(used for variant description)
(last modified December 22, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_003165.3 in the STXBP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016623.1, covering STXBP1 transcript NM_003165.3.
(upstream sequence)
. g.5017
cccgcgcgcgccggcgg c.-181
. . . . . . g.5077
cggggcagcctcgctctggctcgcgccgcgcccccgcgcccagtccgcgcgtcagtcggt c.-121
. . . . . . g.5137
ccctagcgcggctgcggggcggagagctgcggctggcccagcgcgcccacctgaggaggc c.-61
. . . . . . g.5197
ggcggggtccgcaggcgtcgcgggacgaggagatcggagccgggagactcgcgcagcgcc c.-1
. . . | 02. . . g.44419
ATGGCCCCCATTGGCCTCAAAGCTGTTGTCGGAGAGA | AGATTATGCATGATGTGATAAAG c.60
M A P I G L K A V V G E K | I M H D V I K p.20
. . | 03. . . . g.46541
AAGGTCAAGAAGAAGGGGGAATGGAAG | GTGCTGGTGGTGGATCAGTTAAGCATGAGGATG c.120
K V K K K G E W K | V L V V D Q L S M R M p.40
. . . . | 04 . g.51179
CTGTCCTCCTGCTGCAAGATGACAGACATCATGACCGAGGGCATAACGA | TTGTGGAAGAT c.180
L S S C C K M T D I M T E G I T I | V E D p.60
. . . . . . g.51239
ATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCC c.240
I N K R R E P L P S L E A V Y L I T P S p.80
| 05 . . . . . . g.52877
GAGAAG | TCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGG c.300
E K | S V H S L I S D F K D P P T A K Y R p.100
. . | 06 . . . . g.53930
GCTGCACACGTCTTCTTCACTGACT | CTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAA c.360
A A H V F F T D S | C P D A L F N E L V K p.120
. . . . . . g.53990
TCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTAT c.420
S R A A K V I K T L T E I N I A F L P Y p.140
| 07 . . . . . g.56049
GAATCCCAG | GTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCAC c.480
E S Q | V Y S L D S A D S F Q S F Y S P H p.160
. . . . . . g.56109
AAGGCTCAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAGATCGCGACCCTTTGT c.540
K A Q M K N P I L E R L A E Q I A T L C p.180
. . . | 08 . . g.58062
GCCACCCTGAAGGAGTACCCGGCTGTGCGGTATCGGGG | GGAATACAAGGACAATGCCCTG c.600
A T L K E Y P A V R Y R G | E Y K D N A L p.200
. . . . . . g.58122
CTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGG c.660
L A Q L I Q D K L D A Y K A D D P T M G p.220
| 09 . . . . . . g.59016
GAG | GGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGC c.720
E | G P D K A R S Q L L I L D R G F D P S p.240
. . . . . . g.59076
TCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAA c.780
S P V L H E L T F Q A M S Y D L L P I E p.260
. | 10 . . . . . g.60919
AATGATGTATACAA | GTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTC c.840
N D V Y K | Y E T S G I G E A R V K E V L p.280
. . . . . . g.60979
CTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCC c.900
L D E D D D L W I A L R H K H I A E V S p.300
| 11 . . . . . . g.62749
CA | GGAAGTCACCCGGTCTCTGAAAGATTTTTCTTCTAGCAAGAGAATGAATACTGGAGAG c.960
Q | E V T R S L K D F S S S K R M N T G E p.320
| 12 . . . . . . g.64901
AAG | ACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAG c.1020
K | T T M R D L S Q M L K K M P Q Y Q K E p.340
| 13 . . . . . g.66025
CTCAGCAAG | TACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGC c.1080
L S K | Y S T H L H L A E D C M K H Y Q G p.360
. . . | 14 . . . g.68627
ACCGTAGACAAACTCTGCCGAGTGGAGCAG | GACCTGGCCATGGGCACAGATGCTGAGGGA c.1140
T V D K L C R V E Q | D L A M G T D A E G p.380
. . . . . . g.68687
GAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGC c.1200
E K I K D P M R A I V P I L L D A N V S p.400
. . . . | 15 . g.69448
ACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATG | GCATCACGGAG c.1260
T Y D K I R I I L L Y I F L K N G | I T E p.420
. . . . . . g.69508
GAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATC c.1320
E N L N K L I Q H A Q I P P E D S E I I p.440
. . . | 16 . . g.71245
ACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGAT | TCCACGCTGCGTCGCCGGAGC c.1380
T N M A H L G V P I V T D | S T L R R R S p.460
. . . . . . g.71305
AAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCG c.1440
K P E R K E R I S E Q T Y Q L S R W T P p.480
. . | 17 . . . . g.72989
ATTATCAAGGACATCATGGAG | GACACTATTGAGGACAAACTTGACACCAAACACTACCCT c.1500
I I K D I M E | D T I E D K L D T K H Y P p.500
. . . . | 18. . g.75212
TATATCTCTACCCGTTCCTCTGCCTCCTTCAGCACCACCGCCGTCAG | CGCCCGCTATGGG c.1560
Y I S T R S S A S F S T T A V S | A R Y G p.520
. . . . . . g.75272
CACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTC c.1620
H W H K N K A P G E Y R S G P R L I I F p.540
. . . . . . g.75332
ATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAAC c.1680
I L G G V S L N E M R C A Y E V T Q A N p.560
. . | 19 . . . . g.77199
GGAAAGTGGGAGGTGCTGATAG | GTTCTACTCACATTCTTACTCCCACCAAATTTCTCATG c.1740
G K W E V L I G | S T H I L T P T K F L M p.580
. . . . . . g.77259
GACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCA c.1800
D L R H P D F R E S S R V S F E D Q A P p.600
. g.77271
ACAATGGAGTGA | c.1813
T M E X p.603
. | 20 . . . . . g.83612
gagccaaagaaacaaa | gatccacacacatcctcaccccacagaaactgctggacacactg c.*60
. . . . . . g.83672
aagaaactgaataaaacagatgaagaaataagcagttaaaaaaataagtcgcccctccaa c.*120
. . . . . . g.83732
aacacgcccccatcccacagcgctccgcagcttcccaccaccgcccgcctcagttccttt c.*180
. . . . . . g.83792
gcgtctgttgcctccccagccctgcacgccctggctggcactgttgccgctgcattctcg c.*240
. . . . . . g.83852
tgttcagtgatgccctcttcttgtttgaaacaaaagaaaataatgcattgtgttttttaa c.*300
. . . . . . g.83912
aaagagtatcttatacatgtatcctaaaaagagaagctcatgtgcaattggtgcacagca c.*360
. . . . . . g.83972
ggagaaatttctggactgttaggatgaatggacgccttctccccgttatttaagatttgt c.*420
. . . . . . g.84032
gaccttgtacataaccctgggtgacgtgcacattgcttgggtatggaacggtagaaattt c.*480
. . . . . . g.84092
gggtgtttttaaaaccttgtttggggttgttcctgtccttgttgagaatcatagagatgt c.*540
. . . . . . g.84152
ctgtgttcttggagtatttcacactgaggactaatctgctatcttcattccagtccctac c.*600
. . . . . . g.84212
ccctcagtgcctgctctcatccaaataacctgggaggtgacaatcaggatatctcaggag c.*660
. . . . . . g.84272
gtccaaggtggaacagacctctttgcctttcccagcgtctcatacccccggtagtgcagc c.*720
. . . . . . g.84332
tgtgggtggaggctggggtgtctgcacgaagtcaggccagcgtcctcctccacagcctgt c.*780
. . . . . . g.84392
cactgccccctccccagcctgtgtccacagtgctgtgatcccgagggaagtcctccagtc c.*840
. . . . . . g.84452
taagtcacagtgccctgacaggtgagaagcaaactcccgctggaagcctccatctctttg c.*900
. . . . . . g.84512
gaaaaacagttagtctggagcctgtggcccaggcccttctgtccccaggcatcatcccaa c.*960
. . . . . . g.84572
cagctcattttccctagtccgccttcgttcaagggtcaggaatggaccagaacagatggg c.*1020
. . . . . . g.84632
ttctggaggcccctgaacagagggctatggctgtggagaaggttcttggcccgttggact c.*1080
. . . . . . g.84692
cacacagaccctgtaccctctcggcaagcatcttcagtcagattatcctcagtttcagat c.*1140
. . . . . . g.84752
acttcataataccttgtgttgtgtggggtcatacatcatcgtgtttgtaagagaagatgg c.*1200
. . . . . . g.84812
tcattttattctctgtataaaacttagctctaaagcagaaactaaagcagcaaatgcagg c.*1260
. . . . . . g.84872
aaggctgtctcgccatcctcaagactcagcagctctcattctccagtggtgagcacacca c.*1320
. . . . . . g.84932
tttgtgctgctgctgttgtcgtgaaatataataacagtggaagtcacaaaaatgtcccct c.*1380
. . . . . . g.84992
gcccagccccctcgccgcccttgacctcctgcaggccatgtgtgtattacttgtctagtg c.*1440
. . . . . . g.85052
atgtcctctcaaagtgctgtacgcgagctcggcgccacctccgcctccctttcagagcct c.*1500
. . . . . . g.85112
gctccccgccctctctgctcgctgcattgtggtgttctcttctcaaggctttgaaatctc c.*1560
. . . . . . g.85172
cccttgcactgagattagtcgtcagatctctccccgtctccctcccaacttatacgacct c.*1620
. . . . . . g.85232
gatttccttaggacggaaccgcaggcacctgcgccgggcgtcttactcccgctgcttgtt c.*1680
. . . . . . g.85292
ctgtcccctccctcggaccaaacagtgctcatgcttcaggaccttgtttgtcgaagatgt c.*1740
. . . . . . g.85352
tggtttccctttctctgttatttatataaaaataatttatcaaaaggatattttaaaaaa c.*1800
. . . . . . g.85412
gctagtctgtcttgaaacttgtttaccttaaaattatcagaatctcagtgtttgaaagta c.*1860
. . . . . . g.85472
ctgaagcacaaacatatatcatctctgtaccattctgtactaaagcacttgagtctaata c.*1920
. . . g.85510
aataaagaaatcagcaccccttcccggtgtccaggggg c.*1958
(downstream sequence)
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