(used for variant description)
(last modified March 3, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_012200.3 in the B3GAT3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering B3GAT3 transcript NM_012200.3.
(upstream sequence)
. . . . g.5048
gggaccggaaatcaagtctacaaggcgggggggtgcacagatgaccgg c.-181
. . . . . . g.5108
aagcgtgccctggcggcgctgccagccccagctgggagctggtaggggagtgcgaggaag c.-121
. . . . . . g.5168
gcgggacgcagggcggagccgctgcaggggcggggcctgcggacaggagccggggtttgg c.-61
. . . . . . g.5228
ggcgggaacccctcgtcccctgcagaccccgcctgctcgggcgcgggcggcggcgcggcc c.-1
. . . . . . g.5288
ATGAAGCTGAAGCTGAAGAACGTGTTTCTCGCCTACTTCCTGGTGTCGATCGCCGGCCTC c.60
M K L K L K N V F L A Y F L V S I A G L p.20
. . | 02 . . . . g.6542
CTCTACGCGCTGGTACAGCTCG | GCCAGCCATGTGACTGCCTTCCTCCCCTGCGGGCAGCA c.120
L Y A L V Q L G | Q P C D C L P P L R A A p.40
. . . . . . g.6602
GCCGAGCAGCTACGGCAGAAGGATCTGAGGATTTCCCAGCTGCAAGCGGAACTCCGACGG c.180
A E Q L R Q K D L R I S Q L Q A E L R R p.60
. . . . . . g.6662
CCACCCCCTGCCCCTGCCCAGCCCCCTGAACCCGAGGCCCTGCCTACTATCTATGTTGTT c.240
P P P A P A Q P P E P E A L P T I Y V V p.80
. | 03. . . . . g.9871
ACCCCCACCTATGCCAG | GCTGGTACAGAAGGCAGAGCTGGTACGACTGTCCCAGACACTG c.300
T P T Y A R | L V Q K A E L V R L S Q T L p.100
. . . . . . g.9931
AGCCTGGTGCCCCGGCTGCATTGGCTGCTGGTGGAGGATGCTGAGGGTCCCACCCCGCTG c.360
S L V P R L H W L L V E D A E G P T P L p.120
. . . . . . g.9991
GTCTCAGGGCTGCTGGCTGCCTCTGGCCTCCTCTTCACACACCTGGTGGTCCTCACGCCC c.420
V S G L L A A S G L L F T H L V V L T P p.140
. . . . . . g.10051
AAAGCCCAGCGGCTTCGGGAGGGCGAGCCTGGCTGGGTTCATCCCCGTGGTGTCGAGCAG c.480
K A Q R L R E G E P G W V H P R G V E Q p.160
. . . . . . g.10111
CGGAACAAGGCCCTGGACTGGCTCCGGGGCAGAGGGGGTGCTGTGGGTGGGGAGAAGGAC c.540
R N K A L D W L R G R G G A V G G E K D p.180
. . . . . . g.10171
CCACCACCACCAGGGACCCAAGGAGTCGTCTACTTTGCTGACGATGACAACACCTACAGC c.600
P P P P G T Q G V V Y F A D D D N T Y S p.200
. | 04 . . . . g.10421
CGGGAGCTGTTTGAGGAG | ATGCGCTGGACCCGTGGTGTCTCAGTGTGGCCTGTGGGGCTG c.660
R E L F E E | M R W T R G V S V W P V G L p.220
. . . . . . g.10481
GTGGGCGGCCTGCGATTCGAGGGCCCTCAGGTACAGGACGGCCGGGTAGTGGGCTTCCAC c.720
V G G L R F E G P Q V Q D G R V V G F H p.240
. . . . . . g.10541
ACAGCATGGGAGCCCAGCAGGCCCTTCCCTGTGGATATGGCTGGATTTGCCGTGGCCCTG c.780
T A W E P S R P F P V D M A G F A V A L p.260
. . . . . . g.10601
CCCTTGCTGTTAGATAAGCCCAATGCCCAATTTGATTCCACCGCTCCCCGGGGCCACCTG c.840
P L L L D K P N A Q F D S T A P R G H L p.280
. . . . . . g.10661
GAGAGCAGTCTTCTGAGCCACCTTGTGGATCCCAAGGACCTGGAGCCACGGGCTGCCAAC c.900
E S S L L S H L V D P K D L E P R A A N p.300
| 05 . . . . . g.11427
TGCACTCGG | GTACTGGTGTGGCATACTCGGACAGAGAAGCCCAAGATGAAGCAGGAGGAG c.960
C T R | V L V W H T R T E K P K M K Q E E p.320
. . . . g.11475
CAGCTGCAGCGGCAGGGCCGGGGCTCAGACCCAGCAATTGAGGTGTGA c.1008
Q L Q R Q G R G S D P A I E V X p.335
. . . . . . g.11535
tggcggccccaccccaactaccacctcttttcaggcacagaccttgtgggactgggcccc c.*60
. . . . . . g.11595
aggcctgcccaggatgtggttttccaagtcctgacccttggagccagaagtggcccctct c.*120
. . . . . . g.11655
gcccctccaggcccagggcatggtcctgctgcttcacccctcccctagcctgccgtgtgg c.*180
. . . . . . g.11715
cactgcccacaggctggggacaagcagcccttgtgttgagtcaggttggccctgtctagg c.*240
. . . . . . g.11775
gtggaacagaaggacagatggacccaggagggagggcagctgagtaactgggtaacttat c.*300
. . . . . . g.11835
tggggctgggcatgcactggggggctggaggagctgggctggacccttcccacctgagca c.*360
. . . . g.11880
tgctgacccccttcctacctccagaataaagaatctcaacctgga c.*405
(downstream sequence)
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