(used for variant description)
(last modified July 24, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_018006.4 in the TRMU gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012173.1, covering TRMU transcript NM_018006.4.
(upstream sequence)
g.5004
gccg c.-361
. . . . . . g.5064
agaggaggcctccaatggctggctggggggcttagaattttatttttggtttacagcgca c.-301
. . . . . . g.5124
gaagaagagcagtgaggccggggcgcgggtggggagggcaaggcggcggctcaaaaaaaa c.-241
. . . . . . g.5184
agccagcccctcgcggcccgacagagtctcggcgccccgcgggtcggtggagcctcaggg c.-181
. . . . . . g.5244
gtgagcgcaggccggagacaggggaacccgccgcgggacaggggaaggccggacggaacg c.-121
. . . . . . g.5304
cgggtaagctgccgcagcttccggccgggccactagcgcggaccctacggccggggcggg c.-61
. . . . . . g.5364
acttccggcaaggcgcggaagcggcggtagctgcagctggcgaagttgggcgactggcgg c.-1
. . . . . . g.5424
ATGCAGGCCTTGCGGCACGTCGTGTGCGCCCTGTCCGGCGGCGTGGACAGCGCCGTGGCC c.60
M Q A L R H V V C A L S G G V D S A V A p.20
. . | 02 . . . . g.7416
GCGCTGCTGCTGAGGCGGAGAG | GTTACCAGGTGACAGGGGTGTTTATGAAGAACTGGGAC c.120
A L L L R R R G | Y Q V T G V F M K N W D p.40
. . . . . . g.7476
TCACTGGATGAACATGGGGTCTGTACTGCCGACAAAGACTGTGAAGATGCTTACAGAGTT c.180
S L D E H G V C T A D K D C E D A Y R V p.60
. . . . . . g.7536
TGCCAGATCTTAGACATCCCTTTCCATCAAGTGTCCTACGTAAAGGAGTATTGGAATGAT c.240
C Q I L D I P F H Q V S Y V K E Y W N D p.80
| 03 . . . . . g.12913
GTGTTCAG | TGACTTTTTGAATGAGTATGAAAAAGGAAGGACTCCCAATCCTGACATAGTT c.300
V F S | D F L N E Y E K G R T P N P D I V p.100
. . . . . | 04 . g.16026
TGCAACAAGCACATCAAATTTAGTTGCTTTTTTCATTATGCTGTGGATAATCTTG | GGGCA c.360
C N K H I K F S C F F H Y A V D N L G | A p.120
. . . . . . g.16086
GATGCCATTGCCACAGGTCACTATGCAAGAACTTCCCTGGAAGATGAAGAAGTCTTTGAG c.420
D A I A T G H Y A R T S L E D E E V F E p.140
. . . . . | 05 g.19892
CAGAAGCACGTTAAGAAGCCCGAAGGGCTTTTCAGAAATCGGTTTGAAGTTAGAAATG | CG c.480
Q K H V K K P E G L F R N R F E V R N A | p.160
. . . . . . g.19952
GTAAAACTCCTCCAGGCAGCTGACAGCTTTAAAGACCAGACCTTCTTTCTCAGCCAGGTT c.540
V K L L Q A A D S F K D Q T F F L S Q V p.180
. . . . . . g.20012
TCCCAGGATGCCCTGAGGAGAACCATCTTCCCTCTGGGGGGATTAACGAAAGAGTTTGTA c.600
S Q D A L R R T I F P L G G L T K E F V p.200
. . . . . | 06 . g.21729
AAGAAAATCGCTGCTGAGAATAGACTTCATCATGTGCTTCAGAAGAAAGAG | AGCATGGGC c.660
K K I A A E N R L H H V L Q K K E | S M G p.220
. . . . | 07 . . g.21878
ATGTGTTTCATCGGGAAGAGGAATTTTGAACATTTCCTTCTTCAG | TATCTGCAGCCTCGA c.720
M C F I G K R N F E H F L L Q | Y L Q P R p.240
. . . . . | 08 . g.23374
CCTGGTCACTTTATTTCCATAGAAGACAATAAGGTTCTGGGAACACATAAAG | GTTGGTTC c.780
P G H F I S I E D N K V L G T H K G | W F p.260
. . . . . . g.23434
CTGTATACCTTGGGCCAGAGAGCAAACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTG c.840
L Y T L G Q R A N I G G L R E P W Y V V p.280
. . . | 09 . . . g.25070
GAGAAGGACAGCGTCAAGGGTGACGTGTTTGTG | GCCCCCCGGACAGACCACCCAGCCCTG c.900
E K D S V K G D V F V | A P R T D H P A L p.300
. . . . . . g.25130
TACAGGGACCTGCTGAGGACCAGCCGCGTGCACTGGATTGCGGAGGAGCCTCCCGCAGCA c.960
Y R D L L R T S R V H W I A E E P P A A p.320
. . . . . | 10 g.25591
CTGGTCCGGGACAAGATGATGGAGTGCCACTTCCGATTCCGCCACCAGATGGCACTAG | TG c.1020
L V R D K M M E C H F R F R H Q M A L V | p.340
. . . . . . g.25651
CCCTGTGTGCTGACCCTCAATCAAGATGGCACCGTGTGGGTGACAGCTGTGCAGGCTGTG c.1080
P C V L T L N Q D G T V W V T A V Q A V p.360
. . | 11 . . . . g.26480
CGTGCCCTTGCCACAGGACAG | TTTGCTGTGTTCTACAAGGGGGACGAGTGCCTGGGCAGC c.1140
R A L A T G Q | F A V F Y K G D E C L G S p.380
. . . . . . g.26540
GGGAAGATCCTGCGGCTGGGGCCGTCTGCCTACACGCTCCAGAAGGGCCAGCGCAGAGCT c.1200
G K I L R L G P S A Y T L Q K G Q R R A p.400
. . . . . . g.26600
GGGATGGCCACTGAGAGCCCCAGTGACAGCCCAGAAGATGGTCCAGGCCTGAGTCCCTTG c.1260
G M A T E S P S D S P E D G P G L S P L p.420
g.26606
CTCTGA c.1266
L X p.421
. . . . . . g.26666
cagagatggatctgctagaaggaacctggagagcaggacccatggctgggcggctggtga c.*60
. . . . . . g.26726
gcagtccaggtgcccaagggccagcttgctgctgcccaaagcagaggaagccgggctggc c.*120
. . . . . . g.26786
tgagggtccgaaaagcctgcaggggcccggcgagccccaggaagagcctcagctccaggc c.*180
. . . . . . g.26846
tggggctctggctgctggagcatctgctggctggtggggtggcccgagttccccttcacc c.*240
. . . . . . g.26906
gcccccagggagggtttcccacctcagagtacaccgaggggacctgcagagggggctgtc c.*300
. . . g.26940
gggacagcgtggaataaacattatttcaaggaca c.*334
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 19
©2004-2017 Leiden University Medical Center