(used for variant description)
(last modified March 14, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_017613.3 in the DONSON gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000021.8, covering DONSON transcript NM_017613.3.
(upstream sequence)
g.5007
aggggcg c.-61
. . . . . . g.5067
ggcccggcgcgcgcgggaagtctctgtagggcggccggctaccctcagccgccgcgcgtc c.-1
. . . . . . g.5127
ATGGCCCTTTCGGTGCCCGGCTACTCACCGGGCTTCCGAAAGCCGCCCGAGGTAGTGCGG c.60
M A L S V P G Y S P G F R K P P E V V R p.20
. . . . . . g.5187
CTCCGACGGAAAAGGGCCCGGAGCCGTGGAGCTGCCGCCTCCCCGCCCCGTGAGCTGACG c.120
L R R K R A R S R G A A A S P P R E L T p.40
. . . . . . g.5247
GAGCCGGCGGCCCGCCGAGCCGCCCTGGTGGCGGGGCTGCCTCTTCGCCCTTTCCCTGCT c.180
E P A A R R A A L V A G L P L R P F P A p.60
. . . . . . g.5307
GCGGGGGGCAGAGGCGGTGGCAGCGGCGGCGGCCCGGCCGCTGCTCGGAGGAACCCCTTC c.240
A G G R G G G S G G G P A A A R R N P F p.80
. . . . . . g.5367
GCCCGCCTGGACAACCGACCGCGGGTCGCCGCGGAGCCCCCCGACGGGCCGGCCCGCGAG c.300
A R L D N R P R V A A E P P D G P A R E p.100
. . | 02 . . . . g.6145
CAGCCGGAGGCCCCGGTCCCG | TTTTTAGATTCTAATCAAGAAAATGATTTGCTATGGGAA c.360
Q P E A P V P | F L D S N Q E N D L L W E p.120
. . . . | 03 . . g.7545
GAGAAGTTTCCTGAAAGAACAACTGTTACTGAATTACCTCAG | ACTTCACATGTATCATTC c.420
E K F P E R T T V T E L P Q | T S H V S F p.140
. . . . . . g.7605
TCCGAGCCTGATATTCCGTCCTCAAAAAGTACTGAGTTACCTGTGGACTGGAGTATTAAA c.480
S E P D I P S S K S T E L P V D W S I K p.160
. . . . . . g.7665
ACGCGACTCCTTTTCACCTCTTCTCAACCCTTTACCTGGGCAGATCATTTGAAAGCACAG c.540
T R L L F T S S Q P F T W A D H L K A Q p.180
. . . . . . g.7725
GAAGAAGCTCAAGGTCTTGTCCAGCATTGTAGGGCAACAGAAGTTACTTTGCCTAAAAGT c.600
E E A Q G L V Q H C R A T E V T L P K S p.200
| 04 . . . . . . g.8994
ATACAG | GATCCCAAACTCTCCTCTGAGCTCCGTTGTACCTTCCAGCAGAGCCTTATCTAT c.660
I Q | D P K L S S E L R C T F Q Q S L I Y p.220
. . . . . . g.9054
TGGCTCCACCCTGCTTTGTCTTGGCTACCACTGTTCCCTCGTATTGGAGCTGATAGAAAA c.720
W L H P A L S W L P L F P R I G A D R K p.240
. . . . . . g.9114
ATGGCTGGAAAGACAAGTCCTTGGTCAAATGATGCAACCCTGCAGCATGTTTTAATGAGT c.780
M A G K T S P W S N D A T L Q H V L M S p.260
| 05 . . . . . . g.10097
GACTG | GTCTGTGAGCTTTACTTCTCTATATAATTTGCTGAAGACAAAACTTTGCCCCTAT c.840
D W | S V S F T S L Y N L L K T K L C P Y p.280
. . . . . . g.10157
TTCTACGTTTGTACCTATCAGTTTACTGTCCTGTTCCGAGCAGCAGGATTAGCTGGAAGT c.900
F Y V C T Y Q F T V L F R A A G L A G S p.300
. . . . . . g.10217
GACTTAATCACAGCTCTCATATCTCCAACAACTCGAGGTTTAAGAGAAGCTATGAGAAAT c.960
D L I T A L I S P T T R G L R E A M R N p.320
| 06 . . . . . . g.11518
GAAG | GTATTGAATTTTCTCTGCCTTTAATAAAAGAAAGTGGCCATAAGAAGGAGACAGCA c.1020
E G | I E F S L P L I K E S G H K K E T A p.340
. . | 07 . . . . g.11687
TCTGGAACAAGCTTGGGATATGGGGA | GGAGCAAGCCATCAGTGATGAGGATGAAGAGGAA c.1080
S G T S L G Y G E | E Q A I S D E D E E E p.360
. . . . . . g.11747
AGTTTTTCCTGGCTGGAAGAGATGGGTGTGCAAGATAAAATTAAAAAGCCAGACATACTT c.1140
S F S W L E E M G V Q D K I K K P D I L p.380
. | 08 . . . . . g.12257
TCTATCAAGCT | GCGTAAAGAGAAACATGAAGTACAAATGGATCACAGACCTGAATCTGTT c.1200
S I K L | R K E K H E V Q M D H R P E S V p.400
. . . . . . g.12317
GTGTTGGTAAAAGGAATCAACACCTTTACATTGCTCAATTTTTTGATTAACTCTAAGAGT c.1260
V L V K G I N T F T L L N F L I N S K S p.420
. . . . . . g.12377
TTAGTTGCTACCTCAGGTCCACAGGCAGGACTTCCTCCAACCCTCTTGTCCCCTGTTGCT c.1320
L V A T S G P Q A G L P P T L L S P V A p.440
. . . | 09 . . . g.14176
TTCCGAGGTGCCACAATGCAAATGCTTAAG | GCACGGAGTGTGAATGTGAAGACACAAGCT c.1380
F R G A T M Q M L K | A R S V N V K T Q A p.460
. . . . . . g.14236
CTTTCTGGATACAGAGACCAATTTAGTTTGGAGATTACAGGTCCTATCATGCCTCATTCT c.1440
L S G Y R D Q F S L E I T G P I M P H S p.480
. . . . . . g.14296
CTGCATTCACTGACCATGCTGCTCAAATCTTCACAGAGTGGATCTTTCTCTGCAGTACTG c.1500
L H S L T M L L K S S Q S G S F S A V L p.500
. . . . . . g.14356
TATCCACACGAGCCAACTGCTGTATTTAACATCTGCCTGCAAATGGACAAAGTACTTGAT c.1560
Y P H E P T A V F N I C L Q M D K V L D p.520
| 10 . . . . . . g.15321
ATG | GAGGTTGTTCATAAGGAGCTTACTAACTGTGGTTTGCACCCTAACACTCTGGAGCAA c.1620
M | E V V H K E L T N C G L H P N T L E Q p.540
. . . . . . g.15381
CTTAGTCAAATACCGTTACTTGGGAAATCATCTTTACGGAATGTGGTGCTGAGAGACTAC c.1680
L S Q I P L L G K S S L R N V V L R D Y p.560
. . g.15402
ATTTATAATTGGAGATCCTGA c.1701
I Y N W R S X p.566
. . . . . . g.15462
acaccaaagtaagcctaaaaggaatctttgaggaaaaaagccttctagcaaggaaattca c.*60
. . . . . . g.15522
agattcttgaagttgaaggaatatactgaaatgtttataaacataacttttactacagta c.*120
. . . . . . g.15582
gcatctaaggttttaaatgtgttttactattttcagattagatttttagatataaagatg c.*180
. . . . . . g.15642
aaaaactcagataactcaaatgagatatctatatccctacaacctaattgtatattgagc c.*240
. . . . . . g.15702
agaaactgaattaatatgcttccttgcaaatgggaaatcacatagcagttaccccatggc c.*300
. . . . . . g.15762
attgtgactaatggcatcagggcaaaaatatgttactttacgatttacctgttagcaggt c.*360
. . . . . . g.15822
tcttgtttcataaaggtagaaaataaatacagacaacatctactgagctagttgattggt c.*420
. . . . . . g.15882
gatgcttctaccttaatatctttcctactgatttataattcctttattttcacatatact c.*480
. . . . . . g.15942
aaaactttttaaatgcatgttaattcagataaaaaggcattttgtattccacatagaata c.*540
. . . . . . g.16002
gtgttaagaattgtgaagtacactgagctgtcacggcaaagtagtatttaatgtgcttat c.*600
. . . . . . g.16062
aggggtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgt c.*660
. . . . . . g.16122
gtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtagggggggactgtataat c.*720
. . . g.16158
tcacatttttaaaataaaagtgcttaaaaatcaaaa c.*756
(downstream sequence)
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