(used for variant description)
(last modified September 10, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_138701.3 in the MPLKIP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016989.2, covering MPLKIP transcript NM_138701.3.
(upstream sequence)
. . g.5025
ggactagcagttctctgcggagggc c.-61
. . . . . . g.5085
cggttgatacagttccggtgggagaacgcggctgcgaggttttcggctttggctcctgat c.-1
. . . . . . g.5145
ATGCAGCGACAGAATTTTCGGCCCCCAACTCCTCCTTACCCTGGTCCGGGTGGAGGAGGT c.60
M Q R Q N F R P P T P P Y P G P G G G G p.20
. . . . . . g.5205
TGGGGTAGCGGAAGCAGCTTCCGGGGAACCCCGGGCGGGGGCGGACCACGGCCGCCCTCC c.120
W G S G S S F R G T P G G G G P R P P S p.40
. . . . . . g.5265
CCTCGAGACGGGTACGGGAGTCCGCACCACACGCCGCCGTACGGGCCCCGGTCTAGGCCG c.180
P R D G Y G S P H H T P P Y G P R S R P p.60
. . . . . . g.5325
TACGGGAGCAGTCACTCTCCGCGACACGGCGGCAGCTTCCCGGGGGGCCGGTTCGGGTCT c.240
Y G S S H S P R H G G S F P G G R F G S p.80
. . . . . . g.5385
CCGTCCCCTGGCGGCTACCCTGGCTCCTACTCCAGGTCCCCCGCGGGGTCCCAGCAGCAA c.300
P S P G G Y P G S Y S R S P A G S Q Q Q p.100
. . . | 02 . . g.6414
TTCGGCTACTCCCCAGGGCAGCAGCAGACCCACCCCCAG | GGTTCTCCAAGGACATCTACA c.360
F G Y S P G Q Q Q T H P Q | G S P R T S T p.120
. . . . . . g.6474
CCATTTGGATCAGGGCGTGTTAGAGAAAAAAGAATGTCTAATGAGTTGGAAAATTATTTC c.420
P F G S G R V R E K R M S N E L E N Y F p.140
. . . . . . g.6534
AAGCCTTCAATGCTTGAAGATCCTTGGGCTGGCCTAGAACCAGTATCTGTAGTGGATATA c.480
K P S M L E D P W A G L E P V S V V D I p.160
. . . . . . g.6594
AGCCAACAATACAGCAATACTCAAACATTCACAGGCAAAAAAGGAAGATACTTTTGTTAA c.540
S Q Q Y S N T Q T F T G K K G R Y F C X p.179
. . . . . . g.6654
catttctgaaattcaactggaagcttcatgtgtcaggaacatcttggacaaaactttaag c.*60
. . . . . . g.6714
ttgtgttgatataaatttacccaaagatgatgactttgattggataattagtaaggtctt c.*120
. . . . . . g.6774
tttgttatttttcatcgtatcaggtattgttgatattagagaaaaaagtaggataacttg c.*180
. . . . . . g.6834
caacatttagctctggaagtacctaccacattttagagatttaccgtttccatatattta c.*240
. . . . . . g.6894
acattcctggttacataatggacatttgtcttttaatgttttttcaatgttttaaaataa c.*300
. g.6910
aacattttgtcttcta c.*316
(downstream sequence)
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