(used for variant description)
(last modified March 2, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_014028.3 in the OSTM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007262.1, covering OSTM1 transcript NM_014028.3.
(upstream sequence)
. . g.5026
gcggaaaccggaagcggcggctgtcc c.-61
. . . . . . g.5086
gcggtgccggctgggggcggagaggcggcggtgggctccctggggtgtgtgagcccggtg c.-1
. . . . . . g.5146
ATGGAGCCGGGCCCGACAGCCGCGCAGCGGAGGTGTTCGTTGCCGCCGTGGCTGCCGCTG c.60
M E P G P T A A Q R R C S L P P W L P L p.20
. . . . . . g.5206
GGGCTGCTGCTGTGGTCGGGGCTGGCCCTGGGCGCGCTCCCCTTCGGCAGCAGTCCGCAC c.120
G L L L W S G L A L G A L P F G S S P H p.40
. . . . . . g.5266
AGGGTCTTCCACGACCTCCTGTCGGAGCAGCAGTTGCTGGAGGTGGAGGACTTGTCCCTG c.180
R V F H D L L S E Q Q L L E V E D L S L p.60
. . . . . . g.5326
TCCCTCCTGCAGGGTGGAGGGCTGGGGCCTCTGTCGCTGCCCCCGGACCTGCCGGATCTG c.240
S L L Q G G G L G P L S L P P D L P D L p.80
. . . . . . g.5386
GATCCTGAGTGCCGGGAGCTCCTGCTGGACTTCGCCAACAGCAGCGCAGAGCTGACAGGG c.300
D P E C R E L L L D F A N S S A E L T G p.100
. . . . . . g.5446
TGTCTGGTGCGCAGCGCCCGGCCCGTGCGCCTCTGTCAGACCTGCTACCCCCTCTTCCAA c.360
C L V R S A R P V R L C Q T C Y P L F Q p.120
. . . . | 02 . . g.15456
CAGGTCGTCAGCAAGATGGACAACATCAGCCGAGCCGCGGGG | AATACTTCAGAGAGTCAG c.420
Q V V S K M D N I S R A A G | N T S E S Q p.140
. . . . . . g.15516
AGTTGTGCCAGAAGTCTCTTAATGGCAGATAGAATGCAAATAGTTGTGATTCTCTCAGAA c.480
S C A R S L L M A D R M Q I V V I L S E p.160
. . . | 03. . . g.25173
TTTTTTAATACCACATGGCAGGAGGCAAATTGTGCAA | ATTGTTTAACAAACAACAGTGAA c.540
F F N T T W Q E A N C A N | C L T N N S E p.180
. . . . . . g.25233
GAATTATCAAACAGCACAGTATATTTCCTTAATCTATTTAATCACACCCTGACCTGCTTT c.600
E L S N S T V Y F L N L F N H T L T C F p.200
. | 04 . . . . . g.28584
GAACATAACCTTCAG | GGGAATGCACATAGTCTTTTACAGACAAAAAATTATTCAGAAGTA c.660
E H N L Q | G N A H S L L Q T K N Y S E V p.220
. . . . . . g.28644
TGCAAAAACTGCCGTGAAGCATACAAAACTCTGAGTAGTCTGTACAGTGAAATGCAAAAA c.720
C K N C R E A Y K T L S S L Y S E M Q K p.240
. . . . . . g.28704
ATGAATGAACTTGAGAATAAGGCTGAACCTGGAACACATTTATGCATTGATGTGGAAGAT c.780
M N E L E N K A E P G T H L C I D V E D p.260
| 05 . . . . . . g.30376
GCA | ATGAACATCACTCGAAAACTATGGAGTCGAACTTTCAACTGTTCAGTCCCTTGCAGT c.840
A | M N I T R K L W S R T F N C S V P C S p.280
. . . . . . g.30436
GACACAGTGCCTGTAATTGCTGTTTCTGTGTTCATTCTCTTTCTACCTGTTGTCTTCTAC c.900
D T V P V I A V S V F I L F L P V V F Y p.300
. . . . | 06 . g.34908
CTTAGTAGCTTTCTTCACTCAGAGCAAAAGAAACGCAAACTCATTCTGC | CCAAACGTCTC c.960
L S S F L H S E Q K K R K L I L P | K R L p.320
. . . . g.34953
AAGTCCAGTACCAGTTTTGCAAATATTCAGGAAAATTCAAACTGA c.1005
K S S T S F A N I Q E N S N X p.334
. . . . . . g.35013
gacctacaaaatggagaattgacatatcacgtgaatgaatggtggaagacacaacttggt c.*60
. . . . . . g.35073
ttcagaaagaagataaactgtgatttgacaagtcaagctcttaagaaatacaaggacttc c.*120
. . . . . . g.35133
agatccatttttaaataagaattttcgatttttctttccttttccacttctttctaacag c.*180
. . . . . . g.35193
atttggatatttttaatttccaggcatagcaatgttatctattttaatgtgtatttgtca c.*240
. . . . . . g.35253
caataacagaacatgcaagaacaatcattattttattttataggcatttgattactattc c.*300
. . . . . . g.35313
tagacttctggtatcttcttactaacataaatatctcaagtagaaaagtttttgaaaact c.*360
. . . . . . g.35373
aacatttaaaaattaatcagttacagtaaagactttgaaaaagaaatgtacttgttagga c.*420
. . . . . . g.35433
agtagcttaattaccccccattgcagtattattgttatatatatagttaatatgttgtac c.*480
. . . . . . g.35493
atcacaataatatataattcagtctctagtttccctagagtcatttttgaaaccactgat c.*540
. . . . . . g.35553
tgcaaacctccctgacaatttttaaaagtagtaagccacattacatttatctttgtaaaa c.*600
. . . . . . g.35613
agatttatggtaactggtttcttacttgacttttataaatagtattttacatcttatttt c.*660
. . . . . . g.35673
tgcctttatttcataagtaatttaaaaatcactggattgctttattatattcagggcaat c.*720
. . . . . . g.35733
atggattatttttataccaaggatttgcatcgtgaattacattaagttatttggcaattt c.*780
. . . . . . g.35793
ataatttattactactttaaatcaaatgtagcattatcacactgtatttaaattgtcatt c.*840
. . . . . . g.35853
ttttaaaggaatattttcttcttaagatatatagaggattttggagaagagagacaggag c.*900
. . . . . . g.35913
gggtaaaaccagcttaaggttcagcgagcagaaagggacctgagaggatgctcactgtaa c.*960
. . . . . . g.35973
gactgttggacagtggtgtgtattgaggggatgaatcggaacgatagtctcatgcagaaa c.*1020
. . . . . . g.36033
atagtgagattaagatcatccttattgtttctaaattatttcaatcagatgaaagtgata c.*1080
. . . . . . g.36093
cgattgaaatgaaatcacatagttcgtgctcagaaattctattttggtatgtttgtatta c.*1140
. . . . . . g.36153
gcctttagaaaaaacactccgtttcagaattgttcacagttttatttcttaggtttttag c.*1200
. . . . . . g.36213
agttcaggatttcatttattaatttcttcttgcttttttggtggaaataggctttgttgt c.*1260
. . . . . . g.36273
aaacattaagaatataaaatctcctctatatagaaacaagaattttgttaaaaagagaat c.*1320
. . . . . . g.36333
ttgaatcccttcctatactataaaatgctctatagggagacaaagtgtttcttttttctt c.*1380
. . . . . . g.36393
ttatgtttactgtttatgtggagtgaaatataaggctcttggatgtataacatactcaaa c.*1440
. . . . . . g.36453
agctgttacactttctctgatctgctgtgatccactgaaaatgtgctggggtttgttctg c.*1500
. . . . . . g.36513
ctgtcactgtttatgctgctggaacttagcactgtcttgatttgaagcatatgattgaga c.*1560
. . . . . . g.36573
gccatttgaagcaatcttcattaatgcagataaaacaagtttacatgtgcagagttagaa c.*1620
. . . . . . g.36633
aatgacatgttcaattctgtaagtggtgactttttgagcacctttcagtattatgtattt c.*1680
. . . . . . g.36693
gtaaaaaccattgtttttggatataaagctaataagcactttaaaaaggaaaaggcagcc c.*1740
. . . . . . g.36753
tttactattttttctggttgagtcattgctctttagacctagcatcagcaatagatttca c.*1800
. . . . . . g.36813
aagataagtattaagcgctaccctaaagtgtgtaagtttttcattttgtcatattgaaaa c.*1860
. . . . . . g.36873
atgatttgcatagtactgaatgttgacacacagcttatatgtatttacaagaatatcttt c.*1920
. . . . . . g.36933
aagtgtttttttgacacattaaaataaaggaaataaggaaattgtaagctttatttggat c.*1980
. . . . . . g.36993
ttttaaatacatttttaaaatttcagatgtaatttaacatcacatttgtttttcaggtat c.*2040
. . . . . . g.37053
tgagtttagatgcctacttttatgagtaccatcagctggacacagtgtctcatacctgta c.*2100
. . . . . . g.37113
tttgcagcactttgggaggctgaagcagatcgctggagcttatgagttcgagaccagcct c.*2160
. . . . . . g.37173
ggacaacatagtgaaacactgtctctgcaaaaaatacaaaaattagctgggtatggtggt c.*2220
. . . . . . g.37233
aagtgcctgtagtcctagctacttgggaggctgagatgggaggatgtcttgagcccggga c.*2280
. . . . . . g.37293
ggtggaggttgcaatgagccaagattgtaccactgcattccaacctgggcgacagagcca c.*2340
. . . . . . g.37353
gaccttgtctcaaaaaaaaaaaaaaaaaaagaaaaaagaaagtactgtctgtcttaaatt c.*2400
. . . . . . g.37413
ttgctgcaaataaaaatgtactttggattatttattgttgaacttgagagatagaaataa c.*2460
. . . . . . g.37473
catcagatatattttttcttttttttttataattaattttttttttttttttttttgtag c.*2520
. . . . . . g.37533
agacagtgtctcactatgttgcccaagctggtcttgaactcctgagttcaagagatcctc c.*2580
. . . . . . g.37593
ctgccttagcctcccaaagtgctgggattacaagcataagcaccacacctggctgaacat c.*2640
. . . . . . g.37653
cagatattttaaagtgtagcccagagtctagttggtaaatgttacttatattgggactag c.*2700
. . . . . . g.37713
tattttctaatgtttctgggatatgctccctataaaatgaaatgttttcctggaacaatg c.*2760
. . . . . . g.37773
ctaattaggattgcattcctggccaaagacatgacatcaaataagtaatagacatcacca c.*2820
. . . . . . g.37833
gcaatgaattttgaaaagcaaaaaatactattaacctatataaccatttaaaatttaaaa c.*2880
. . . . . . g.37893
aattatgttccaagtacctctattttctgagctagaagaaaccttagaggccatctgatg c.*2940
. . . . . . g.37953
atagattcccagagctggatggatccctagggactacctaatctgactttctgtccactg c.*3000
. . . . . . g.38013
catggattcttctaaaaagtatgtcacttatttccctaccttattaagactaaataagtg c.*3060
. . . . . . g.38073
gaacatcatagagctctttatttataacagtcattctttgatagtcaactcttaaatgga c.*3120
. . . . . . g.38133
gacttgagatgcttaaatattgtactactgtgcttatcttgtaaagatttcataaaatga c.*3180
. . . . . . g.38193
tagtattggttattttaaaaaggctttggcttatgctgaattatacatgtagcaccaaaa c.*3240
. . . . . . g.38253
tgttacaactctactaaatttccttgttctaaactattatattagctataataaatatta c.*3300
. . . . . . g.38313
gtcatacatgtaacatgtttaatgacaaataactttctttatctccttggaattaaagag c.*3360
. g.38329
ggcttttaaaagataa c.*3376
(downstream sequence)
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