(used for mutation description)
(last modified April 17, 2013)
This file was created to facilitate the description of sequence variants in the B3GALNT2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033219.1, covering B3GALNT2 transcript NM_152490.3.
(upstream sequence)
. . . . g.5049
aggcggagggggcggggcttcggccggctaagccgcggccacccgcggt c.-181
. . . . . . g.5109
ctgagggaccggaggagcggggccgggagctgcgaggagccctccagacgtcgccgagcg c.-121
. . . . . . g.5169
cgagggcgggcgtgctcggagtggtcgctcgtcagccgccgcccctcagtctccgcactt c.-61
. . . . . . g.5229
gcaggtcccctccctctccgccgggacgcgggagagcccggctcgcggcgggggcggcca c.-1
. . . . . . g.5289
ATGCGAAACTGGCTGGTGCTGCTGTGCCCGTGTGTGCTCGGGGCCGCGCTGCACCTCTGG c.60
M R N W L V L L C P C V L G A A L H L W p.20
. . . . . | 02 . g.14661
CTGCGGCTGCGCTCCCCGCCGCCCGCCTGCGCCTCCGGGGCCGGCCCTGCAG | ATCAGTTG c.120
L R L R S P P P A C A S G A G P A D | Q L p.40
. . . . . . g.14721
GCCTTATTTCCTCAGTGGAAATCTACTCACTATGATGTGGTAGTTGGCGTGTTGTCAGCT c.180
A L F P Q W K S T H Y D V V V G V L S A p.60
. . . . . . g.14781
CGCAATAACCATGAACTTCGAAACGTGATAAGAAGCACCTGGATGAGACATTTGCTACAG c.240
R N N H E L R N V I R S T W M R H L L Q p.80
. . | 03 . . . . g.20253
CATCCCACATTAAGTCAACG | TGTGCTTGTGAAGTTCATAATAGGTGCTCATGGCTGTGAA c.300
H P T L S Q R | V L V K F I I G A H G C E p.100
. . . . . . g.20313
GTGCCTGTGGAAGACAGGGAAGATCCTTATTCCTGTAAACTACTCAACATCACAAATCCA c.360
V P V E D R E D P Y S C K L L N I T N P p.120
| 04 . . . . . . g.25025
G | TTTTGAATCAGGAAATTGAAGCGTTCAGTCTGTCCGAAGACACTTCATCGGGGCTGCCT c.420
V | L N Q E I E A F S L S E D T S S G L P p.140
. . . . . . g.25085
GAGGATCGAGTTGTCAGCGTGAGTTTCCGAGTTCTCTACCCCATCGTTATTACCAGTCTT c.480
E D R V V S V S F R V L Y P I V I T S L p.160
. . . . . . g.25145
GGAGTGTTCTACGATGCCAATGATGTGGGTTTCCAGAGGAACATCACTGTCAAACTTTAT c.540
G V F Y D A N D V G F Q R N I T V K L Y p.180
. | 05 . . . . . g.29377
CAGGCAGAACAAGAG | GAGGCCCTCTTCATTGCTCGCTTCAGTCCTCCAAGCTGTGGTGTG c.600
Q A E Q E | E A L F I A R F S P P S C G V p.200
. . . . . | 06 . g.38530
CAGGTGAACAAGCTGTGGTACAAGCCCGTGGAACAATTCATCTTACCAGAG | AGCTTTGAA c.660
Q V N K L W Y K P V E Q F I L P E | S F E p.220
. . . . . . g.38590
GGTACAATCGTGTGGGAGAGCCAAGACCTCCACGGCCTTGTGTCAAGAAATCTCCACAAA c.720
G T I V W E S Q D L H G L V S R N L H K p.240
. . . . | 07 . . g.43785
GTGACAGTGAATGATGGAGGGGGAGTTCTCAGAGTCATTACA | GCTGGGGAGGGTGCATTG c.780
V T V N D G G G V L R V I T | A G E G A L p.260
. . . . . . g.43845
CCTCATGAATTCTTGGAAGGTGTGGAGGGAGTTGCAGGTGGTTTTATATATACTATTCAG c.840
P H E F L E G V E G V A G G F I Y T I Q p.280
| 08 . . . . . . g.50754
G | AAGGTGATGCTCTCTTACACAACCTTCATTCTCGCCCTCAAAGACTTATTGATCATATA c.900
E | G D A L L H N L H S R P Q R L I D H I p.300
. . . . . . g.50814
AGGAATCTCCATGAGGAAGATGCCTTACTGAAGGAGGAAAGCAGCATCTATGATGATATT c.960
R N L H E E D A L L K E E S S I Y D D I p.320
. . . . . . g.50874
GTTTTTGTGGATGTTGTCGACACTTATCGTAATGTTCCTGCAAAATTATTGAACTTCTAT c.1020
V F V D V V D T Y R N V P A K L L N F Y p.340
| 09 . . . . . . g.53852
AGATG | GACTGTGGAAACAACGAGCTTCAATTTGTTGCTGAAGACAGATGATGACTGTTAC c.1080
R W | T V E T T S F N L L L K T D D D C Y p.360
. . . . . . g.53912
ATAGACCTCGAAGCTGTATTTAATAGGATTGTCCAAAAGAATCTGGATGGGCCTAATTTT c.1140
I D L E A V F N R I V Q K N L D G P N F p.380
. | 10 . . . . . g.55215
TGGTGGGGAAA | TTTCAGACTGAATTGGGCAGTTGACCGAACCGGAAAGTGGCAGGAGTTG c.1200
W W G N | F R L N W A V D R T G K W Q E L p.400
. . . . . . g.55275
GAGTACCCGAGCCCCGCTTACCCTGCCTTTGCATGTGGGTCAGGATATGTGATCTCCAAG c.1260
E Y P S P A Y P A F A C G S G Y V I S K p.420
. . . . . | 11 . g.56344
GACATCGTCAAGTGGCTGGCAAGCAACTCGGGGAGGTTAAAGACCTATCAG | GGTGAAGAT c.1320
D I V K W L A S N S G R L K T Y Q | G E D p.440
. . . . | 12 . g.59153
GTAAGCATGGGCATCTGGATGGCTGCCATAGGACCTAAAAGATACCAG | GACAGTCTGTGG c.1380
V S M G I W M A A I G P K R Y Q | D S L W p.460
. . . . . . g.59213
CTGTGTGAGAAGACCTGTGAGACAGGAATGCTGTCTTCTCCTCAGTATTCTCCGTGGGAA c.1440
L C E K T C E T G M L S S P Q Y S P W E p.480
. . . . . . g.59273
CTGACGGAACTGTGGAAACTGAAGGAACGGTGCGGTGATCCTTGTCGATGTCAAGCAAGA c.1500
L T E L W K L K E R C G D P C R C Q A R p.500
g.59276
TAA c.1503
X p.500
. . . . . . g.59336
cagggacttgaattagcagagtctaaaatcagggcaggcaaacgataatctgagtgcaag c.*60
. . . . . . g.59396
tctgaggagtcccagggtttagcagtagactgtatggtctttcaagagagttccagactg c.*120
. . . . . . g.59456
gcactttcacccagaaccaatgcggtgtttcttaatgtttgcacaaatttccttaaaaat c.*180
. . . . . . g.59516
caacttgtactgtagcataagaaaagtttttatttatctattggaagattatcagaaaaa c.*240
. . . . . . g.59576
taccaagttattttataaaagaaaaaatatttctaaatcctgatgcattgtggctaatta c.*300
. . . . . . g.59636
gtaattcaccattacctatagtttttggttaaaacttggcctagttcagaaatctgtagt c.*360
. . . . . . g.59696
agtaactgagagtttgaatttcaacctggattgcaggatagctctgtagagctaattagg c.*420
. . . . . . g.59756
ataattatcagacaaaaaggaactcacaggaatgctgtgtgatcatgtgatcacatattt c.*480
. . . . . . g.59816
gagcagtggtcacttataccaaagtttggggtttctggaaataatgtcagattttgtgga c.*540
. . . . . . g.59876
tctctgaagtgggcaacttgaactaacttgaagaggaaccaatatgattctcagttctga c.*600
. . . . . . g.59936
accttggttttaaagaagttcatttatatggtagactaatacccaaattttctttctgcc c.*660
. . . . . . g.59996
atctaacataaatcctgaaggtcacagtttagtactcatagtttttaaatgctaaagttg c.*720
. . . . . . g.60056
tgtgagtatgaataaaagcaaatacctctcagggttttagtgccatcgggaaggatattt c.*780
. . . . . . g.60116
ctaaattttgttgacattttgaaagaattagttttgctttcctcctatcattgcctaatg c.*840
. . . . . . g.60176
tttacctaatatgagtacatttcaatcaaagctggttatcacagaagaagatatactcag c.*900
. . . . . . g.60236
cttaggtataattgtagggaaaagcatgtgattaatttaagtactcttagaaatagtgca c.*960
. . . . . . g.60296
actgagaagacagataatagcatattgttatacatagtagaggatgtctccccaagttta c.*1020
. . . . . . g.60356
agggacatttcccaaaatgaccaaccaaatcatttctagtaaccctttaaaatagtagtt c.*1080
. . . . . . g.60416
tcaatagagaattccattaaaactagtcttatgacagatattaactgtgttcagatttta c.*1140
. . . . . . g.60476
ttaggctagctagtttctttctatttaatatttaaatcttatcatgaaatgcagtgatga c.*1200
. . . . . . g.60536
gctgtaaaaataaatatgaaataagatcagaaaatcattagtaggttcaaagcctttatt c.*1260
. . . . . . g.60596
attgctattatgtataagcctagaaatggtcacttcccaacaaaaaatacatcccttgtt c.*1320
. . . . . . g.60656
atacttaggacaagttgtaaaccccctttgttttgacagtagaattgttccagtgaatca c.*1380
. . . . . . g.60716
tttatttccggtgaaccccagacacgataagcagtgtggtctttaaattttattagttgg c.*1440
. . . . . . g.60776
ttgtcaccatcgcactaatagacaatctccattttccacagaataaaactgtaatgactt c.*1500
. . . . . . g.60836
taggtcattttccagctcgatttctctgcccggcttctaaaattagaacgaaggtgggga c.*1560
. . . . . . g.60896
aggatgtgattaagacagatccgataaagcatgctacacatactcttcccccaccccgtc c.*1620
. . . . . . g.60956
cccaggcagtagcttacccttaaaatcaaacaaacagacccatggtctccatttagaatc c.*1680
. . . . . . g.61016
aaactgttgctatctagagacagtttaatgtcataatacgaggactaagcttgactttga c.*1740
. . . . . . g.61076
ctttgtattttgctgggcaacttactttgggactttcataggacaacagaaggtctgaca c.*1800
. . . . . . g.61136
caggaactttgagaagacgtgacagcaatcccttcaccttttgaattgtcatggagccta c.*1860
. . . . . . g.61196
tcaaaagacaagaaaagtccattcgttctctcaaatgacagttacctgtaaaactagctc c.*1920
. . . . . . g.61256
atgtgatgagaccacagtatcattgcaatgatagctgtatctgtcttttttttttttttt c.*1980
. . . . . . g.61316
tttttgagactgacttacttacttacttaagtaagtcttgctctgtcgcccaggctggag c.*2040
. . . . . . g.61376
tgcaatggtgtaatctcggctcactgcaacctccgcttcccgggttcaaacaattctcct c.*2100
. . . . . . g.61436
gcctcagcctcctgagtagctggtgcccatcaccacacccagctaacttttgtattttta c.*2160
. . . . . . g.61496
gtagagacggggtttcaccatgttggccaggctggtcttgaactcctgacctcgtgatcc c.*2220
. . . . . . g.61556
gcccgccctggccccccaaagtgctgggattacaagcatgagcccagcgcctggctgtat c.*2280
. . . . . . g.61616
ctttcattttacccaagtcactttacccaagtaagtaattaggggaaagcctgagtcttg c.*2340
. . . . . . g.61676
taccacctgttcatttggggaactgtgggaaacggagccaacggacctaagtgccctttg c.*2400
. . . . . . g.61736
acagtgagtttcataccatttcagtagtgtatttctttcttaatctgaataaaccagaat c.*2460
. . . . . . g.61796
gatactctcagcacagaagaataaagggagcgagtcattaacgttttctttttaaacctt c.*2520
. . . . . . g.61856
tatgatgacttccttatgaattactgaacgaacactggaatgggactcaggtatcctgag c.*2580
. . . . . . g.61916
gacatctctcaactctggccttagttccccctctgtaaaattagggtgccaactaaatga c.*2640
. . . . . . g.61976
tctacaaggtcccttccagcgccgccattctgtaattacatcatgtgtaactgtattaaa c.*2700
. . . . . . g.62036
catacacaagtgactgccaggcatgggaatgtaacttccgagtaaatgctttggtttgtt c.*2760
. . . . . . g.62096
cagaatacactatgaacttctttccaaagacgggttgtggtaaatagtggatattttgat c.*2820
. . . . . . g.62156
tataagaaatagagtttccttgaagctttagctggagatacagcaatagtgtggtgttcc c.*2880
. . . . . . g.62216
tacaaatatcacagtgtattcaaacatatttttctatcaaaaatcatttttgtaaaagct c.*2940
. . . . . . g.62276
gtgtgtttttatccaacttgtgataataaatgttctttattttagaataaaaactggcct c.*3000
. g.62292
ttttgtatgtattgaa c.*3016
(downstream sequence)
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