(used for variant description)
(last modified July 8, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_194318.3 in the B3GLCT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011732.1, covering B3GLCT transcript NM_194318.3.
(upstream sequence)
. . . . . g.5050
agagaagggtcagccgcggcggcagggcggcggcggcagcggcgcagctc c.-61
. . . . . . g.5110
cgctccccgcgcgtctcccttccccgcgcccaggtagggcgctcagcctccgccgccagg c.-1
. . . . . . g.5170
ATGCGGCCGCCCGCCTGCTGGTGGCTGCTCGCGCCGCCGGCGCTGCTCGCGCTCCTCACC c.60
M R P P A C W W L L A P P A L L A L L T p.20
. | 02 . . . . . g.20126
TGCTCCCTGG | CTTTTGGTTTGGCTTCTGAAGATACAAAGAAAGAGGTCAAGCAGTCTCAG c.120
C S L A | F G L A S E D T K K E V K Q S Q p.40
| 03 . . . . | 04 . . g.34230
| GATTTGGAGAAAAGTGGTATATCAAGGAAAAATGACATAG | ACTTAAAAGGAATTGTATTC c.180
| D L E K S G I S R K N D I D | L K G I V F p.60
. . . . . . g.34290
GTCATCCAGAGTCAAAGTAATTCTTTTCATGCAAAGAGAGCAGAGCAGTTAAAAAAAAGC c.240
V I Q S Q S N S F H A K R A E Q L K K S p.80
. . . | 05 . . . g.52078
ATCTTAAAGCAGGCTGCAGATCTTACACAG | GAGCTCCCCAGTGTCCTCCTCCTTCATCAG c.300
I L K Q A A D L T Q | E L P S V L L L H Q p.100
. . . . | 06. . g.52893
CTGGCTAAACAAGAAGGTGCATGGACCATACTTCCGTTGTTACCGCA | TTTTTCTGTAACA c.360
L A K Q E G A W T I L P L L P H | F S V T p.120
. . . . . . g.52953
TATAGCAGAAATTCATCTTGGATTTTCTTCTGTGAAGAAGAGACAAGAATACAGATTCCA c.420
Y S R N S S W I F F C E E E T R I Q I P p.140
. . . | 07 . . g.65992
AAACTCTTGGAAACCCTCAGAAGATATGACCCCTCTAAG | GAATGGTTTTTGGGAAAAGCA c.480
K L L E T L R R Y D P S K | E W F L G K A p.160
. . . . . . g.66052
TTACATGATGAAGAAGCTACAATAATTCACCATTATGCCTTTTCCGAGAATCCTACAGTT c.540
L H D E E A T I I H H Y A F S E N P T V p.180
. . . . . | 08 . g.74243
TTTAAGTATCCAGACTTTGCTGCAGGCTGGGCCTTAAGTATTCCACTTGTAAACAA | GCTT c.600
F K Y P D F A A G W A L S I P L V N K | L p.200
. . . . . . g.74303
ACCAAGAGACTAAAGAGTGAATCCTTGAAATCCGACTTTACAATAGATTTAAAACATGAG c.660
T K R L K S E S L K S D F T I D L K H E p.220
| 09 . . . . . . g.79594
| ATTGCCCTCTACATCTGGGACAAAGGCGGAGGACCTCCCCTGACCCCAGTGCCTGAGTTT c.720
| I A L Y I W D K G G G P P L T P V P E F p.240
. . . . . . g.79654
TGTACCAATGACGTGGACTTCTACTGTGCTACCACATTCCATTCTTTTCTACCGCTTTGT c.780
C T N D V D F Y C A T T F H S F L P L C p.260
| 10 . . . . . . g.81787
| AGAAAGCCAGTGAAGAAGAAGGATATTTTTGTTGCAGTAAAAACATGCAAGAAATTTCAT c.840
| R K P V K K K D I F V A V K T C K K F H p.280
. | 11 . . . . . g.89723
GGTGACAGAA | TACCTATTGTTAAGCAGACTTGGGAGAGCCAGGCAAGTCTCATTGAATAC c.900
G D R I | P I V K Q T W E S Q A S L I E Y p.300
. . . . . . g.89783
TATAGTGACTATACTGAAAATTCCATTCCTACTGTGGATTTGGGAATTCCTAATACAGAT c.960
Y S D Y T E N S I P T V D L G I P N T D p.320
| 12 . . . . . . g.91801
AGAG | GTCATTGTGGAAAGACATTTGCCATTTTGGAAAGATTTCTGAATCGTAGCCAGGAC c.1020
R G | H C G K T F A I L E R F L N R S Q D p.340
. . . . | 13 . . g.122607
AAAACAGCATGGTTAGTCATTGTGGATGATGATACATTAATAAG | TATCTCCAGGCTCCAG c.1080
K T A W L V I V D D D T L I S | I S R L Q p.360
. . . . . . g.122667
CACTTGCTTAGCTGTTATGACTCCGGCGAGCCTGTGTTTCTGGGAGAGCGCTACGGCTAC c.1140
H L L S C Y D S G E P V F L G E R Y G Y p.380
. . . . | 14 . . g.128792
GGCCTGGGCACTGGTGGCTACAGCTACATCACGGGAGGAGGAGG | AATGGTCTTCAGCAGA c.1200
G L G T G G Y S Y I T G G G G | M V F S R p.400
. . . . . . g.128852
GAAGCCGTCAGGAGACTTCTCGCCAGTAAATGTCGATGCTACAGCAATGATGCTCCCGAT c.1260
E A V R R L L A S K C R C Y S N D A P D p.420
. . . . . . g.128912
GATATGGTCCTGGGAATGTGCTTTAGTGGCTTGGGAATCCCTGTGACACACAGCCCTCTC c.1320
D M V L G M C F S G L G I P V T H S P L p.440
| 15 . . . . . g.134577
TTCCATCAG | GCTCGGCCGGTGGATTACCCTAAGGACTACCTTTCTCATCAAGTTCCCATA c.1380
F H Q | A R P V D Y P K D Y L S H Q V P I p.460
. . . . . . g.134637
TCGTTCCACAAACACTGGAACATCGATCCAGTGAAGGTGTATTTCACATGGTTGGCACCC c.1440
S F H K H W N I D P V K V Y F T W L A P p.480
. . . . . g.134694
AGTGACGAAGACAAAGCCAGGCAGGAGACACAGAAAGGTTTTCGAGAGGAGTTATAA c.1497
S D E D K A R Q E T Q K G F R E E L X p.498
. . . . . . g.134754
atcagggtgacctgtgcgcctagcctgcgcagggaatgaactggagactgtggcctcatc c.*60
. . . . . . g.134814
ccactgtgctgtgctcacaacacttgtgtctgccacatggcattgggtgcttcctgactt c.*120
. . . . . . g.134874
tagggggagattttatgtatggtattttttgacagaggaagaaaaggggtcacaggagaa c.*180
. . . . . . g.134934
acatttttttttctgggaaaaatcacttgcttttgacttatgcagttgttttaacactta c.*240
. . . . . . g.134994
gtgatgactgtgtattctccaagctgtgatacagcagtttttttttattgtcacagggaa c.*300
. . . . . . g.135054
ataaatggtaccagaagtccctttcctgttctgtctcttcattgtaatggaagtttcagt c.*360
. . . . . . g.135114
tgggcatgagcctggagagatgtgactgtctacagttctatttgtatatataaaaagaag c.*420
. . . . . . g.135174
actgaaagtcttttgacatggatattgtgaatggtatgaacttttaaaccatattattga c.*480
. . . . . . g.135234
tgatgaaaattatttcctgggaactcagtaggaataataccgtattaaggaataatactg c.*540
. . . . . . g.135294
tacataaaacatcatgaaaccctagatatgaaatcccctgaagtctgtaatcatggtggt c.*600
. . . . . . g.135354
tatgttttgtctattcttttgctgtttgtgcctcataaaaagagaatgaggtcttctgct c.*660
. . . . . . g.135414
agagcttcgtattgctttggaagttcatctgtgttttatttctccctgaagccctatctt c.*720
. . . . . . g.135474
tatggcttacttgtaacatgaaagtagtagatgctgccagaaaatagtgtcctcaatatt c.*780
. . . . . . g.135534
ttaaaacaatgttgacatgttttgttcaagtcagcaagctctatgtgagtctcaggaagt c.*840
. . . . . . g.135594
gaattaaatttggaccttatgttttactcttgttttttttttttttttaaatgttactta c.*900
. . . . . . g.135654
atgactctctcctgactcaggagagaaaccccttgtggaaggacagcatggtgatcaggc c.*960
. . . . . . g.135714
aatttctctgggttcccaaagaatgacatttgaacacagtattttgaaacagctctagtt c.*1020
. . . . . . g.135774
ttcaaattatatctttaatatatagtaatgtaacatattcagtattaatgtataaaaagc c.*1080
. . . . . . g.135834
actctaattatataattcagtttttgtaaaggtatttgcataaaatttaatatgtcttaa c.*1140
. . . . . . g.135894
actaattttggtaaattacttcttttttttctttttaataaaaactgttactcattaact c.*1200
. . . . . . g.135954
ttgcttataatgctttttatagcccagcacagaatttaaagccataccaccaaaagtacc c.*1260
. . . . . . g.136014
tgtgtgtgttaatatgtttttcttgtagcatagattgactatttgcaatagtattagtat c.*1320
. . . . . . g.136074
ttaccatttttccaaattagcaactaccagacctcacgtgttgcagtgataacacaatgc c.*1380
. . . . . . g.136134
attggattcagttttgtgaaaatggattctgtggccatccaagggatgtatcagggatga c.*1440
. . . . . . g.136194
tcagctgatgagaggctccagaaggatttctagatcgcttcaagcctatactgatggcct c.*1500
. . . . . . g.136254
tagctttgttcagtcattgtaactgggattgttgtcattgctaccgtggtagtcaccttc c.*1560
. . . . . . g.136314
atgtcatctataatagtactcctggagagccctggctgcctacaccagtggaaaagagtc c.*1620
. . . . . . g.136374
tccagttctgctctggcctactaactgttaccactgagagaacaacatgttcatttgaca c.*1680
. . . . . . g.136434
tgattgaagctggcatccgtatatgaagatccttgtcaagctttcttctgtggtctgatt c.*1740
. . . . . . g.136494
agtgccttctactgataccggggcacctcctctggtacttttaagtgttttgttaattat c.*1800
. . . . . . g.136554
atttactttttggaatggtgtaagcctaaccacaagtaaaagatctttgcctaagttttt c.*1860
. . . . . . g.136614
gatttctcaaatattgtgttcattagtctagactgggaatggggaggggaaatggggaaa c.*1920
. . . . . . g.136674
atgaatgaatgaaatcagaaaaaagtcagcggctcagtaaatacagtttaaagagagaat c.*1980
. . . . . . g.136734
aattacttcagagctacccttttaagagaaaaccatcagaaattgataatgtttatataa c.*2040
. . . . . . g.136794
agtttataaagccattgtgttttgttatataacaaatcagagatgttattttagaatcga c.*2100
. . . . . . g.136854
ttcccatctaaagaactcaattttgagtctgacatttccaggaccagatattgtcttact c.*2160
. . . . . . g.136914
cacatttcctttgctttgaaatagggctttccttccaaatggctatttttaggctaggga c.*2220
. . . . . . g.136974
tgttaacatcagggatttgtgtgtggaataactggaatgtcatttttgcttttaagccat c.*2280
. . . . . . g.137034
ttctgatgatatagccaaagcaggttgtctgactatgtaggatttttacatcttgaaact c.*2340
. . . . . . g.137094
aaatcagaaatccagacatgaaaataacctttctagaatgcctaggagcagaaaacaata c.*2400
. . . . . . g.137154
atagcatgctaaatcacaaatgatgctatgtatgggtatgtaaatatcagtgctgtctgc c.*2460
. . . . . . g.137214
atttctgggtttattgaagacctcttgttgtatatatcctcaaaaattaatgtaattgac c.*2520
. . . . . . g.137274
atcttcaagaatgtttctattgtcttccattcataatcagagatgtaatttgtatggact c.*2580
. . g.137302
aaataaaaactttattatgtaatgaaaa c.*2608
(downstream sequence)
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