(used for variant description)
(last modified June 29, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_138417.2 in the KTI12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering KTI12 transcript NM_138417.2.
(upstream sequence)
. . . g.5039
ttggcgcagcgcggttgccaatggtcgctccctgagagg c.-1
. . . . . . g.5099
ATGCCGCTCGTGGTGTTTTGCGGGCTGCCGTACAGCGGCAAGAGCCGGCGTGCTGAAGAG c.60
M P L V V F C G L P Y S G K S R R A E E p.20
. . . . . . g.5159
TTGCGCGTGGCGCTGGCTGCCGAGGGCCGCGCGGTGTACGTGGTGGACGACGCAGCTGTC c.120
L R V A L A A E G R A V Y V V D D A A V p.40
. . . . . . g.5219
CTGGGCGCAGAGGACCCAGCGGTGTACGGCGATTCTGCCCGTGAGAAGGCATTGCGTGGA c.180
L G A E D P A V Y G D S A R E K A L R G p.60
. . . . . . g.5279
GCTCTGCGAGCCTCCGTGGAACGGCGCCTGAGTCGCCACGACGTGGTCATCCTGGACTCG c.240
A L R A S V E R R L S R H D V V I L D S p.80
. . . . . . g.5339
CTTAACTACATCAAAGGTTTCCGTTACGAGCTCTACTGCCTGGCACGGGCGGCGCGCACC c.300
L N Y I K G F R Y E L Y C L A R A A R T p.100
. . . . . . g.5399
CCGCTCTGCCTGGTCTACTGCGTACGGCCCGGCGGCCCGATCGCGGGACCTCAGGTGGCG c.360
P L C L V Y C V R P G G P I A G P Q V A p.120
. . . . . . g.5459
GGCGCGAACGAGAACCCTGGCCGGAACGTCAGTGTGAGTTGGCGGCCACGCGCTGAGGAG c.420
G A N E N P G R N V S V S W R P R A E E p.140
. . . . . . g.5519
GACGGGAGAGCCCAGGCGGCGGGCAGCAGCGTCCTCAGGGAACTGCATACTGCGGACTCT c.480
D G R A Q A A G S S V L R E L H T A D S p.160
. . . . . . g.5579
GTAGTAAATGGAAGTGCCCAGGCCGACGTACCCAAGGAACTGGAGCGAGAAGAATCCGGG c.540
V V N G S A Q A D V P K E L E R E E S G p.180
. . . . . . g.5639
GCTGCGGAGTCTCCAGCTCTTGTGACTCCGGATTCAGAGAAATCTGCAAAGCATGGGTCC c.600
A A E S P A L V T P D S E K S A K H G S p.200
. . . . . . g.5699
GGTGCCTTTTACTCTCCCGAACTCCTGGAGGCCCTAACGCTGCGCTTTGAGGCTCCCGAT c.660
G A F Y S P E L L E A L T L R F E A P D p.220
. . . . . . g.5759
TCTCGGAATCGCTGGGACCGGCCTTTATTCACTTTGGTGGGCCTAGAGGAGCCGTTGCCC c.720
S R N R W D R P L F T L V G L E E P L P p.240
. . . . . . g.5819
CTGGCGGGGATCCGCTCTGCCCTGTTTGAGAACCGGGCCCCACCACCCCATCAGTCTACG c.780
L A G I R S A L F E N R A P P P H Q S T p.260
. . . . . . g.5879
CAGTCCCAGCCCCTCGCCTCCGGCAGCTTTCTGCACCAGTTGGACCAGGTCACGAGTCAA c.840
Q S Q P L A S G S F L H Q L D Q V T S Q p.280
. . . . . . g.5939
GTACTGGCCGGATTGATGGAAGCGCAGAAGAGCGCTGTCCCCGGGGACTTGCTCACGCTT c.900
V L A G L M E A Q K S A V P G D L L T L p.300
. . . . . . g.5999
CCTGGTACCACAGAGCACTTGCGGTTTACCCGGCCCTTGACCATGGCAGAACTGAGTCGC c.960
P G T T E H L R F T R P L T M A E L S R p.320
. . . . . . g.6059
CTTCGTCGCCAGTTTATTTCGTACACTAAAATGCATCCCAACAATGAGAACTTGCCGCAA c.1020
L R R Q F I S Y T K M H P N N E N L P Q p.340
. . . . g.6104
CTGGCCAACATGTTTCTTCAGTATTTGAGCCAGAGCCTGCACTGA c.1065
L A N M F L Q Y L S Q S L H X p.354
. . . . . . g.6164
ccagaggaggtaggggggaagccatggcttctgatctccactccactttatttctctggg c.*60
. . . . . . g.6224
aaaaataggctgcaggtctccagagcatatcgatgcagtactgtactagagctgttgtga c.*120
. . . . . . g.6284
ctgattcactcaaactttcctgcatacccctgtgccaggccttgggtttacagcataagt c.*180
. . . . . . g.6344
tcagactaaagagaatggagaactattgtggtgcaacctggcaaatccctcagaggacag c.*240
. . . . . . g.6404
agctaaggtggacagggattacctagattggatcctacttgggctatcacagagcattga c.*300
. . . . . . g.6464
ccattggcttccctcatctgaggcgtgggagagcagactggatagatgagaattgtttta c.*360
. . . . . . g.6524
aaacaattgtgaacagaaactgaagatggtacagttctacatctgcacctgccctttttt c.*420
. . . . . . g.6584
cataccacaaaagtattttttgagtactgtactgactttttgctagtttctattctggga c.*480
. . . . . . g.6644
ccgagttcacagataaatccattggtttgtatccttgagaaactttgtttttgtggaagt c.*540
. . . . . g.6696
aagaaagttatctactagattatttcctctaataaaatcttttaaaatagtc c.*592
(downstream sequence)
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