(used for variant description)
(last modified July 19, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_014176.3 in the UBE2T gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering UBE2T transcript NM_014176.3.
(upstream sequence)
. g.5016
agtcagaggtcgcgca c.-121
. . . . . . | 02 g.11152
ggcgctggtaccccgttggtccgcgcgttgctgcgttgtgaggggtgtcagctcag | tgca c.-61
. . . . . . g.11212
tcccaggcagctcttagtgtggagcagtgaactgtgtgtggttccttctacttggggatc c.-1
. . . . . . g.11272
ATGCAGAGAGCTTCACGTCTGAAGAGAGAGCTGCACATGTTAGCCACAGAGCCACCCCCA c.60
M Q R A S R L K R E L H M L A T E P P P p.20
. . . . | 03 . g.11919
GGCATCACATGTTGGCAAGATAAAGACCAAATGGATGACCTGCGAGCTC | AAATATTAGGT c.120
G I T C W Q D K D Q M D D L R A Q | I L G p.40
. . . . . | 04 g.13412
GGAGCCAACACACCTTATGAGAAAGGTGTTTTTAAGCTAGAAGTTATCATTCCTGAGAG | G c.180
G A N T P Y E K G V F K L E V I I P E R | p.60
. . . . . . g.13472
TACCCATTTGAACCTCCTCAGATCCGATTTCTCACTCCAATTTATCATCCAAACATTGAT c.240
Y P F E P P Q I R F L T P I Y H P N I D p.80
. . . . | 05 . . g.13646
TCTGCTGGAAGGATTTGTCTGGATGTTCTCAAATTGCCACCAAAA | GGTGCTTGGAGACCA c.300
S A G R I C L D V L K L P P K | G A W R P p.100
. . . . . . g.13706
TCCCTCAACATCGCAACTGTGTTGACCTCTATTCAGCTGCTCATGTCAGAACCCAACCCT c.360
S L N I A T V L T S I Q L L M S E P N P p.120
. . | 06 . . . . g.13909
GATGACCCGCTCATGGCTGACATA | TCCTCAGAATTTAAATATAATAAGCCAGCCTTCCTC c.420
D D P L M A D I | S S E F K Y N K P A F L p.140
. . . . | 07 . g.15018
AAGAATGCCAGACAGTGGACAGAGAAGCATGCAAGACAGAAACAAAAG | GCTGATGAGGAA c.480
K N A R Q W T E K H A R Q K Q K | A D E E p.160
. . . . . . g.15078
GAGATGCTTGATAATCTACCAGAGGCTGGTGACTCCAGAGTACACAACTCAACACAGAAA c.540
E M L D N L P E A G D S R V H N S T Q K p.180
. . . . . g.15132
AGGAAGGCCAGTCAGCTAGTAGGCATAGAAAAGAAATTTCATCCTGATGTTTAG c.594
R K A S Q L V G I E K K F H P D V X p.197
. . . . . . g.15192
gggacttgtcctggttcatcttagttaatgtgttctttgccaaggtgatctaagttgcct c.*60
. . . . . . g.15252
accttgaatttttttttaaatatatttgatgacataatttttgtgtagtttatttatctt c.*120
. . . . . g.15310
gtacatatgtattttgaaatcttttaaacctgaaaaataaatagtcatttaatgttga c.*178
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 13
©2004-2015 Leiden University Medical Center