(used for variant description)
(last modified December 26, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_002430.2 in the MN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023258.1, covering MN1 transcript NM_002430.2.
(upstream sequence)
. . . . . g.5055
gcgcggaggcagggaaccggagccttggagcgacccaacccctcgtctcgctgcc c.-901
. . . . . . g.5115
ctcccgcgcctgcaacggtgcgcggagactccggcgaactcagacacccaacggcggaga c.-841
. . . . . . g.5175
acagaagcggcaggcggcggacgtggccgcgaagctgcgcgccgaacgcagcgcacccgc c.-781
. . . . . . g.5235
tgccgagcagaggagccgcgcctttccccgaccctcggctccagcccccggcgcctgccg c.-721
. . . . . . g.5295
cctcgcagcccctctgcgtcctcggctcgggggccggcaccggcgatgccgagcggagcc c.-661
. . . . . . g.5355
tccagtcctccgacccgctgaagaagcagcagccgctcgcccggagcctacggggattgt c.-601
. . . . . . g.5415
gcgagcggatcgtgctcggtggaggctcgggctgcggggcgcggggactccggggggcgg c.-541
. . . . . . g.5475
ggggagggaccgctctgtcggtgcccggcgccagccgcggctttgaagggtctccctccc c.-481
. . . . . . g.5535
ctgcccttagcagctctgccacggactccgggaggctgcgggcggcgtcctgagggctcc c.-421
. . . . . . g.5595
ccagcagacccaatcggacttgagaaggtgatcgctctgctctcccaacccccttccctc c.-361
. . . . . . g.5655
cccattccccccacttaactttttgtctccgttcatccgcggcttcgtcccctccccgca c.-301
. . . . . . g.5715
gacccacccgcggctgtgacaaccgcccggggcatgggccccccaacacggctcctagag c.-241
. . . . . . g.5775
gccccgcggcctcgcaagatgtgagaggccctccccgggcagaatcggagcttcaggaga c.-181
. . . . . . g.5835
ggagctaataccccgccccccgtccctcacatcaggcggggtggaggtgcgcgctgagcc c.-121
. . . . . . g.5895
cccgcggtgctgagcgtcccggagcgcccaatcctgggctggaacgagtagctggccgga c.-61
. . . . . . g.5955
ggcgcgccgcggagagccggctgtcatgccctattgatccccctctgccccccgccaagt c.-1
. . . . . . g.6015
ATGTTTGGGCTGGACCAATTCGAGCCCCAGGTCAACAGCAGGAACGCTGGCCAGGGCGAG c.60
M F G L D Q F E P Q V N S R N A G Q G E p.20
. . . . . . g.6075
AGGAACTTTAACGAGACCGGACTGAGCATGAACACCCACTTTAAGGCCCCGGCTTTCCAC c.120
R N F N E T G L S M N T H F K A P A F H p.40
. . . . . . g.6135
ACTGGGGGGCCCCCTGGCCCTGTGGATCCTGCTATGAGCGCGCTGGGCGAACCCCCGATC c.180
T G G P P G P V D P A M S A L G E P P I p.60
. . . . . . g.6195
TTGGGCATGAACATGGAGCCCTACGGCTTCCACGCGCGCGGCCACTCGGAGTTGCACGCA c.240
L G M N M E P Y G F H A R G H S E L H A p.80
. . . . . . g.6255
GGGGGGCTGCAAGCGCAGCCTGTGCACGGCTTCTTTGGCGGCCAGCAGCCTCACCACGGC c.300
G G L Q A Q P V H G F F G G Q Q P H H G p.100
. . . . . . g.6315
CACCCGGGAAGTCATCATCCCCACCAGCATCACCCCCACTTTGGGGGCAACTTCGGTGGC c.360
H P G S H H P H Q H H P H F G G N F G G p.120
. . . . . . g.6375
CCGGACCCCGGGGCCTCGTGCCTGCACGGGGGTCGCCTGCTCGGCTACGGCGGCGCAGCC c.420
P D P G A S C L H G G R L L G Y G G A A p.140
. . . . . . g.6435
GGAGGCCTGGGCAGCCAGCCGCCCTTCGCCGAGGGCTATGAGCACATGGCGGAGAGCCAG c.480
G G L G S Q P P F A E G Y E H M A E S Q p.160
. . . . . . g.6495
GGGCCTGAGAGCTTCGGCCCGCAGCGACCGGGGAACCTCCCGGACTTCCACAGTTCAGGT c.540
G P E S F G P Q R P G N L P D F H S S G p.180
. . . . . . g.6555
GCCTCCAGCCACGCCGTGCCGGCCCCATGCCTGCCGCTGGACCAGAGCCCTAACCGAGCC c.600
A S S H A V P A P C L P L D Q S P N R A p.200
. . . . . . g.6615
GCCTCCTTCCACGGCCTGCCGTCCTCCAGCGGCTCCGATTCCCACAGTCTGGAGCCACGG c.660
A S F H G L P S S S G S D S H S L E P R p.220
. . . . . . g.6675
AGGGTGACGAACCAAGGAGCCGTCGACTCGCTGGAATACAATTACCCGGGCGAGGCGCCC c.720
R V T N Q G A V D S L E Y N Y P G E A P p.240
. . . . . . g.6735
TCGGGACATTTTGACATGTTTTCGCCCTCTGACTCCGAAGGGCAGCTGCCTCATTATGCA c.780
S G H F D M F S P S D S E G Q L P H Y A p.260
. . . . . . g.6795
GCGGGTCGCCAGGTTCCTGGGGGCGCTTTCCCGGGCGCCTCGGCCATGCCCAGAGCTGCG c.840
A G R Q V P G G A F P G A S A M P R A A p.280
. . . . . . g.6855
GGCATGGTGGGCTTGTCCAAAATGCACGCCCAGCCACCGCAGCAGCAGCCCCAGCAGCAG c.900
G M V G L S K M H A Q P P Q Q Q P Q Q Q p.300
. . . . . . g.6915
CAGCAGCCCCAGCAGCAGCAGCAGCAGCATGGTGTGTTCTTTGAGAGGTTCAGTGGGGCC c.960
Q Q P Q Q Q Q Q Q H G V F F E R F S G A p.320
. . . . . . g.6975
AGAAAGATGCCTGTGGGTCTGGAGCCCTCAGTGGGCTCCAGGCACCCGTTAATGCAGCCT c.1020
R K M P V G L E P S V G S R H P L M Q P p.340
. . . . . . g.7035
CCCCAGCAGGCCCCGCCACCCCCTCAGCAGCAGCCCCCGCAGCAGCCGCCACAGCAGCAG c.1080
P Q Q A P P P P Q Q Q P P Q Q P P Q Q Q p.360
. . . . . . g.7095
CCGCCGCCGCCACCCGGGCTTCTAGTCCGACAAAATTCGTGCCCGCCTGCGCTCCCTCGG c.1140
P P P P P G L L V R Q N S C P P A L P R p.380
. . . . . . g.7155
CCCCAGCAGGGCGAGGCGGGCACGCCCAGCGGCGGCCTGCAGGACGGAGGCCCCATGCTG c.1200
P Q Q G E A G T P S G G L Q D G G P M L p.400
. . . . . . g.7215
CCCAGCCAGCACGCGCAATTCGAGTATCCCATCCACCGGCTGGAGAACCGGAGCATGCAC c.1260
P S Q H A Q F E Y P I H R L E N R S M H p.420
. . . . . . g.7275
CCTTATTCCGAGCCTGTTTTCAGCATGCAGCATCCTCCTCCGCAGCAGGCGCCCAACCAG c.1320
P Y S E P V F S M Q H P P P Q Q A P N Q p.440
. . . . . . g.7335
CGGCTGCAGCATTTCGACGCGCCCCCCTACATGAACGTGGCCAAGAGGCCGCGCTTCGAC c.1380
R L Q H F D A P P Y M N V A K R P R F D p.460
. . . . . . g.7395
TTTCCGGGCAGCGCGGGAGTGGACCGCTGCGCTTCGTGGAACGGCAGCATGCACAACGGC c.1440
F P G S A G V D R C A S W N G S M H N G p.480
. . . . . . g.7455
GCTCTGGATAATCACCTCTCCCCTTCCGCCTACCCAGGCCTACCCGGCGAGTTCACACCG c.1500
A L D N H L S P S A Y P G L P G E F T P p.500
. . . . . . g.7515
CCTGTGCCCGACAGCTTCCCTTCGGGGCCGCCCCTGCAGCATCCGGCCCCGGACCACCAG c.1560
P V P D S F P S G P P L Q H P A P D H Q p.520
. . . . . . g.7575
TCCCTGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAA c.1620
S L Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q p.540
. . . . . . g.7635
CAGCAACAGCAACAGCAGCAGCAGCAGCAGCGCCAAAACGCGGCCCTCATGATTAAGCAG c.1680
Q Q Q Q Q Q Q Q Q Q R Q N A A L M I K Q p.560
. . . . . . g.7695
ATGGCGTCGCGGAATCAGCAGCAGCGGCTGCGCCAGCCCAACCTGGCTCAGCTAGGCCAC c.1740
M A S R N Q Q Q R L R Q P N L A Q L G H p.580
. . . . . . g.7755
CCCGGGGACGTGGGCCAGGGCGGCCTGGTGCATGGCGGCCCGGTGGGCGGCTTGGCCCAG c.1800
P G D V G Q G G L V H G G P V G G L A Q p.600
. . . . . . g.7815
CCGAACTTTGAGCGCGAAGGCGGCAGCACGGGCGCCGGGCGTCTGGGCACCTTCGAGCAG c.1860
P N F E R E G G S T G A G R L G T F E Q p.620
. . . . . . g.7875
CAGGCGCCGCACTTGGCGCAAGAGAGCGCGTGGTTCTCAGGTCCGCATCCGCCGCCCGGA c.1920
Q A P H L A Q E S A W F S G P H P P P G p.640
. . . . . . g.7935
GACCTGCTGCCCCGTAGGATGGGCGGCTCGGGTCTGCCCGCTGACTGTGGCCCGCACGAC c.1980
D L L P R R M G G S G L P A D C G P H D p.660
. . . . . . g.7995
CCCAGCCTGGCGCCCCCTCCTCCGCCTGGTGGCTCGGGGGTGCTGTTCCGGGGCCCTCTG c.2040
P S L A P P P P P G G S G V L F R G P L p.680
. . . . . . g.8055
CAGGAGCCGATGAGGATGCCCGGAGAGGGCCACGTGCCCGCGCTGCCTTCACCGGGCCTG c.2100
Q E P M R M P G E G H V P A L P S P G L p.700
. . . . . . g.8115
CAGTTCGGGGGCAGTCTGGGAGGCCTGGGTCAGCTGCAGTCGCCCGGGGCGGGCGTGGGG c.2160
Q F G G S L G G L G Q L Q S P G A G V G p.720
. . . . . . g.8175
CTCCCCAGCGCTGCTTCGGAGCGCCGGCCCCCGCCGCCGGACTTTGCTACGTCTGCGCTC c.2220
L P S A A S E R R P P P P D F A T S A L p.740
. . . . . . g.8235
GGGGGCCAGCCGGGCTTTCCGTTTGGTGCAGCCGGCCGGCAGTCCACGCCGCACAGCGGT c.2280
G G Q P G F P F G A A G R Q S T P H S G p.760
. . . . . . g.8295
CCAGGCGTGAACTCGCCCCCCAGCGCGGGAGGGGGCGGTGGCAGCTCTGGTGGCGGCGGT c.2340
P G V N S P P S A G G G G G S S G G G G p.780
. . . . . . g.8355
GGCGGGGGTGCCTACCCGCCGCAGCCTGATTTCCAGCCCAGCCAGCGCACCTCGGCCAGT c.2400
G G G A Y P P Q P D F Q P S Q R T S A S p.800
. . . . . . g.8415
AAATTGGGCGCGCTCTCGCTGGGCTCCTTCAACAAGCCCAGCTCCAAGGACAACCTGTTC c.2460
K L G A L S L G S F N K P S S K D N L F p.820
. . . . . . g.8475
GGCCAGAGCTGCCTGGCTGCGCTCTCCACCGCTTGCCAGAACATGATCGCCAGCCTCGGG c.2520
G Q S C L A A L S T A C Q N M I A S L G p.840
. . . . . . g.8535
GCCCCCAACCTCAACGTGACCTTCAACAAGAAGAACCCGCCAGAGGGCAAGAGGAAACTG c.2580
A P N L N V T F N K K N P P E G K R K L p.860
. . . . . . g.8595
AGCCAGAACGAGACCGACGGCGCGGCAGTGGCCGGCAACCCGGGCTCGGATTACTTCCCA c.2640
S Q N E T D G A A V A G N P G S D Y F P p.880
. . . . . . g.8655
GGAGGGACTGCTCCTGGGGCCCCAGGACCCGGAGGCCCGTCCGGGACCAGTAGCAGCGGC c.2700
G G T A P G A P G P G G P S G T S S S G p.900
. . . . . . g.8715
TCCAAAGCCTCGGGGCCGCCCAACCCTCCAGCCCAGGGGGACGGCACCAGCCTCTCCCCC c.2760
S K A S G P P N P P A Q G D G T S L S P p.920
. . . . . . g.8775
AACTACACCCTGGAATCCACGTCGGGGAATGACGGCAAGCCGGTCTCCGGGGGCGGCGGC c.2820
N Y T L E S T S G N D G K P V S G G G G p.940
. . . . . . g.8835
CGGGGACGGGGTCGCAGAAAAAGGGACAGTGGTCACGTGAGCCCTGGCACCTTCTTTGAC c.2880
R G R G R R K R D S G H V S P G T F F D p.960
. . . . . . g.8895
AAGTACTCGGCGGCTCCGGACAGCGGGGGCGCACCTGGGGTGAGCCCAGGGCAGCAGCAA c.2940
K Y S A A P D S G G A P G V S P G Q Q Q p.980
. . . . . . g.8955
GCGTCAGGCGCAGCCGTCGGGGGAAGCTCCGCAGGCGAGACGCGCGGGGCACCGACGCCC c.3000
A S G A A V G G S S A G E T R G A P T P p.1000
. . . . . . g.9015
CACGAAAAGGCGCTCACGTCGCCATCCTGGGGGAAGGGGGCTGAGTTGCTCCTGGGGGAT c.3060
H E K A L T S P S W G K G A E L L L G D p.1020
. . . . . . g.9075
CAGCCGGACCTCATTGGGTCCCTGGACGGCGGGGCCAAGTCGGACAGTAGTTCGCCAAAC c.3120
Q P D L I G S L D G G A K S D S S S P N p.1040
. . . . . . g.9135
GTGGGTGAGTTCGCCTCGGACGAGGTGAGCACGAGCTACGCCAATGAGGACGAGGTGTCG c.3180
V G E F A S D E V S T S Y A N E D E V S p.1060
. . . . . . g.9195
TCCAGCTCTGACAACCCCCAGGCACTAGTTAAAGCGAGCAGGAGTCCCCTGGTGACCGGC c.3240
S S S D N P Q A L V K A S R S P L V T G p.1080
. . . . . . g.9255
TCGCCCAAACTCCCTCCCCGTGGGGTAGGCGCCGGGGAACACGGACCGAAGGCGCCCCCG c.3300
S P K L P P R G V G A G E H G P K A P P p.1100
. . . . . . g.9315
CCCGCCCTCGGCCTGGGCATCATGTCTAACTCTACCTCGACCCCTGACAGCTACGGCGGC c.3360
P A L G L G I M S N S T S T P D S Y G G p.1120
. . . . . . g.9375
GGTGGGGGCCCGGGCCATCCGGGCACTCCGGGCCTGGAGCAGGTCCGCACCCCGACGAGC c.3420
G G G P G H P G T P G L E Q V R T P T S p.1140
. . . . . . g.9435
AGCAGCGGCGCCCCGCCACCCGACGAGATCCACCCCCTGGAGATCCTTCAGGCGCAGATC c.3480
S S G A P P P D E I H P L E I L Q A Q I p.1160
. . . . . . g.9495
CAGCTACAGAGGCAGCAGTTCAGCATCTCCGAGGACCAGCCTCTGGGGCTGAAGGGTGGC c.3540
Q L Q R Q Q F S I S E D Q P L G L K G G p.1180
. . . . . . g.9555
AAGAAGGGTGAGTGCGCCGTCGGGGCCTCAGGGGCGCAGAATGGCGACAGCGAGCTGGGC c.3600
K K G E C A V G A S G A Q N G D S E L G p.1200
. . . . . . g.9615
AGCTGCTGCTCCGAGGCGGTCAAGAGCGCCATGAGCACCATTGACCTGGACTCGCTGATG c.3660
S C C S E A V K S A M S T I D L D S L M p.1220
. . . . . . g.9675
GCAGAGCACAGCGCTGCCTGGTACATGCCCGCTGACAAGGCCCTGGTGGACAGCGCGGAC c.3720
A E H S A A W Y M P A D K A L V D S A D p.1240
. . . . . . g.9735
GACGACAAGACGTTGGCGCCCTGGGAGAAGGCCAAACCCCAGAACCCCAACAGCAAAGAA c.3780
D D K T L A P W E K A K P Q N P N S K E p.1260
| 02 . . . . . . g.55461
G | CCCACGACCTCCCTGCAAACAAGGCCTCAGCATCCCAGCCTGGCAGCCACTTGCAGTGC c.3840
A | H D L P A N K A S A S Q P G S H L Q C p.1280
. . . . . . g.55521
CTGTCTGTCCACTGCACAGACGACGTGGGTGACGCCAAGGCTCGAGCCTCCGTGCCCACC c.3900
L S V H C T D D V G D A K A R A S V P T p.1300
. . . . . . g.55581
TGGCGGTCCCTGCATTCTGACATCTCCAACAGATTTGGGACATTCGTGGCTGCCCTAACT c.3960
W R S L H S D I S N R F G T F V A A L T p.1320
g.55584
TGA c.3963
X p.1320
. . . . . . g.55644
atgacaagaaagatcccctcctctaccaggcccttcctctccccctgtctgtttccttcc c.*60
. . . . . . g.55704
ccctcaaccttaccccacccctctgttaatttgaaagggccactattgctgagtggatga c.*120
. . . . . . g.55764
gttttttttttttctctaggttggtacctgcttagtggcatatggaccggaaagggttaa c.*180
. . . . . . g.55824
tttaaagggggggaacctcaaaagtttttttaaaaaagaaacttgtctgccacagtatgt c.*240
. . . . . . g.55884
taccagtgttaacccttctgcagttagcaaacttttgcttaagcctttttcctctagata c.*300
. . . . . . g.55944
ctccccatgtttcggtaatcttggcatacattttttagatgacctctttccttgttttgt c.*360
. . . . . . g.56004
tttcatgctgctgtatgtccaagtattgttatttcataataagacaagagttgctttctt c.*420
. . . . . . g.56064
ttttattctttttccttttcttaccccctccccttttattttctttttgctttgttcact c.*480
. . . . . . g.56124
gcttattaaaatggaaatcctggagaatagtagttctggaatattgccgggtgaaagtcc c.*540
. . . . . . g.56184
aattgtcatcacaatgttatatattgacaccccagtgtcatcagtcaggcaggagccaaa c.*600
. . . . . . g.56244
caatgaatgcccctcttaggtattccgcctgggattttgttttgtctgttccctaagaaa c.*660
. . . . . . g.56304
atatattttcattcctgcaaacacagtgctcagccttcagttcccttccacttgagttct c.*720
. . . . . . g.56364
ctcttctcctgctggaagccgcccctctctgcgatggacgtgaggacgtgtccagctctg c.*780
. . . . . . g.56424
ctctgtgggaaggagttggaatgttcgacagcagtgttttctctccttttctgggcctcc c.*840
. . . . . . g.56484
tcgcaaatgcccaggccctgcattttcacgctgtgctaagcagcctttggtctgcatggg c.*900
. . . . . . g.56544
ggatggtgtgctcccagcctgcagtctttggagcaaggctgctgcccgtgccttgggtgc c.*960
. . . . . . g.56604
tggagttggaggaggctgttctcagccctttcccttttctgaaagctgttcctggccggg c.*1020
. . . . . . g.56664
catcccagggaagaaggaggggactgcgtgtatctcctccacctctcccattccatcccc c.*1080
. . . . . . g.56724
agtccagcctgggcaaccccacccctgggagggatgaggcaccctcttgctcagcctgct c.*1140
. . . . . . g.56784
cagccttctctgagcctttgcagggatctgcagactcctgagggctagaggacagagaaa c.*1200
. . . . . . g.56844
gagaatagaatgaaatgactttgattcctgcgccttttagttttgaactctggaattcct c.*1260
. . . . . . g.56904
ctgccccctccccaacatttttttggaatctcaccctgttgcaaaactagagccatgtcc c.*1320
. . . . . . g.56964
caagcatctcacaaaggaataactgctctgagcagagatgagtggtggttggcaggggca c.*1380
. . . . . . g.57024
ggcaactttgggtgctgctgatgcctgcaaaagccatttatggcttgtggtggggggcac c.*1440
. . . . . . g.57084
atagattccccggtgggttagacaggaagtaactgatatcacttcacccaaatatataac c.*1500
. . . . . . g.57144
cgtgatggttatctatttaatttcagtttttgttaacgagcgtgtcttactaaaacgctc c.*1560
. . . . . . g.57204
cactttgagctcccccaccccctccaggtcctcagagtttgcagatctgggctttctaaa c.*1620
. . . . . . g.57264
gcaagtgacctgaaggctctgggctcaccatacaacacccacgttgtttatttcaaagaa c.*1680
. . . . . . g.57324
cttttcagcgaagggagaggagctttcagaaaaacctcactctttcccctcccttctccc c.*1740
. . . . . . g.57384
ctctttccttctgccggtccttttggctggggtctgagtctgcggttctcgcctgggcag c.*1800
. . . . . . g.57444
tcttgacgaggagcaaaccccgccttcagagggcagacaaagcaggtggcatgaattgat c.*1860
. . . . . . g.57504
cagcgagaaaggtgtgagccgaggcagttcctgcgttctgctacaaaaggaatggaaagg c.*1920
. . . . . . g.57564
gaagggaatttccccccaccatgggctgtgggagagttgaccgtattctgggcaagactc c.*1980
. . . . . . g.57624
catgacccctctgattctgcagtgtacagctgtttgagagcctcatcattttacttttga c.*2040
. . . . . . g.57684
aacaggaatgatttctccttaattgcttaaggccggggagcaaagtgtcttaacttctgt c.*2100
. . . . . . g.57744
ctttgactttcccagcgttgagtcatcaacactttgccaattagctcatggtcctggcaa c.*2160
. . . . . . g.57804
cctcagaaacccctgaagttttaaaaactttctcgctccccacgaccccagaatgaaaca c.*2220
. . . . . . g.57864
gctttaaaaatagccttaagcaaaaggatgttatttcattaaatttggtttaatggaaag c.*2280
. . . . . . g.57924
aataaaagtaaatgaaaaacacaccctacacactagactccgaacactggtaatcagtac c.*2340
. . . . . . g.57984
tgcatagcaaactctttgggaaagaaaacgaaaatgttattgcacatgtaaaatatgaaa c.*2400
. . . . . . g.58044
acttaactctgctgtgtgttaggcaatcctgtaatcttttttgactcttaaaagaaattc c.*2460
. . . . . . g.58104
atttctgaaatgcttggttggaagactgtgacaatagctcatgaaattgagtgttatttt c.*2520
. . . . . . g.58164
tttctttcttttttaaaaaaatatgtaaagtgcagtcttctgtattcctgcatattgtat c.*2580
. . . . . g.58222
atacctgtatatgttttcctgagcagttaaataacaataaatatgacgttaatggtga c.*2638
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 22
©2004-2019 Leiden University Medical Center