(used for mutation description)
(last modified April 4, 2013)
This file was created to facilitate the description of sequence variants in the B3GNT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033202.1, covering B3GNT1 transcript NM_006876.2.
(upstream sequence)
. . g.5025
gcggcgggcggggcggcgctcgggg c.-121
. . . . . . g.5085
ctcggctggcctcggctcgcctcggctgcgctcggcaggctgcggtaaatccgggcttgc c.-61
. . . . . . g.5145
ggccgctggcgtagtctgtggccgggtggtcgttgctgcgcgccccgagccccgagagcc c.-1
. . . . . . g.5205
ATGCAGATGTCCTACGCCATCCGGTGCGCCTTCTACCAGCTGCTGCTGGCCGCGCTCATG c.60
M Q M S Y A I R C A F Y Q L L L A A L M p.20
. . . . . . g.5265
CTGGTGGCGATGCTGCAGCTGCTCTACCTGTCGCTGCTGTCCGGACTGCACGGGCAGGAG c.120
L V A M L Q L L Y L S L L S G L H G Q E p.40
. . . . . . g.5325
GAGCAAGACCAATATTTTGAGTTCTTTCCCCCGTCCCCACGGTCCGTGGACCAGGTCAAG c.180
E Q D Q Y F E F F P P S P R S V D Q V K p.60
. . . . . . g.5385
GCGCAGCTCCGCACCGCGCTGGCCTCTGGAGGCGTCCTGGACGCTAGCGGCGATTACCGC c.240
A Q L R T A L A S G G V L D A S G D Y R p.80
. . . . . . g.5445
GTCTACAGGGGCCTGCTGAAGACCACCATGGACCCCAACGATGTGATCCTGGCCACGCAC c.300
V Y R G L L K T T M D P N D V I L A T H p.100
. . . . . . g.5505
GCCAGCGTGGACAACCTGCTGCACCTGTCGGGTCTGCTGGAGCGCTGGGAGGGCCCGCTG c.360
A S V D N L L H L S G L L E R W E G P L p.120
. . . . . . g.5565
TCCGTGTCGGTGTTCGCGGCCACCAAGGAGGAGGCGCAGCTGGCCACGGTGCTGGCCTAC c.420
S V S V F A A T K E E A Q L A T V L A Y p.140
. . . . . . g.5625
GCGCTGAGCAGCCACTGCCCCGACATGCGCGCCAGGGTCGCCATGCACCTCGTGTGCCCC c.480
A L S S H C P D M R A R V A M H L V C P p.160
. . . . . . g.5685
TCGCGTTACGAGGCAGCCGTGCCCGACCCCCGGGAGCCGGGGGAGTTTGCCCTGCTGCGG c.540
S R Y E A A V P D P R E P G E F A L L R p.180
. . . . . . g.5745
TCCTGCCAGGAGGTCTTTGACAAGCTAGCCAGGGTGGCCCAGCCCGGGATTAATTATGCG c.600
S C Q E V F D K L A R V A Q P G I N Y A p.200
. . . . . . g.5805
CTGGGCACCAATGTCTCCTACCCCAATAACCTGCTGAGGAATCTGGCTCGTGAGGGGGCC c.660
L G T N V S Y P N N L L R N L A R E G A p.220
. . . . . . g.5865
AACTATGCCCTGGTGATCGATGTGGACATGGTGCCCAGCGAGGGGCTGTGGAGAGGCCTG c.720
N Y A L V I D V D M V P S E G L W R G L p.240
. . . . . . g.5925
CGGGAAATGCTGGATCAGAGCAACCAGTGGGGAGGCACCGCGCTGGTGGTGCCTGCCTTC c.780
R E M L D Q S N Q W G G T A L V V P A F p.260
. . . . . . g.5985
GAAATCCGAAGAGCCCGCCGCATGCCCATGAACAAAAACGAGCTGGTGCAGCTCTACCAG c.840
E I R R A R R M P M N K N E L V Q L Y Q p.280
. . . . . . g.6045
GTTGGCGAGGTGCGGCCCTTCTATTATGGGTTGTGCACCCCCTGCCAGGCACCCACCAAC c.900
V G E V R P F Y Y G L C T P C Q A P T N p.300
. . . . . . g.6105
TATTCCCGCTGGGTCAACCTGCCGGAAGAGAGCTTGCTGCGGCCCGCCTACGTGGTACCT c.960
Y S R W V N L P E E S L L R P A Y V V P p.320
. . . . . . g.6165
TGGCAGGACCCCTGGGAGCCATTCTACGTGGCAGGAGGCAAGGTGCCCACCTTCGACGAG c.1020
W Q D P W E P F Y V A G G K V P T F D E p.340
. . . | 02 . . . g.6474
CGCTTTCGGCAGTACGGCTTCAACCGAATCAGCCAG | GCCTGCGAGCTGCATGTGGCGGGG c.1080
R F R Q Y G F N R I S Q | A C E L H V A G p.360
. . . . . . g.6534
TTTGATTTTGAGGTCCTGAACGAAGGTTTCTTGGTTCATAAGGGCTTCAAAGAAGCGTTG c.1140
F D F E V L N E G F L V H K G F K E A L p.380
. . . . . . g.6594
AAGTTCCATCCCCAAAAGGAGGCTGAAAATCAGCACAATAAGATCCTATATCGCCAGTTC c.1200
K F H P Q K E A E N Q H N K I L Y R Q F p.400
. . . . g.6642
AAACAGGAGTTGAAGGCCAAGTACCCCAACTCTCCCCGACGCTGCTGA c.1248
K Q E L K A K Y P N S P R R C X p.415
. . . . . . g.6702
gcccttccctcccctaatctgagaagtcagcctcttggctcctcaggccaccatttaggc c.*60
. . . . . . g.6762
ctgactggggtaagaaatgtcgctccactttacagaggtagctgtggtgttgaaacactg c.*120
. . . . . . g.6822
gacttggatatggggtgctgggatcgattcctagctttaccactaactagctgtgtggcc c.*180
. . . . . . g.6882
ttgagtaaatcccgttacctctctgagcctcggttaccctgtctgtaaaaagggaggtga c.*240
. . . . . . g.6942
gaatacctacctcacggaactgttgggaggctcagatgagatgctatatgtgaaaacatt c.*300
. . . . . . g.7002
ctgtaagcttcgtacaaatgtgaagtattaatattatcgcagtattattgttgttattat c.*360
. . . . . . g.7062
tattgttattattaacaatcttgggtgggtagtaggagagcaaaaagtatgaatgggatg c.*420
. . . . . . g.7122
gagctaagaagtctgaatacttaatgaaatggactttttggaaagaaatcagatgaaggc c.*480
. . . . . . g.7182
ataaaatttagttcttagctcttgaacagaagcctaaaattcctggttctctcagggctt c.*540
. . . . . . g.7242
cgccttcaagggttctggaggagggaagggtctgcaggttccatgggtgacagcctgaga c.*600
. . . . . . g.7302
tctgtcccttcaacgggctgggctgggtatgtgcctaccgatgacaatgtgtaaataaat c.*660
. g.7319
gcgtgttcacacccaca c.*677
(downstream sequence)
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