(used for variant description)
(last modified January 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_013444.3 in the UBQLN2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016249.1, covering UBQLN2 transcript NM_013444.3.
(upstream sequence)
. . . . g.5041
tgccagagttgctgggagtgcgcgcggtcggatcacaaggc c.-241
. . . . . . g.5101
ggcggcggaggaggcccagagaccggagcgcggagacctcagccagcggcctacgcccag c.-181
. . . . . . g.5161
gcctttctccaccggaggaccagggaaccgcagtcttcatcacagaggtaccgtgctccg c.-121
. . . . . . g.5221
cgctccccgcctgacccggcccagcccgctgcggcggtgcctccttccttcctccttccc c.-61
. . . . . . g.5281
tcgcgctctctctttcgcccgcccgcgccttccctgcccgcctgcgtcaccgcggccgcc c.-1
. . . . . . g.5341
ATGGCTGAGAATGGCGAGAGCAGCGGCCCCCCGCGCCCCTCCCGCGGCCCTGCTGCGGCC c.60
M A E N G E S S G P P R P S R G P A A A p.20
. . . . . . g.5401
CAAGGCTCGGCTGCTGCCCCGGCTGAGCCTAAAATCATCAAAGTCACGGTGAAGACTCCC c.120
Q G S A A A P A E P K I I K V T V K T P p.40
. . . . . . g.5461
AAAGAGAAAGAGGAGTTCGCGGTGCCCGAGAACAGCTCGGTTCAGCAGTTTAAGGAAGCG c.180
K E K E E F A V P E N S S V Q Q F K E A p.60
. . . . . . g.5521
ATTTCGAAACGCTTCAAATCCCAAACCGATCAGCTAGTGCTGATTTTTGCCGGAAAAATC c.240
I S K R F K S Q T D Q L V L I F A G K I p.80
. . . . . . g.5581
TTAAAAGATCAAGATACCTTGATCCAGCATGGCATCCATGATGGGCTGACTGTTCACCTT c.300
L K D Q D T L I Q H G I H D G L T V H L p.100
. . . . . . g.5641
GTCATCAAAAGCCAGAACCGACCTCAGGGCCAGTCCACGCAGCCTAGCAATGCCGCGGGA c.360
V I K S Q N R P Q G Q S T Q P S N A A G p.120
. . . . . . g.5701
ACTAACACTACCTCGGCGTCGACTCCCAGGAGTAACTCCACACCTATTTCCACAAATAGC c.420
T N T T S A S T P R S N S T P I S T N S p.140
. . . . . . g.5761
AACCCGTTTGGGTTGGGGAGCCTGGGAGGACTTGCAGGCCTTAGCAGCCTGGGCTTGAGC c.480
N P F G L G S L G G L A G L S S L G L S p.160
. . . . . . g.5821
TCGACCAACTTCTCTGAGCTCCAGAGCCAGATGCAGCAGCAGCTTATGGCCAGCCCTGAG c.540
S T N F S E L Q S Q M Q Q Q L M A S P E p.180
. . . . . . g.5881
ATGATGATCCAAATAATGGAAAATCCCTTTGTTCAGAGCATGCTTTCGAATCCCGATCTG c.600
M M I Q I M E N P F V Q S M L S N P D L p.200
. . . . . . g.5941
ATGAGGCAGCTCATTATGGCTAATCCACAGATGCAGCAATTGATTCAGAGAAACCCAGAA c.660
M R Q L I M A N P Q M Q Q L I Q R N P E p.220
. . . . . . g.6001
ATCAGTCACCTGCTCAACAACCCAGACATAATGAGGCAGACACTCGAAATTGCCAGGAAT c.720
I S H L L N N P D I M R Q T L E I A R N p.240
. . . . . . g.6061
CCAGCCATGATGCAAGAGATGATGAGAAATCAAGACCTGGCTCTTAGCAATCTAGAAAGC c.780
P A M M Q E M M R N Q D L A L S N L E S p.260
. . . . . . g.6121
ATCCCAGGTGGCTATAATGCTTTACGGCGCATGTACACTGACATTCAAGAGCCGATGCTG c.840
I P G G Y N A L R R M Y T D I Q E P M L p.280
. . . . . . g.6181
AATGCCGCACAAGAGCAGTTTGGGGGTAATCCATTTGCCTCCGTGGGGAGTAGTTCCTCC c.900
N A A Q E Q F G G N P F A S V G S S S S p.300
. . . . . . g.6241
TCTGGGGAAGGTACGCAGCCTTCCCGCACAGAAAATCGCGATCCACTACCCAATCCATGG c.960
S G E G T Q P S R T E N R D P L P N P W p.320
. . . . . . g.6301
GCACCACCGCCAGCTACCCAGAGTTCTGCAACTACCAGCACGACCACAAGCACTGGTAGT c.1020
A P P P A T Q S S A T T S T T T S T G S p.340
. . . . . . g.6361
GGGTCTGGCAATAGTTCCAGCAATGCTACTGGGAACACCGTTGCTGCCGCTAATTATGTC c.1080
G S G N S S S N A T G N T V A A A N Y V p.360
. . . . . . g.6421
GCCAGCATCTTTAGTACCCCAGGCATGCAGAGCCTGCTGCAACAGATAACTGAAAACCCC c.1140
A S I F S T P G M Q S L L Q Q I T E N P p.380
. . . . . . g.6481
CAGCTGATTCAGAATATGCTGTCGGCGCCCTACATGAGAAGCATGATGCAGTCGCTGAGC c.1200
Q L I Q N M L S A P Y M R S M M Q S L S p.400
. . . . . . g.6541
CAGAATCCAGATTTGGCTGCACAGATGATGCTGAATAGCCCGCTGTTTACTGCAAATCCT c.1260
Q N P D L A A Q M M L N S P L F T A N P p.420
. . . . . . g.6601
CAGCTGCAGGAGCAGATGCGGCCACAGCTCCCAGCCTTCCTGCAGCAGATGCAGAATCCA c.1320
Q L Q E Q M R P Q L P A F L Q Q M Q N P p.440
. . . . . . g.6661
GACACACTATCAGCCATGTCAAACCCAAGAGCAATGCAGGCTTTAATGCAGATCCAGCAG c.1380
D T L S A M S N P R A M Q A L M Q I Q Q p.460
. . . . . . g.6721
GGGCTACAGACATTAGCCACTGAAGCACCTGGCCTGATTCCGAGCTTCACTCCAGGTGTG c.1440
G L Q T L A T E A P G L I P S F T P G V p.480
. . . . . . g.6781
GGGGTGGGGGTGCTGGGAACCGCTATAGGCCCTGTAGGCCCAGTCACCCCCATAGGCCCC c.1500
G V G V L G T A I G P V G P V T P I G P p.500
. . . . . . g.6841
ATAGGCCCTATAGTCCCTTTTACCCCCATAGGCCCCATTGGGCCCATAGGACCCACTGGC c.1560
I G P I V P F T P I G P I G P I G P T G p.520
. . . . . . g.6901
CCTGCAGCCCCCCCTGGCTCCACCGGCTCTGGTGGCCCCACGGGGCCTACTGTGTCCAGC c.1620
P A A P P G S T G S G G P T G P T V S S p.540
. . . . . . g.6961
GCTGCACCTAGTGAAACCACGAGTCCTACATCAGAATCTGGACCCAACCAGCAGTTCATT c.1680
A A P S E T T S P T S E S G P N Q Q F I p.560
. . . . . . g.7021
CAGCAAATGGTGCAGGCCCTGGCTGGAGCAAATGCTCCACAGCTGCCGAATCCAGAAGTC c.1740
Q Q M V Q A L A G A N A P Q L P N P E V p.580
. . . . . . g.7081
AGATTTCAGCAACAACTGGAACAGCTCAACGCAATGGGGTTCTTAAACCGTGAAGCAAAC c.1800
R F Q Q Q L E Q L N A M G F L N R E A N p.600
. . . . . . g.7141
TTGCAGGCCCTAATAGCAACAGGAGGCGACATCAATGCAGCCATTGAAAGGCTGCTGGGC c.1860
L Q A L I A T G G D I N A A I E R L L G p.620
. g.7156
TCCCAGCCATCGTAA c.1875
S Q P S X p.624
. . . . . . g.7216
tcacatttctgtacctggaaaaaaaatgtatcttatttttgataatggctcttaaatctt c.*60
. . . . . . g.7276
taaacacacacacaaaatcgttctttactttcattttgattcttttaaatctgtctagtt c.*120
. . . . . . g.7336
gtaagtctaatatgatgcattttaagatggagtccctccctcctacttccctcactccct c.*180
. . . . . . g.7396
ttctcctttgcttatttttcctaccttcccttcctcttgtctccccactccctccctctt c.*240
. . . . . . g.7456
tgtttccttccttccttatttcctttagtttccttccttagccgttttgagtggtgggaa c.*300
. . . . . . g.7516
tcaatgctgtttcactcaaaagtgttgcatgcaaacacttctctttattctgcatttatt c.*360
. . . . . . g.7576
gtgatttttggaaacaggtatcaaccttcacagttgggtgaacaagtgttgtcctacaga c.*420
. . . . . . g.7636
tgtccaatttatttgcatttttaaacattagcctatgatagtaatttaatgtagaatgaa c.*480
. . . . . . g.7696
gatattaaaaacagaagcaaattatttgaagctctctaatttgtggtacgatattgctta c.*540
. . . . . . g.7756
ttgtgactttggcatgtatttttgctagcaaaatgctgtaagatttataccattgatctt c.*600
. . . . . . g.7816
ttttgctatatttgtatacagtacagtaagcacaattggcactgtacatctaaaaatatt c.*660
. . . . . . g.7876
acagtagaatctgagtgtaatatgtgtaaccaaaatgagaaagaatacaagaaatgtttc c.*720
. . . . . . g.7936
tggagctagttatgtctcacaattttgtagaatcttacagcatctttgataaacttctca c.*780
. . . . . . g.7996
gtgaaaatgttggctaggcaagttcagttaaaatatagtagaaatgtttatcctggtatc c.*840
. . . . . . g.8056
tctaagtatacatttaattgtacagaaaatttacagtgtaacattgtgtcaacatttgca c.*900
. . . . . . g.8116
gattgactgtatatgaccttaatctttgtgcagcctgaaggatcagtgtagtaatgccag c.*960
. . . . . . g.8176
gaaagtgctttttacctaagacttccttctcagcttctcccataaagagaccctaatatg c.*1020
. . . . . . g.8236
cattttgatttgtaattggaaatgtaactttcactgaaagtgtcatgtgatgtttgcatt c.*1080
. . . . . . g.8296
acttttaactgctatgtataaaggaaagtgtgtcttttgacttcatcagttatttctctt c.*1140
. . . . . . g.8356
gtgcacagagaaaaatgcattaaaaatgactaaaaaaaataaaaaattaaaaaatggata c.*1200
. . . . . . g.8416
aatcttttctttttgccttttggccctaggatcgtgtttaggaggattatcccaccccga c.*1260
g.8418
ga c.*1262
(downstream sequence)
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