(used for variant description)
(last modified January 22, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001396.3 in the DYRK1A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009366.1, covering DYRK1A transcript NM_001396.3.
(upstream sequence)
. g.57758
gttatagttttgccg c.-61
. . . . . . g.57818
ctggactcttccctcccttcccccaccccatcaggatgatatgagacttgaaagaagacg c.-1
. | 02 . . . . . g.110177
ATGCATACAG | GAGGAGAGACTTCAGCATGCAAACCTTCATCTGTTCGGCTTGCACCGTCA c.60
M H T G | G E T S A C K P S S V R L A P S p.20
. . . . . . g.110237
TTTTCATTCCATGCTGCTGGCCTTCAGATGGCTGGACAGATGCCCCATTCACATCAGTAC c.120
F S F H A A G L Q M A G Q M P H S H Q Y p.40
. . . . . . g.110297
AGTGACCGTCGCCAGCCAAACATAAGTGACCAACAGGTTTCTGCCTTATCATATTCTGAC c.180
S D R R Q P N I S D Q Q V S A L S Y S D p.60
. . | 03. . . . g.115657
CAGATTCAGCAACCTCTAACTAACCAG | GTGATGCCTGATATTGTCATGTTACAGAGGCGG c.240
Q I Q Q P L T N Q | V M P D I V M L Q R R p.80
. . . . . . g.115717
ATGCCCCAAACCTTCCGTGACCCAGCAACTGCTCCCCTGAGAAAACTTTCTGTTGACTTG c.300
M P Q T F R D P A T A P L R K L S V D L p.100
. . | 04. . . . g.118114
ATCAAAACATACAAGCATATTAATGAG | GTTTACTATGCAAAAAAGAAGCGAAGACACCAA c.360
I K T Y K H I N E | V Y Y A K K K R R H Q p.120
. . . . . . g.118174
CAGGGCCAGGGAGACGATTCTAGTCATAAGAAGGAACGGAAGGTTTACAATGATGGTTAT c.420
Q G Q G D D S S H K K E R K V Y N D G Y p.140
. . . . . . g.118234
GATGATGATAACTATGATTATATTGTAAAAAACGGAGAAAAGTGGATGGATCGTTACGAA c.480
D D D N Y D Y I V K N G E K W M D R Y E p.160
. . . | 05 . . . g.123934
ATTGACTCCTTGATAGGCAAAGGTTCCTTTGGACAG | GTTGTAAAGGCATATGATCGTGTG c.540
I D S L I G K G S F G Q | V V K A Y D R V p.180
. . . . . . g.123994
GAGCAAGAATGGGTTGCCATTAAAATAATAAAGAACAAGAAGGCTTTTCTGAATCAAGCA c.600
E Q E W V A I K I I K N K K A F L N Q A p.200
. . . . . . g.124054
CAGATAGAAGTGCGACTTCTTGAGCTCATGAACAAACATGACACTGAAATGAAATACTAC c.660
Q I E V R L L E L M N K H D T E M K Y Y p.220
| 06 . . . . . . g.127674
ATAG | TGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATG c.720
I V | H L K R H F M F R N H L C L V F E M p.240
. . . . . . g.127734
CTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAAC c.780
L S Y N L Y D L L R N T N F R G V S L N p.260
. . . . . . g.127794
CTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAA c.840
L T R K F A Q Q M C T A L L F L A T P E p.280
. . . . . . g.127854
CTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGC c.900
L S I I H C D L K P E N I L L C N P K R p.300
. . . . . | 07 . g.130469
AGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAGAGG | ATATACCAG c.960
S A I K I V D F G S S C Q L G Q R | I Y Q p.320
. . . . . . g.130529
TATATTCAGAGTCGCTTTTATCGGTCTCCAGAGGTGCTACTGGGAATGCCTTATGACCTT c.1020
Y I Q S R F Y R S P E V L L G M P Y D L p.340
. . . . . . g.130589
GCCATTGATATGTGGTCCCTCGGGTGTATTTTGGTTGAAATGCACACTGGAGAACCTCTG c.1080
A I D M W S L G C I L V E M H T G E P L p.360
. | 08 . . . . g.133603
TTCAGTGGTGCCAATGAG | GTAGATCAGATGAATAAAATAGTGGAAGTTCTGGGTATTCCA c.1140
F S G A N E | V D Q M N K I V E V L G I P p.380
. . . . . . g.133663
CCTGCTCATATTCTTGACCAAGCACCAAAAGCAAGAAAGTTCTTTGAGAAGTTGCCAGAT c.1200
P A H I L D Q A P K A R K F F E K L P D p.400
. . . | 09 . . g.142748
GGCACTTGGAACTTAAAGAAGACCAAAGATGGAAAACGG | GAGTACAAACCACCAGGAACC c.1260
G T W N L K K T K D G K R | E Y K P P G T p.420
. . . . . . g.142808
CGTAAACTTCATAACATTCTTGGAGTGGAAACAGGAGGACCTGGTGGGCGACGTGCTGGG c.1320
R K L H N I L G V E T G G P G G R R A G p.440
. . . . . . g.142868
GAGTCAGGTCATACGGTCGCTGACTACTTGAAGTTCAAAGACCTCATTTTAAGGATGCTT c.1380
E S G H T V A D Y L K F K D L I L R M L p.460
. . . . . . g.142928
GATTATGACCCCAAAACTCGAATTCAACCTTATTATGCTCTGCAGCACAGTTTCTTCAAG c.1440
D Y D P K T R I Q P Y Y A L Q H S F F K p.480
. . . . . . g.142988
AAAACAGCTGATGAAGGTACAAATACAAGTAATAGTGTATCTACAAGCCCCGCCATGGAG c.1500
K T A D E G T N T S N S V S T S P A M E p.500
. . . . | 10 . . g.143557
CAGTCTCAGTCTTCGGGCACCACCTCCAGTACATCGTCAAGCTCAG | GTGGCTCATCGGGG c.1560
Q S Q S S G T T S S T S S S S G | G S S G p.520
. . . . . . g.143617
ACAAGCAACAGTGGGAGAGCCCGGTCGGATCCGACGCACCAGCATCGGCACAGTGGTGGG c.1620
T S N S G R A R S D P T H Q H R H S G G p.540
. . . . . | 11 . g.149364
CACTTCACAGCTGCCGTGCAGGCCATGGACTGCGAGACACACAGTCCCCAG | GTGCGTCAG c.1680
H F T A A V Q A M D C E T H S P Q | V R Q p.560
. . . . . . g.149424
CAATTTCCTGCTCCTCTTGGTTGGTCAGGCACTGAAGCTCCTACACAGGTCACTGTTGAA c.1740
Q F P A P L G W S G T E A P T Q V T V E p.580
. . . . . . g.149484
ACTCATCCTGTTCAAGAAACAACCTTTCATGTAGCCCCTCAACAGAATGCATTGCATCAT c.1800
T H P V Q E T T F H V A P Q Q N A L H H p.600
. . . . . . g.149544
CACCATGGTAACAGTTCCCATCACCATCACCACCACCACCACCATCACCACCACCATGGA c.1860
H H G N S S H H H H H H H H H H H H H G p.620
. . . . . . g.149604
CAACAAGCCTTGGGTAACCGGACCAGGCCAAGGGTCTACAATTCTCCAACGAATAGCTCC c.1920
Q Q A L G N R T R P R V Y N S P T N S S p.640
. . . . . . g.149664
TCTACCCAAGATTCTATGGAGGTTGGCCACAGTCACCACTCCATGACATCCCTGTCTTCC c.1980
S T Q D S M E V G H S H H S M T S L S S p.660
. . . . . . g.149724
TCAACGACTTCTTCCTCGACATCTTCCTCCTCTACTGGTAACCAAGGCAATCAGGCCTAC c.2040
S T T S S S T S S S S T G N Q G N Q A Y p.680
. . . . . . g.149784
CAGAATCGCCCAGTGGCTGCTAATACCTTGGACTTTGGACAGAATGGAGCTATGGACGTT c.2100
Q N R P V A A N T L D F G Q N G A M D V p.700
. . . . . . g.149844
AATTTGACCGTCTACTCCAATCCCCGCCAAGAGACTGGCATAGCTGGACATCCAACATAC c.2160
N L T V Y S N P R Q E T G I A G H P T Y p.720
. . . . . . g.149904
CAATTTTCTGCTAATACAGGTCCTGCACATTACATGACTGAAGGACATCTGACAATGAGG c.2220
Q F S A N T G P A H Y M T E G H L T M R p.740
. . . . . . g.149964
CAAGGGGCTGATAGAGAAGAGTCCCCCATGACAGGAGTTTGTGTGCAACAGAGTCCTGTA c.2280
Q G A D R E E S P M T G V C V Q Q S P V p.760
. g.149976
GCTAGCTCGTGA c.2292
A S S X p.763
. . . . . . g.150036
ctacattgaaacttgagtttgtttcttgtgtgtttttatagaagtggtgttttttttcca c.*60
. . . . . . g.150096
aaaacaaagtgcaaagctgcttgaatcaggaggagattaacacactgaaccgctacaaga c.*120
. . . . . . g.150156
gggcaaagctgattttttttttaacttgaaaagattgcaaagggacattgaagtgtttaa c.*180
. . . . . . g.150216
aagagccatgtccaaacccatcttcatggatagctcagaggtatcctctttttgctcccc c.*240
. . . . . . g.150276
cattttaacttgccacatcccagtcacagtggggtttttttgtctttctattcagcaaaa c.*300
. . . . . . g.150336
gttaatattcagatgttggtcttggtcatttgccaactaattttaaagtaaaaggcactg c.*360
. . . . . . g.150396
cacataatttgcataaagggccccatgagggtgttttttttttttctttttgtccccccc c.*420
. . . . . . g.150456
atccccctttttttttgttttgttctgttttgttttgggtgggagggtgggaaatttggg c.*480
. . . . . . g.150516
tttttaagtcctctaaacacacttgggcacggaaatgcagtactgtaaggaagagggacc c.*540
. . . . . . g.150576
tccagcttccacaaacaccatcttcagctgtatgaaagggacggttgtggtgaagtttgt c.*600
. . . . . . g.150636
caggcacagtaagcatgctgagtggcggggatcagaactctcctatctgaacctactgag c.*660
. . . . . . g.150696
gagcaaagcagcaattacatgggatcctgtggctctcccgttgcagaggccacaggaaga c.*720
. . . . . . g.150756
taggatggaacgtgactggtctcctaaccaaggtgcactgagaagcaatcaacgggtcgg c.*780
. . . . . . g.150816
tcgtggccagtcctggggaggtctgagtggtggtctttgggataacctttggccttatgg c.*840
. . . . . . g.150876
atttggactcgaaattagaagagcctaccatttcagatgcaatcacttttggacatgctt c.*900
. . . . . . g.150936
ttgcagacagtccttaatgctgaaaacacagagaatgggtaattcaagaggcctttcttt c.*960
. . . . . . g.150996
taaaatagacttttgtgacccactaattgtaaggtattgcaaggtcactttgcgtgtgtc c.*1020
. . . . . . g.151056
ataaagttgacttccttattggttgaaggtcacagaagtagtggtttgctttgatggaaa c.*1080
. . . . . . g.151116
tagctacagctgtgtcccttcctgctttttactttttcttttgctttttctcggcacgtg c.*1140
. . . . . . g.151176
gtatctccaccatttcttctgcacaaagatgtcttctgttcatcctgaacatttttaaaa c.*1200
. . . . . . g.151236
aatgcagaattttatgtgactgcttttttgcctcacaattatgctgtgaattttacaaaa c.*1260
. . . . . . g.151296
atttattttcttttttgataatttattgtaccaaagctgtttttatagcacatagatgtc c.*1320
. . . . . . g.151356
tgtaaccaataatgtagcagttctgcactttgacacaaggtgtaactagaccatttttaa c.*1380
. . . . . . g.151416
atgtcagttgaaaattatggctgtactattgcttaaacaaaactggaactgttgttgaat c.*1440
. . . . . . g.151476
ccatagccaatacatttacagcaatctgtgtactgaacatagtagattgacatctaattc c.*1500
. . . . . . g.151536
aagattacaacatctgttacattctaagtgtgttcaggcttctgaaggtaaagggacact c.*1560
. . . . . . g.151596
ggatccagaagctatggaaccagcagttgattcttgtattcctgattaacctacttgtaa c.*1620
. . . . . . g.151656
acttgaaagcaagaccttgattgcaccaacaggtccagagtatgagtgcaagcaaagcag c.*1680
. . . . . . g.151716
aactctcatgcgtgacctgagcagacaggctggtatttaacaggtgcctcgtgttgagat c.*1740
. . . . . . g.151776
tacgctgccttaatgtaacacagtctggcagttgctaaatttgtgttcccattttaaatt c.*1800
. . . . . . g.151836
gaccaattttggggtgtgacacttttgagcggttgaattgggagaatgaagataagtaat c.*1860
. . . . . . g.151896
ttacctgtccaggatcaaaagaagcctagaaaagaagcagtaatctacctctgccgataa c.*1920
. . . . . . g.151956
cctgtttaagatgactcagcagaacaccgcgtttcattctattggtcaattccatgtggc c.*1980
. . . . . . g.152016
tgactaggtcaattttttttctgaacaaaagcaggtttttatatgtaaacagtgagaaaa c.*2040
. . . . . . g.152076
gaaaggctaaacactatgtaaatgtgaatggaaacttggaaatactcgtttttataaact c.*2100
. . . . . . g.152136
acaaaaactttttgttgtttatcaggaaatccatatttattttgtaattaactgtcaagc c.*2160
. . . . . . g.152196
ctgtggatgatttttttgaacttggtagttcataaaggtttacagtgaataaaaggatat c.*2220
. . . . . . g.152256
catcttgagtatagcaatatcaaaaggaattcagtagttactgctgtttaggaatataag c.*2280
. . . . . . g.152316
gttaagatatcatatgggtcaggtcattttttttttctgtgctggttgccacatcttagc c.*2340
. . . . . . g.152376
aagcaccaaaaaactaaagcagtttttaaaccgatatttacgtaaagaaaatcataaaat c.*2400
. . . . . . g.152436
ccaatgcttctgcatactgtgttatgttacagtccagttttgtgtgctttactacacagt c.*2460
. . . . . . g.152496
ttggttacaggacttctgtgcattgtaaacataaacagcatggaaaaggttaaatacctg c.*2520
. . . . . . g.152556
tgttcagattgtaagatctagtccggacttgctgtgtatattgtaacgttaaatgaaaaa c.*2580
. . . . . . g.152616
agaacccccctttgtattatagtcatgcggtcttatgtatgataaacagttgaataattt c.*2640
. . . . . . g.152676
gtcctcagactctttactatgcttttttaaaaattaatttaagaaaaatgtaaacatagt c.*2700
. . . . . . g.152736
aaaaatcttcctatgcaattaaactggtccaggtctggtaggtatagtatcaaagttgag c.*2760
. . . . . . g.152796
ttaaatgtgtaaaaaggaaactatttgagatacattgacataggcatcagcaatctctga c.*2820
. . g.152821
aagtaaaaattggaggtttaacaga c.*2845
(downstream sequence)
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