(used for variant description)
(last modified April 22, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001135774.1 in the SYN3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029545.1, covering SYN3 transcript NM_001135774.1.
(upstream sequence)
. . g.5022
gttgaggggcagaggctgagct c.-241
. . . . . . g.5082
cccgggacccggagcggatcgactggcgggcgccgcgccgaggcaccaccgggcgccgag c.-181
. . | 02. . . . g.56610
ttcctggcggctcgcacg | caggtaaataaaggcagctaaagctgactgctggttgcgcaa c.-121
. . . . . . g.56670
aatccccctggctcttctggctaaagtcctaccactccctgtacctggcagcagcctgtc c.-61
. . . . . . g.56730
ttctgggcctcacctacacacgtctgggtaggagccagtcatctccatccatccacagcc c.-1
. . . . . . g.56790
ATGAATTTCCTCCGGCGACGTCTCTCTGACAGCAGCTTCATGGCCAACCTGCCTAATGGC c.60
M N F L R R R L S D S S F M A N L P N G p.20
. . . . . . g.56850
TATATGACGGACCTGCAACGCCCAGATAGCTCCACCAGCTCACCTGCTTCCCCCGCCATG c.120
Y M T D L Q R P D S S T S S P A S P A M p.40
. . . . . . g.56910
GAGAGGAGGCACCCCCAGCCCCTGGCTGCCTCCTTCTCCTCTCCAGGATCCAGCCTTTTT c.180
E R R H P Q P L A A S F S S P G S S L F p.60
. . . . . . g.56970
AGCTCCCTCTCCAGTGCCATGAAGCAGGCCCCTCAGGCCACCTCAGGACTGATGGAGCCT c.240
S S L S S A M K Q A P Q A T S G L M E P p.80
. . . . . . g.57030
CCAGGTCCCTCCACGCCCATTGTTCAAAGACCCAGGATCCTGTTGGTGATCGATGATGCC c.300
P G P S T P I V Q R P R I L L V I D D A p.100
. | 03 . . . . . g.82739
CATACAGACTG | GTCGAAGTATTTCCATGGGAAGAAGGTGAATGGAGAGATTGAGATCCGA c.360
H T D W | S K Y F H G K K V N G E I E I R p.120
| 04 . . . . . g.131962
GTGGAGCAG | GCTGAATTCTCAGAGTTGAACCTAGCTGCCTATGTGACCGGGGGCTGCATG c.420
V E Q | A E F S E L N L A A Y V T G G C M p.140
. . . . | 05 . . g.194287
GTGGACATGCAGGTCGTGAGAAATGGGACCAAAGTGGTGAG | ATCCTTCAAGCCAGACTTC c.480
V D M Q V V R N G T K V V R | S F K P D F p.160
. . . . . . g.194347
ATCCTGGTCCGCCAGCATGCCTACAGCATGGCCCTGGGGGAAGACTACCGCAGCCTGGTC c.540
I L V R Q H A Y S M A L G E D Y R S L V p.180
. . . . . . g.194407
ATCGGCCTGCAGTATGGAGGGCTGCCTGCTGTCAACTCTCTCTACTCCGTCTACAACTTC c.600
I G L Q Y G G L P A V N S L Y S V Y N F p.200
. | 06 . . . . g.198428
TGCAGCAAGCCCTGGGTG | TTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAG c.660
C S K P W V | F S Q L I K I F H S L G P E p.220
. . . . | 07 . g.466667
AAGTTCCCGCTTGTGGAGCAAACATTTTTCCCCAACCATAAGCCAATG | GTCACAGCCCCA c.720
K F P L V E Q T F F P N H K P M | V T A P p.240
. . . . . | 08 . g.521687
CACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAG | ATCAAAGTG c.780
H F P V V V K L G H A H A G M G K | I K V p.260
. . . . . . g.521747
GAAAACCAGCTTGACTTCCAGGACATCACCAGCGTGGTCGCCATGGCCAAAACCTACGCC c.840
E N Q L D F Q D I T S V V A M A K T Y A p.280
. . . . . . g.521807
ACCACCGAGGCCTTCATCGACTCCAAGTACGACATCCGCATCCAGAAAATTGGATCCAAC c.900
T T E A F I D S K Y D I R I Q K I G S N p.300
. | 09 . . . . . g.525327
TACAAGGCTTACAT | GAGAACCTCCATCTCTGGGAACTGGAAGGCCAACACAGGCTCTGCC c.960
Y K A Y M | R T S I S G N W K A N T G S A p.320
. . | 10 . . . g.529527
ATGCTGGAGCAGGTGGCCATGACAGAGAG | GTACAGGCTGTGGGTGGACAGCTGCTCGGAA c.1020
M L E Q V A M T E R | Y R L W V D S C S E p.340
. . . . . . g.529587
ATGTTTGGCGGCCTGGACATCTGTGCCGTCAAGGCTGTCCACAGCAAGGATGGCAGAGAT c.1080
M F G G L D I C A V K A V H S K D G R D p.360
. | 11 . . . . . g.534430
TACATCATCGAG | GTAATGGACAGCTCAATGCCGCTGATTGGAGAGCATGTGGAAGAGGAC c.1140
Y I I E | V M D S S M P L I G E H V E E D p.380
. . . . . . g.534490
AGACAGCTGATGGCCGACCTTGTTGTCTCCAAAATGAGCCAGCTCCCGATGCCAGGAGGC c.1200
R Q L M A D L V V S K M S Q L P M P G G p.400
. . | 12. . . . g.535418
ACAGCGCCCTCCCCCCTCAGACCTTGG | GCTCCACAGATTAAATCAGCGAAATCCCCAGGG c.1260
T A P S P L R P W | A P Q I K S A K S P G p.420
. . . . . | 13 . g.545061
CAAGCCCAGCTGGGGCCTCAGCTAGGCCAGCCCCAGCCACGCCCACCTCCGCAAG | GAGGC c.1320
Q A Q L G P Q L G Q P Q P R P P P Q G | G p.440
. . . . . . g.545121
CCTCGCCAAGCTCAGTCTCCTCAGCCCCAGAGATCTGGAAGCCCCTCCCAACAGAGGCTC c.1380
P R Q A Q S P Q P Q R S G S P S Q Q R L p.460
. . . . . . g.545181
TCCCCACAAGGCCAGCAGCCCCTGAGCCCCCAGTCCGGATCTCCACAGCAGCAAAGGTCA c.1440
S P Q G Q Q P L S P Q S G S P Q Q Q R S p.480
. . . . . . g.545241
CCAGGCTCTCCGCAGCTATCCCGGGCATCCAGTGGCAGCTCCCCAAACCAGGCCTCCAAG c.1500
P G S P Q L S R A S S G S S P N Q A S K p.500
. . . . . . g.545301
CCAGGTGCCACCCTCGCCTCACAGCCCCGGCCCCCTGTGCAGGGCCGTAGTACCTCCCAG c.1560
P G A T L A S Q P R P P V Q G R S T S Q p.520
. . . . | 14. . g.549579
CAGGGTGAAGAGTCCAAGAAGCCAGCACCACCCCATCCGCATCTCAA | CAAATCTCAGTCC c.1620
Q G E E S K K P A P P H P H L N | K S Q S p.540
. . . . . . g.549639
CTGACTAACAGCCTCAGCACATCCGACACCTCCCAGCGTGGGACCCCAAGTGAAGACGAG c.1680
L T N S L S T S D T S Q R G T P S E D E p.560
. . . . . . g.549699
GCCAAGGCTGAAACCATCCGCAACCTGAGGAAGTCTTTTGCCAGCCTGTTCTCTGACTAA c.1740
A K A E T I R N L R K S F A S L F S D X p.579
. . . . . . g.549759
cgccatccaggctgggaggggaagagtgctctgctacactcgtccccctcctgcctcatc c.*60
. . . . . . g.549819
ttccttctcagccttggttcctgatgggaacagaatggagggcctgagaacatactttct c.*120
. . . . . . g.549879
aaatgcctttgacccaggaaccgattatctatatttgttcccattttccttcaccgtgac c.*180
. . . . . . g.549939
attccagcattgtctgactgtgaggtgggcctttgagagcctccaggttcctcaaaacag c.*240
. . . . . . g.549999
gcctgagcgatgggcatcacaccctctgcctacccacgtgcctgcttacctgccagataa c.*300
. . . . . . g.550059
ccaagtgagatgtctgcgagtggctagttttcacattcttactagtgtttggctcacctt c.*360
. . . . . . g.550119
tgggcaaaggccccctctaggccttgccccacctccatcaaacgcagacactgtagtcag c.*420
. . . . . . g.550179
acctcagcaatataggaggcaataatcttttaacagtgttttgcaaacaaacaaaaagag c.*480
. . . . . . g.550239
aaaaatcccagccaggggaactcgccacctgcccacgctagttccatccacgctcaagac c.*540
. . . . . . g.550299
ccgcccttagaccaggcaggcaaaggcccccatcacactcggccactagtggggtcctga c.*600
. . . . . . g.550359
ggccaagaaagaaaccagaccctgtatgacaagtggggtctttcagaacacgacagaaac c.*660
. . . . . . g.550419
aggggggcccttgtaatgccactcatactcagagcattattcttatttggacagccaagg c.*720
. . . . . . g.550479
gcagatcacaggttattgtaggaataaagactagtttacaaaggagaaagaggccctgga c.*780
. . . . . . g.550539
cttcccaaggaaagggtcaggttagggctcctgtacccattctgttccaccactgtttga c.*840
. . . . . . g.550599
tctctctggcctcccaccaggaatgccgtttcctttttatggatctgttgggaaccagag c.*900
. . . . . . g.550659
agaatcaacagatcaatgacataggatccgaagtgcaatgatagtcacttctagtttggc c.*960
. . . . . . g.550719
atttcacaaactctgtacagcaaggtattggtaggttactcaatttcaaaagggccccat c.*1020
. . . . . . g.550779
ggccaaatatgtttaggaaccgctgtttgtatttctttttttggagacgcattgtatata c.*1080
. . . . . . g.550839
atatatgtcaaaggctttcggaattcctgcaggaaagaaatcagctttgttaaatccaaa c.*1140
(downstream sequence)
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