(used for variant description)
(last modified June 8, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_022915.3 in the MRPL44 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_050679.1, covering MRPL44 transcript NM_022915.3.
(upstream sequence)
g.11523
ggggaagtg c.-61
. . . . . . g.11583
tgttacggggacactggcccgactactttcgttccgtcttccatcgttttctctcgtgca c.-1
. . . . . . g.11643
ATGGCGTCCGGGCTGGTAAGATTGCTGCAGCAGGGACATCGCTGCCTCCTGGCTCCAGTC c.60
M A S G L V R L L Q Q G H R C L L A P V p.20
. . . . . . g.11703
GCCCCCAAGCTGGTCCCTCCGGTTCGGGGAGTGAAGAAGGGATTCCGCGCCGCCTTCCGC c.120
A P K L V P P V R G V K K G F R A A F R p.40
. . . . . | 02 g.13645
TTCCAGAAGGAGTTAGAGCGGCAGCGCCTTCTGCGGTGCCCGCCGCCGCCCGTGCGCCG | T c.180
F Q K E L E R Q R L L R C P P P P V R R | p.60
. . . . . . g.13705
TCAGAGAAGCCGAACTGGGATTACCATGCAGAAATACAAGCTTTTGGACATCGGTTACAG c.240
S E K P N W D Y H A E I Q A F G H R L Q p.80
. . . . . . g.13765
GAAAACTTTTCCTTAGATCTTCTCAAAACTGCATTTGTTAATAGCTGCTATATTAAAAGT c.300
E N F S L D L L K T A F V N S C Y I K S p.100
. . . . . . g.13825
GAGGAGGCCAAACGCCAACAACTTGGGATAGAGAAAGAAGCTGTTCTTCTGAATCTTAAA c.360
E E A K R Q Q L G I E K E A V L L N L K p.120
. . . . . . g.13885
AGTAATCAAGAACTATCCGAACAAGGGACATCTTTTTCACAGACTTGCCTTACACAGTTT c.420
S N Q E L S E Q G T S F S Q T C L T Q F p.140
. . . . . . g.13945
CTTGAAGACGAGTACCCAGACATGCCCACTGAAGGCATAAAAAATCTTGTTGACTTTCTC c.480
L E D E Y P D M P T E G I K N L V D F L p.160
. . . . . . g.14005
ACTGGTGAGGAAGTCGTGTGTCACGTGGCTAGAAACTTGGCTGTGGAGCAGTTAACACTG c.540
T G E E V V C H V A R N L A V E Q L T L p.180
. . . . . . g.14065
AGTGAAGAATTCCCAGTGCCCCCAGCTGTGTTACAGCAGACTTTCTTTGCAGTTATTGGA c.600
S E E F P V P P A V L Q Q T F F A V I G p.200
. . . . | 03 . g.17878
GCCCTGTTACAGAGCAGTGGACCTGAGAGGACTGCACTTTTCATCAGG | GACTTCTTAATT c.660
A L L Q S S G P E R T A L F I R | D F L I p.220
. . . . . . g.17938
ACTCAAATGACTGGAAAAGAGCTCTTTGAGATGTGGAAGATAATAAATCCCATGGGGCTA c.720
T Q M T G K E L F E M W K I I N P M G L p.240
. . . . . . g.17998
TTGGTAGAAGAACTGAAGAAAAGGAATGTTTCAGCTCCTGAATCAAGACTTACTAGGCAG c.780
L V E E L K K R N V S A P E S R L T R Q p.260
. . . . | 04. . g.20986
TCTGGTGGCACCACAGCTTTGCCTTTGTATTTTGTTGGCTTATACTG | TGATAAAAAGTTG c.840
S G G T T A L P L Y F V G L Y C | D K K L p.280
. . . . . . g.21046
ATTGCAGAAGGACCTGGGGAAACAGTATTGGTTGCAGAAGAAGAGGCTGCTCGAGTGGCC c.900
I A E G P G E T V L V A E E E A A R V A p.300
. . . . . . g.21106
CTTAGAAAACTTTATGGATTCACAGAAAATAGACGGCCGTGGAACTATTCCAAGCCCAAA c.960
L R K L Y G F T E N R R P W N Y S K P K p.320
. . . g.21145
GAAACCTTGAGAGCAGAAAAGAGCATCACTGCCAGCTAG c.999
E T L R A E K S I T A S X p.332
. . . . . . g.21205
ccgccatggatgcagcagcctgaaacttgagagcgaaagtgagataaatgtcaaaggtgt c.*60
. . . . . . g.21265
ttcaagccagacattttcacaattgtgaagaaatagatgttttgtttctgttttttactg c.*120
. . . . . . g.21325
tgttcccaaaattaaataaatgttaaccaagtcacagtgtttttggttttgtttttctga c.*180
. . . . . . g.21385
aatcttggtttgatcaaatctttttttttttctcttgagatggagtcttactctgtcgcc c.*240
. . . . . . g.21445
caggctggactgcagtggtgcgatctcggctcactgcaacctccacctcacaggttcaag c.*300
. . . . . . g.21505
cgattctcgtggctcagcctccctagtagctgggattacaggcacacaccaccatacctg c.*360
. . . . . . g.21565
gctaatttttgtatttttggtagacatggggtttcaccaagttggctaggctagtcttga c.*420
. . . . . . g.21625
actcctgacctcaggtgatccacccgccttggcctcccaaagtgctgggattacaggtgt c.*480
. . . . . . g.21685
gagccactatacccgaccagatcaaatctttttttgacatttttgcaaaaaaattttcct c.*540
. . . . . . g.21745
aatgttcttgatttaattgtatagaatttgtataattaggtgtattttatttgcgtctag c.*600
. . . . . . g.21805
ctttgaggtatcataatttatgtatcttatgtgaattttttgctgtaataccaataaagt c.*660
. . g.21825
tttttttctccacatgttaa c.*680
(downstream sequence)
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