Q H V p.800
. | 14 . . . . . g.21124
AGTGGCAATCG | GGCTCAAAAGCTGCTGCGGCCCAACAGCTTGAGACTGGCAAGTGACTCA c.2460
S G N R | A Q K L L R P N S L R L A S D S p.820
. . . . . . g.21184
GATGCAGAGTCAGACTCTCGGGCAAGCTCTCCCAACTCCACCGTCTCCAACACCAGCACC c.2520
D A E S D S R A S S P N S T V S N T S T p.840
. . . | 15 . . . g.22086
GAGGGCTTCGGGGGCATCATGTCTTTTGCCA | GCAGCCTCTATCGGAACCACAGTACCAGC c.2580
E G F G G I M S F A S | S L Y R N H S T S p.860
. . . . . . g.22146
TTCAGTCTTTCAAACCTCACACTGCCCACCAAAGGTGCCCGAGAGAAGGCCACGCCCTTC c.2640
F S L S N L T L P T K G A R E K A T P F p.880
. | 16 . . . . . g.24639
CCCAGTCTGAAAG | TATTTGGGCTAAATACTCTAATGGAGATTGTTACTGAAGCCGGCCCC c.2700
P S L K V | F G L N T L M E I V T E A G P p.900
. | 17 . . . . . g.25062
GGGAGTGGTGAAG | GAAACAGGAGGGCGTTAGTGGATCAGAAGTCATCTGTCATTAAACAC c.2760
G S G E G | N R R A L V D Q K S S V I K H p.920
. . . . . | 18 . g.25495
AGCCCAACAGTGAAAAGAGAACCTCCATCACCCCAGGGTCGATCCAGCAATTCTAG | TGAG c.2820
S P T V K R E P P S P Q G R S S N S S | E p.940
. . . . . . g.25555
AACCAGCAGTTCCTGAAGGAGGTGGTGCACAGCGTGCTGGACGGCCAGGGAGTTGGCTGG c.2880
N Q Q F L K E V V H S V L D G Q G V G W p.960
. . . . . . g.25615
CTCAACATGAAAAAGGTGCGCCGGCTGCTGGAGAGCGAGCAGCTGCGAGTCTTTGTCCTG c.2940
L N M K K V R R L L E S E Q L R V F V L p.980
. . . . . . g.25675
AGCAAGCTGAACCGCATGGTGCAGTCAGAGGACGATGCCCGGCAGGACATCATCCCGGAT c.3000
S K L N R M V Q S E D D A R Q D I I P D p.1000
| 19 . . . . . . g.25830
GTG | GAGATCAGTCGGAAGGTGTACAAGGGAATGTTAGACCTCCTCAAGTGTACAGTCCTC c.3060
V | E I S R K V Y K G M L D L L K C T V L p.1020
. . . . . . g.25890
AGCTTGGAGCAGTCCTATGCCCACGCGGGTCTGGGTGGCATGGCCAGCATCTTTGGGCTT c.3120
S L E Q S Y A H A G L G G M A S I F G L p.1040
. . . | 20 . . . g.26260
TTGGAGATTGCCCAGACCCACTACTATAGTAAAG | AACCAGACAAGCGGAAGAGAAGTCCA c.3180
L E I A Q T H Y Y S K E | P D K R K R S P p.1060
. . . . . . g.26320
ACAGAAAGTGTAAATACCCCAGTTGGCAAGGATCCTGGCCTAGCTGGGCGGGGGGACCCA c.3240
T E S V N T P V G K D P G L A G R G D P p.1080
. . . . . . g.26380
AAGGCTATGGCACAACTGAGAGTTCCACAACTGGGACCTCGGGCACCAAGTGCCACAGGA c.3300
K A M A Q L R V P Q L G P R A P S A T G p.1100
. . . . . . g.26440
AAGGGTCCTAAGGAACTGGACACCAGAAGTTTAAAGGAAGAAAATTTTATAGCATCTATT c.3360
K G P K E L D T R S L K E E N F I A S I p.1120
| 21 . . . . . | 22 . g.29512
G | AATTGTGGAACAAGCACCAGGAAGTGAAAAAGCAAAAAGCTTTGGAAAAACAGA | GGCCT c.3420
E | L W N K H Q E V K K Q K A L E K Q R | P p.1140
. . . . . . g.29572
GAAGTAATCAAACCTGTCTTTGACCTTGGTGAGACAGAGGAGAAAAAGTCCCAGATCAGC c.3480
E V I K P V F D L G E T E E K K S Q I S p.1160
. . . | 23 . . . g.31144
GCAGACAGTGGTGTGAGCCTGACGTCTAGTTCCCAG | AGGACTGATCAAGACTCTGTCATC c.3540
A D S G V S L T S S S Q | R T D Q D S V I p.1180
. . . . . . g.31204
GGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTG c.3600
G V S P A V M I R S S S Q D S E V S T V p.1200
| 24 . . . . . . g.31581
| GTGAGTAATAGCTCTGGAGAGACCCTTGGAGCTGACAGTGACTTGAGCAGCAATGCAGGT c.3660
| V S N S S G E T L G A D S D L S S N A G p.1220
. . . . . . g.31641
GATGGACCAGGTGGCGAGGGCAGTGTTCACCTGGCAAGCTCTCGGGGCACTTTGTCTGAT c.3720
D G P G G E G S V H L A S S R G T L S D p.1240
. . . | 25 . . g.44236
AGTGAAATTGAGACCAACTCTGCCACAAGCACCATCTTT | GGTAAAGCCCACAGCTTGAAG c.3780
S E I E T N S A T S T I F | G K A H S L K p.1260
. . . . . . g.44296
CCAAGCATAAAGGAGAAGCTGGCAGGCAGCCCCATTCGTACTTCTGAAGATGTGAGCCAG c.3840
P S I K E K L A G S P I R T S E D V S Q p.1280
. . | 26 . . . g.44636
CGAGTCTATCTCTATGAGGGACTCCTAG | GAAGGGACAAAGGATCCATGTGGGACCAGTTA c.3900
R V Y L Y E G L L G | R D K G S M W D Q L p.1300
. . . | 27 . . . g.44934
GAGGATGCAGCTATGGAGACCTTTTCTATAA | GCAAAGAGCGTTCTACTTTATGGGACCAA c.3960
E D A A M E T F S I S | K E R S T L W D Q p.1320
. . . . . . g.44994
ATGCAATTCTGGGAAGATGCCTTCTTAGATGCTGTGATGTTGGAGAGAGAAGGGATGGGT c.4020
M Q F W E D A F L D A V M L E R E G M G p.1340
. . . | 28 . . . g.45159
ATGGACCAGGGTCCCCAGGAAATGATCGACAG | GTACCTGTCCCTTGGAGAACATGACCGG c.4080
M D Q G P Q E M I D R | Y L S L G E H D R p.1360
. . . . . . g.45219
AAGCGCCTGGAAGATGATGAAGATCGCTTGTTGGCCACACTTCTGCACAACCTCATCTCC c.4140
K R L E D D E D R L L A T L L H N L I S p.1380
. | 29 . . . . g.47398
TACATGCTGCTGATGAAG | GTAAATAAGAATGACATCCGCAAGAAGGTGAGGCGCCTAATG c.4200
Y M L L M K | V N K N D I R K K V R R L M p.1400
. . . . . . g.47458
GGAAAGTCGCACATTGGGCTTGTGTACAGCCAGCAAATCAATGAGGTGCTTGATCAGCTG c.4260
G K S H I G L V Y S Q Q I N E V L D Q L p.1420
| 30 . . . . . g.50895
GCGAACCTG | AATGGACGCGATCTCTCTATCTGGTCCAGTGGCAGCCGGCACATGAAGAAG c.4320
A N L | N G R D L S I W S S G S R H M K K p.1440
. . . . . | 31. g.59298
CAGACATTTGTGGTACATGCAGGGACAGATACAAACGGAGATATCTTTTTCATGGAG | GTG c.4380
Q T F V V H A G T D T N G D I F F M E | V p.1460
. . . . . . g.59358
TGCGATGACTGTGTGGTGTTGCGTAGTAACATCGGAACAGTGTATGAGCGCTGGTGGTAC c.4440
C D D C V V L R S N I G T V Y E R W W Y p.1480
. . . . . . g.59418
GAGAAGCTCATCAACATGACCTACTGTCCCAAGACGAAGGTGTTGTGCTTGTGGCGTAGA c.4500
E K L I N M T Y C P K T K V L C L W R R p.1500
. . . . | 32 . . g.59907
AATGGCTCTGAGACCCAGCTCAACAAGTTCTATACTAAAAAG | TGTCGGGAGCTGTACTAC c.4560
N G S E T Q L N K F Y T K K | C R E L Y Y p.1520
. . . . . | 33 . g.60100
TGTGTGAAGGACAGCATGGAGCGCGCTGCCGCCCGACAGCAAAGCATCAAACCCG | GACCT c.4620
C V K D S M E R A A A R Q Q S I K P G | P p.1540
. . . . . . g.60160
GAATTGGGTGGCGAGTTCCCTGTGCAGGACCTGAAGACTGGTGAGGGTGGCCTGCTGCAG c.4680
E L G G E F P V Q D L K T G E G G L L Q p.1560
. . . . | 34 . . g.62380
GTGACCCTGGAAGGGATCAACCTCAAATTCATGCACAATCAG | GTTTTCATAGAGCTGAAT c.4740
V T L E G I N L K F M H N Q | V F I E L N p.1580
. . . . . | 35 . g.64290
CACATTAAAAAGTGCAATACAGTTCGAGGCGTCTTTGTCCTGGAGGAATTTG | TTCCTGAA c.4800
H I K K C N T V R G V F V L E E F V | P E p.1600
. . . | 36 . . g.64691
ATTAAAGAAGTGGTGAGCCACAAGTACAAGACACCAATG | GCCCACGAAATCTGCTACTCC c.4860
I K E V V S H K Y K T P M | A H E I C Y S p.1620
. . . . . . g.64751
GTATTATGTCTCTTCTCGTACGTGGCTGCAGTTCATAGCAGTGAGGAAGATCTCAGAACC c.4920
V L C L F S Y V A A V H S S E E D L R T p.1640
. . g.64775
CCGCCCCGGCCTGTCTCTAGCTGA c.4944
P P R P V S S X p.1647
. . . . . . g.64835
tggagaggggctacgcagctgccccagcccagggcacgcccctggccccttgctgttccc c.*60
. . . . . . g.64895
aagtgcacgatgctgctgtgactgaggagtggatgatgctcgtgtgtcctctgcaagccc c.*120
. . . . . . g.64955
cctgctgtggcttggttggttaccggttatgtgtccctctgagtgtgtcttgagcgtgtc c.*180
. . . . . . g.65015
caccttctccctctccactcccagaagaccaaactgccttcccctcagggctcaagaatg c.*240
. . . . . . g.65075
tgtacagtctgtggggccggtgtgaacccactattttgtgtccttgagacatttgtgttg c.*300
. . . . . . g.65135
tggttccttgtccttgtccctggcgttataactgtccactgcaagagtctggctctccct c.*360
. . . . . . g.65195
tctctgtgacccggcatgactgggcgcctggagcagtttcactctgtgaggagtgaggga c.*420
. . . . . . g.65255
accctggggctcaccctctcagaggaagggcacagagaggaagggaagaattggggggca c.*480
. . . . . . g.65315
gccggagtgagtggcagcctccctgcttccttctgcattcccaagccggcagctactgcc c.*540
. . . . . . g.65375
cagggcccgcagtgttggctgctgcctgccacagcctctgtgactgcagtggagcggcga c.*600
. . . . . . g.65435
attccctgtggcctgccatgccttcggcatcagaggatggagtggtcgaggctagtggag c.*660
. . . . . . g.65495
tcccagggaccgctggctgctctgcctgagcatcagggagggggcaggaaagaccaagct c.*720
. . . . . . g.65555
gggtttgcacatctgtctgcaggctgtctctccaggcacggggtgtcaggagggagagac c.*780
. . . . . . g.65615
agcctgggtatgggcaagaaatgactgtaaatatttcagccccacattatttatagaaaa c.*840
. . . . g.65656
tgtacagttgtgtgaatgtgaaataaatgtcctcaactccc c.*881
(downstream sequence)
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