(used for variant description)
(last modified October 5, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_030765.2 in the B3GNT4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering B3GNT4 transcript NM_030765.2.
(upstream sequence)
. . . g.5038
attcccacctcctccagaagccccgcccactcccgagc c.-181
. . . . . . g.5098
cccgagagctccgcgcacctgggcgccatccgccctggctccgctgcacgagctccacgc c.-121
. . . | 02 . . . g.5878
ccgtaccccggcgtcacgctcag | cccgcggtgctcgcacacctgagactcatctcgcttc c.-61
. . . . . . g.5938
gaccccgccgccgccgccgcccggcatcctgagcacggagacagtctccagctgccgttc c.-1
. . . . . . g.5998
ATGCTTCCTCCCCAGCCTTCCGCAGCCCACCAGGGAAGGGGCGGTAGGAGTGGCCTTTTA c.60
M L P P Q P S A A H Q G R G G R S G L L p.20
| 03 . . . . . . g.7691
CCAAAG | GGACCGGCGATGCTCTGCAGGCTGTGCTGGCTGGTCTCGTACAGCTTGGCTGTG c.120
P K | G P A M L C R L C W L V S Y S L A V p.40
. . . . . . g.7751
CTGTTGCTCGGCTGCCTGCTCTTCCTGAGGAAGGCGGCCAAGCCCGCAGGAGACCCCACG c.180
L L L G C L L F L R K A A K P A G D P T p.60
. . . . . . g.7811
GCCCACCAGCCTTTCTGGGCTCCCCCAACACCCCGTCACAGCCGGTGTCCACCCAACCAC c.240
A H Q P F W A P P T P R H S R C P P N H p.80
. . . . . . g.7871
ACAGTGTCTAGCGCCTCTCTGTCCCTGCCTAGCCGTCACCGTCTCTTCTTGACCTATCGT c.300
T V S S A S L S L P S R H R L F L T Y R p.100
. . . . . . g.7931
CACTGCCGAAATTTCTCTATCTTGCTGGAGCCTTCAGGCTGTTCCAAGGATACCTTCTTG c.360
H C R N F S I L L E P S G C S K D T F L p.120
. . . . . . g.7991
CTCCTGGCCATCAAGTCACAGCCTGGTCACGTGGAGCGACGTGCGGCTATCCGCAGCACG c.420
L L A I K S Q P G H V E R R A A I R S T p.140
. . . . . . g.8051
TGGGGCAGGGTGGGGGGATGGGCTAGGGGCCGGCAGCTGAAGCTGGTGTTCCTCCTAGGG c.480
W G R V G G W A R G R Q L K L V F L L G p.160
. . . . . . g.8111
GTGGCAGGATCCGCTCCCCCAGCCCAGCTGCTGGCCTATGAGAGTAGGGAGTTTGATGAC c.540
V A G S A P P A Q L L A Y E S R E F D D p.180
. . . . . . g.8171
ATCCTCCAGTGGGACTTCACTGAGGACTTCTTCAACCTGACGCTCAAGGAGCTGCACCTG c.600
I L Q W D F T E D F F N L T L K E L H L p.200
. . . . . . g.8231
CAGCGCTGGGTGGTGGCTGCCTGCCCCCAGGCCCATTTCATGCTAAAGGGAGATGACGAT c.660
Q R W V V A A C P Q A H F M L K G D D D p.220
. . . . . . g.8291
GTCTTTGTCCACGTCCCCAACGTGTTAGAGTTCCTGGATGGCTGGGACCCAGCCCAGGAC c.720
V F V H V P N V L E F L D G W D P A Q D p.240
. . . . . . g.8351
CTCCTGGTGGGAGATGTCATCCGCCAAGCCCTGCCCAACAGGAACACTAAGGTCAAATAC c.780
L L V G D V I R Q A L P N R N T K V K Y p.260
. . . . . . g.8411
TTCATCCCACCCTCAATGTACAGGGCCACCCACTACCCACCCTATGCTGGTGGGGGAGGA c.840
F I P P S M Y R A T H Y P P Y A G G G G p.280
. . . . . . g.8471
TATGTCATGTCCAGAGCCACAGTGCGGCGCCTCCAGGCTATCATGGAAGATGCTGAACTC c.900
Y V M S R A T V R R L Q A I M E D A E L p.300
. . . . . . g.8531
TTCCCCATTGATGATGTCTTTGTGGGTATGTGCCTGAGGCGGCTGGGGCTGAGCCCTATG c.960
F P I D D V F V G M C L R R L G L S P M p.320
. . . . . . g.8591
CACCATGCTGGCTTCAAGACATTTGGAATCCGGCGGCCCCTGGACCCCTTAGACCCCTGC c.1020
H H A G F K T F G I R R P L D P L D P C p.340
. . . . . . g.8651
CTGTATAGGGGGCTCCTGCTGGTTCACCGCCTCAGCCCCCTCGAGATGTGGACCATGTGG c.1080
L Y R G L L L V H R L S P L E M W T M W p.360
. . . . . g.8708
GCACTGGTGACAGATGAGGGGCTCAAGTGTGCAGCTGGCCCCATACCCCAGCGCTGA c.1137
A L V T D E G L K C A A G P I P Q R X p.378
. . . . . . g.8768
agggtgggttgggcaacagcctgagagtggactcagtgttgattctctatcgtgatgcga c.*60
. . . . . . g.8828
aattgatgcctgctgctctacagaaaatgccaacttggttttttaactcctctcaccctg c.*120
. . g.8857
ttagctctgattaaaaacactgcaaccca c.*149
(downstream sequence)
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