(used for variant description)
(last modified March 17, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_174963.3 in the ST3GAL3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028196.1, covering ST3GAL3 transcript NM_174963.3.
(upstream sequence)
. g.5011
gccgctgcgtc c.-181
. . . . . . g.5071
cccactatggcggcgcccatgcagcccagcgcgttgtgggctcccgccggggtcccccgc c.-121
. . . . . . g.5131
ggctgtcgccgccgcctacgccgctgcctccgccttcctgccccgcgtcgggccgggcgc c.-61
. . . | 02 . . g.33730
cacctcccccctgcctccctctccgctgtg | gtcatttaggaaatcgtaaatcatgtgaag c.-1
. . . . . . g.33790
ATGGGACTCTTGGTATTTGTGCGCAATCTGCTGCTAGCCCTCTGCCTCTTTCTGGTACTG c.60
M G L L V F V R N L L L A L C L F L V L p.20
. . . . . . g.33850
GGATTTTTGTATTATTCTGCGTGGAAGCTACACTTACTCCAGTGGGAGGAGGACTCCAGT c.120
G F L Y Y S A W K L H L L Q W E E D S S p.40
. . . . | 03 . . g.89586
AAGTATAGTCACTCTAGCTCACCCCAGGAGAAGCCTGTTGCAG | ATTCAGTGGTTCTTTCC c.180
K Y S H S S S P Q E K P V A D | S V V L S p.60
. . . | 04 . . . g.112388
TTTGACTCCGCTGGACAAACACTAGGCTCAG | AGTATGATCGGTTGGGCTTCCTCCTGAAT c.240
F D S A G Q T L G S E | Y D R L G F L L N p.80
. | 05 . . . . . g.122245
CTGGACTCTAAACT | CTCACCGAGGACTCTCTGCACGGTGGTTTTTGGCCTTGACTGCATA c.300
L D S K L | S P R T L C T V V F G L D C I p.100
. . . . . . g.122305
TTGGAATCACCTGGAGAGCCTAAAAAATTACTGATGCCTGCATCCCACCCTCTAGAGATT c.360
L E S P G E P K K L L M P A S H P L E I p.120
. . . . . | 06 . g.135691
TTGAAGTCACTGAGCGAGGACACAGCCTTTGCATTAGGATTTTTAAAGCTGCCCAG | GCCT c.420
L K S L S E D T A F A L G F L K L P R | P p.140
. . . . . . g.135751
GCTGAATTAGCCACCAAGTACGCAAACTTTTCAGAGGGAGCTTGCAAGCCTGGCTATGCT c.480
A E L A T K Y A N F S E G A C K P G Y A p.160
. . | 07 . . . g.191882
TCAGCCTTGATGACGGCCATCTTCCCCCG | GTTCTCCAAGCCAGCACCCATGTTCCTGGAT c.540
S A L M T A I F P R | F S K P A P M F L D p.180
. . . . . . g.191942
GACTCCTTTCGCAAGTGGGCTAGAATCCGGGAGTTCGTGCCGCCTTTTGGGATCAAAGGT c.600
D S F R K W A R I R E F V P P F G I K G p.200
| 08 . . . . . . g.195759
CAAG | ACAATCTGATCAAAGCCATCTTGTCAGTCACCAAAGAGTACCGCCTGACCCCTGCC c.660
Q D | N L I K A I L S V T K E Y R L T P A p.220
| 09 . . . . . g.196688
TTGGACAG | CCTCCGCTGCCGCCGCTGCATCATCGTGGGCAATGGAGGCGTTCTTGCCAAC c.720
L D S | L R C R R C I I V G N G G V L A N p.240
. . . . | 10 . . g.197025
AAGTCTCTGGGGTCACGAATTGACGACTATGACATTGTGGTGAG | ACTGAATTCAGCACCA c.780
K S L G S R I D D Y D I V V R | L N S A P p.260
. . . . . . g.197085
GTGAAAGGCTTTGAGAAGGACGTGGGCAGCAAAACGACACTGCGCATCACCTACCCCGAG c.840
V K G F E K D V G S K T T L R I T Y P E p.280
. . . . . . g.197145
GGCGCCATGCAGCGGCCTGAGCAGTACGAGCGCGATTCTCTCTTTGTCCTCGCCGGCTTC c.900
G A M Q R P E Q Y E R D S L F V L A G F p.300
. . . . . | 11 . g.217881
AAGTGGCAGGACTTTAAGTGGTTGAAATACATCGTCTACAAGGAGAGAGTG | AGTGCATCG c.960
K W Q D F K W L K Y I V Y K E R V | S A S p.320
. . . . . . g.217941
GATGGCTTCTGGAAATCTGTGGCCACTCGAGTGCCCAAGGAGCCCCCTGAGATTCGAATC c.1020
D G F W K S V A T R V P K E P P E I R I p.340
. . . . . . g.218001
CTCAACCCATATTTCATCCAGGAGGCCGCCTTCACCCTCATTGGCCTGCCCTTCAACAAT c.1080
L N P Y F I Q E A A F T L I G L P F N N p.360
. | 12 . . . . g.218292
GGCCTCATGGGCCGGGGG | AACATCCCTACCCTTGGCAGTGTGGCAGTGACCATGGCACTA c.1140
G L M G R G | N I P T L G S V A V T M A L p.380
. . . . . . g.218352
CACGGCTGTGACGAGGTGGCAGTCGCAGGATTTGGCTATGACATGAGCACACCCAACGCA c.1200
H G C D E V A V A G F G Y D M S T P N A p.400
. . . . | 13 . . g.227615
CCCCTGCACTACTATGAGACCGTTCGCATGGCAGCCATCAAAGAG | TCCTGGACGCACAAT c.1260
P L H Y Y E T V R M A A I K E | S W T H N p.420
. . . . . . g.227675
ATCCAGCGAGAGAAAGAGTTTCTGCGGAAGCTGGTGAAAGCTCGCGTCATCACTGATCTA c.1320
I Q R E K E F L R K L V K A R V I T D L p.440
. g.227690
AGCAGTGGCATCTGA c.1335
S S G I X p.444
. . . . . . g.227750
gtgggcccagcacatggccatagaggcccaggcaccaccaggagcagcagccagcaccac c.*60
. . . . . . g.227810
ctacacaggagtcttcagacccagagaaggacggtgccaagggccccaggggcagcaagg c.*120
. . . . . . g.227870
ccttggtggagcagccagagctgtgcctgctcagcagccagtctcagagaccagcactca c.*180
. . . . . . g.227930
gcctcattcagcatgggtccttgatgccagagggccagcaggctcctggctgtgcccagc c.*240
. . . . . . g.227990
aggcccagcatgcaggtggtgggacactgggcagcaaggctgctgccggaatcacttctc c.*300
. . . . . . g.228050
caatcagtgtttggtgtattatcattttgtgaatttgggtaggggggagggtagggataa c.*360
. . . . . . g.228110
tttatttttaaataaggttggagatgtcaagttgggttcacttgccatgcaggaagaggc c.*420
. . . . . . g.228170
ccactagagggcccatcaggcagtgttacctgttagctccctgtggggcaggagtgccag c.*480
. . . . . . g.228230
gaccagcctgtaccttgctgtggggctacaggatggtgggcaggatctcaagccagcccc c.*540
. . . . . . g.228290
ctccagctcatgacactgtttggcctttcttggggagaaggcggggtattcccactcacc c.*600
. . . . . . g.228350
agccctagctgtcccatggggaaaccctggagccatcccttcggagccaacaagaccgcc c.*660
. . . . . . g.228410
ccagggctatagcagaaagaactttaaagctcaggagggtgacgcccagctccgcctgct c.*720
. . . . . . g.228470
gggaagagctcccctccacagctgcagctgatccataggactaccgcaggcccggactca c.*780
. . . . . . g.228530
ccaacttgccacatgttctaggtttcagcaacaagactgccaggtggttgggttctgcct c.*840
. . . . . . g.228590
ttagcctggaccaaagggaagtgaggcccaaggagcttacccaagctgtggcagccgtcc c.*900
. . . . g.228634
caggccacccccatggaagcaataaagctcttccctgagcctgg c.*944
(downstream sequence)
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