(used for variant description)
(last modified March 24, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_016816.2 in the OAS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011530.2, covering OAS1 transcript NM_016816.2.
(upstream sequence)
. . . . g.5046
tcccttctgaggaaacgaaaccaacagcagtccaagctcagtcagc c.-61
. . . . . . g.5106
agaagagataaaagcaaacaggtctgggaggcagttctgttgccactctctctcctgtca c.-1
. . . . . . g.5166
ATGATGGATCTCAGAAATACCCCAGCCAAATCTCTGGACAAGTTCATTGAAGACTATCTC c.60
M M D L R N T P A K S L D K F I E D Y L p.20
. . . . . . g.5226
TTGCCAGACACGTGTTTCCGCATGCAAATCAACCATGCCATTGACATCATCTGTGGGTTC c.120
L P D T C F R M Q I N H A I D I I C G F p.40
. . . . . . g.5286
CTGAAGGAAAGGTGCTTCCGAGGTAGCTCCTACCCTGTGTGTGTGTCCAAGGTGGTAAAG c.180
L K E R C F R G S S Y P V C V S K V V K p.60
| 02 . . . . . . g.6662
| GGTGGCTCCTCAGGCAAGGGCACCACCCTCAGAGGCCGATCTGACGCTGACCTGGTTGTC c.240
| G G S S G K G T T L R G R S D A D L V V p.80
. . . . . . g.6722
TTCCTCAGTCCTCTCACCACTTTTCAGGATCAGTTAAATCGCCGGGGAGAGTTCATCCAG c.300
F L S P L T T F Q D Q L N R R G E F I Q p.100
. . . . . . g.6782
GAAATTAGGAGACAGCTGGAAGCCTGTCAAAGAGAGAGAGCATTTTCCGTGAAGTTTGAG c.360
E I R R Q L E A C Q R E R A F S V K F E p.120
. . . . . . g.6842
GTCCAGGCTCCACGCTGGGGCAACCCCCGTGCGCTCAGCTTCGTACTGAGTTCGCTCCAG c.420
V Q A P R W G N P R A L S F V L S S L Q p.140
. . . . | 03 . g.9128
CTCGGGGAGGGGGTGGAGTTCGATGTGCTGCCTGCCTTTGATGCCCTGG | GTCAGTTGACT c.480
L G E G V E F D V L P A F D A L G | Q L T p.160
. . . . . . g.9188
GGCGGCTATAAACCTAACCCCCAAATCTATGTCAAGCTCATCGAGGAGTGCACCGACCTG c.540
G G Y K P N P Q I Y V K L I E E C T D L p.180
. . . . . . g.9248
CAGAAAGAGGGCGAGTTCTCCACCTGCTTCACAGAACTACAGAGAGACTTCCTGAAGCAG c.600
Q K E G E F S T C F T E L Q R D F L K Q p.200
. . . . . | 04 . g.14581
CGCCCCACCAAGCTCAAGAGCCTCATCCGCCTAGTCAAGCACTGGTACCAAAAT | TGTAAG c.660
R P T K L K S L I R L V K H W Y Q N | C K p.220
. . . . . . g.14641
AAGAAGCTTGGGAAGCTGCCACCTCAGTATGCCCTGGAGCTCCTGACGGTCTATGCTTGG c.720
K K L G K L P P Q Y A L E L L T V Y A W p.240
. . . . . . g.14701
GAGCGAGGGAGCATGAAAACACATTTCAACACAGCCCAGGGATTTCGGACGGTCTTGGAA c.780
E R G S M K T H F N T A Q G F R T V L E p.260
. . . . . . g.14761
TTAGTCATAAACTACCAGCAACTCTGCATCTACTGGACAAAGTATTATGACTTTAAAAAC c.840
L V I N Y Q Q L C I Y W T K Y Y D F K N p.280
. . . . | 05 . . g.15629
CCCATTATTGAAAAGTACCTGAGAAGGCAGCTCACGAAACCCAG | GCCTGTGATCCTGGAC c.900
P I I E K Y L R R Q L T K P R | P V I L D p.300
. . . . . . g.15689
CCGGCGGACCCTACAGGAAACTTGGGTGGTGGAGACCCAAAGGGTTGGAGGCAGCTGGCA c.960
P A D P T G N L G G G D P K G W R Q L A p.320
. . . . . . g.15749
CAAGAGGCTGAGGCCTGGCTGAATTACCCATGCTTTAAGAATTGGGATGGGTCCCCAGTG c.1020
Q E A E A W L N Y P C F K N W D G S P V p.340
. | 06 . . . . g.17497
AGCTCCTGGATTCTGCTG | GCTGAAAGCAACAGTGCAGACGATGAGACCGACGATCCCAGG c.1080
S S W I L L | A E S N S A D D E T D D P R p.360
. . . . . . g.17557
AGGTATCAGAAATATGGTTACATTGGAACACATGAGTACCCTCATTTCTCTCATAGACCC c.1140
R Y Q K Y G Y I G T H E Y P H F S H R P p.380
. . . . . . g.17617
AGCACACTCCAGGCAGCATCCACCCCACAGGCAGAAGAGGACTGGACCTGCACCATCCTC c.1200
S T L Q A A S T P Q A E E D W T C T I L p.400
g.17620
TGA c.1203
X p.400
. . . . . . g.17680
atgccagtgcatcttgggggaaagggctccagtgttatctggaccagttccttcattttc c.*60
. . . . . . g.17740
aggtgggactcttgatccagagaggacaaagctcctcagtgagctggtgtataatccagg c.*120
. . . . . . g.17800
acagaacccaggtctcctgactcctggccttctatgccctctatcctatcatagataaca c.*180
. . . . . . g.17860
ttctccacagcctcacttcattccacctattctctgaaaatattccctgagagagaacag c.*240
. . . . . . g.17920
agagatttagataagagaatgaaattccagccttgactttcttctgtgcacctgatggga c.*300
. . . . . g.17974
gggtaatgtctaatgtattatcaataacaataaaaataaagcaaataccattta c.*354
(downstream sequence)
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