(used for variant description)
(last modified July 6, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001044.4 in the SLC6A3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015885.1, covering SLC6A3 transcript NM_001044.4.
(upstream sequence)
g.5006
cgctgc c.-121
. . . . . . g.5066
ggagcgggaggggaggcttcgcggaacgctctcggcgccaggactcgcgtgcaaagccca c.-61
. . | 02 . . . . g.7231
ggcccgggcggccag | accaagagggaagaagcacagaattcctcaactcccagtgtgccc c.-1
. . . . . . g.7291
ATGAGTAAGAGCAAATGCTCCGTGGGACTCATGTCTTCCGTGGTGGCCCCGGCTAAGGAG c.60
M S K S K C S V G L M S S V V A P A K E p.20
. . . . . . g.7351
CCCAATGCCGTGGGCCCGAAGGAGGTGGAGCTCATCCTTGTCAAGGAGCAGAACGGAGTG c.120
P N A V G P K E V E L I L V K E Q N G V p.40
. . . . . . g.7411
CAGCTCACCAGCTCCACCCTCACCAACCCGCGGCAGAGCCCCGTGGAGGCCCAGGATCGG c.180
Q L T S S T L T N P R Q S P V E A Q D R p.60
. . . . . . g.7471
GAGACCTGGGGCAAGAAGATCGACTTTCTCCTGTCCGTCATTGGCTTTGCTGTGGACCTG c.240
E T W G K K I D F L L S V I G F A V D L p.80
. . . . | 03 . . g.8952
GCCAACGTCTGGCGGTTCCCCTACCTGTGCTACAAAAATGGTGGCG | GTGCCTTCCTGGTC c.300
A N V W R F P Y L C Y K N G G G | A F L V p.100
. . . . . . g.9012
CCCTACCTGCTCTTCATGGTCATTGCTGGGATGCCACTTTTCTACATGGAGCTGGCCCTC c.360
P Y L L F M V I A G M P L F Y M E L A L p.120
. . . . . | 04 g.17732
GGCCAGTTCAACAGGGAAGGGGCCGCTGGTGTCTGGAAGATCTGCCCCATACTGAAAG | GT c.420
G Q F N R E G A A G V W K I C P I L K G | p.140
. . . . . . g.17792
GTGGGCTTCACGGTCATCCTCATCTCACTGTATGTCGGCTTCTTCTACAACGTCATCATC c.480
V G F T V I L I S L Y V G F F Y N V I I p.160
. . . . . . g.17852
GCCTGGGCGCTGCACTATCTCTTCTCCTCCTTCACCACGGAGCTCCCCTGGATCCACTGC c.540
A W A L H Y L F S S F T T E L P W I H C p.180
. . . . . . g.17912
AACAACTCCTGGAACAGCCCCAACTGCTCGGATGCCCATCCTGGTGACTCCAGTGGAGAC c.600
N N S W N S P N C S D A H P G D S S G D p.200
. . . . . | 05 . g.28421
AGCTCGGGCCTCAACGACACTTTTGGGACCACACCTGCTGCCGAGTACTTTGA | ACGTGGC c.660
S S G L N D T F G T T P A A E Y F E | R G p.220
. . . . . . g.28481
GTGCTGCACCTCCACCAGAGCCATGGCATCGACGACCTGGGGCCTCCGCGGTGGCAGCTC c.720
V L H L H Q S H G I D D L G P P R W Q L p.240
. . . . . . g.28541
ACAGCCTGCCTGGTGCTGGTCATCGTGCTGCTCTACTTCAGCCTCTGGAAGGGCGTGAAG c.780
T A C L V L V I V L L Y F S L W K G V K p.260
. | 06 . . . . . g.29773
ACCTCAGGGAAG | GTGGTATGGATCACAGCCACCATGCCATACGTGGTCCTCACTGCCCTG c.840
T S G K | V V W I T A T M P Y V V L T A L p.280
. . . . . . g.29833
CTCCTGCGTGGGGTCACCCTCCCTGGAGCCATAGACGGCATCAGAGCATACCTGAGCGTT c.900
L L R G V T L P G A I D G I R A Y L S V p.300
. . | 07. . . . g.34260
GACTTCTACCGGCTCTGCGAGGCGTCT | GTTTGGATTGACGCGGCCACCCAGGTGTGCTTC c.960
D F Y R L C E A S | V W I D A A T Q V C F p.320
. . . . . . g.34320
TCCCTGGGCGTGGGGTTCGGGGTGCTGATCGCCTTCTCCAGCTACAACAAGTTCACCAAC c.1020
S L G V G F G V L I A F S S Y N K F T N p.340
. | 08 . . . . . g.35662
AACTGCTACAG | GGACGCGATTGTCACCACCTCCATCAACTCCCTGACGAGCTTCTCCTCC c.1080
N C Y R | D A I V T T S I N S L T S F S S p.360
. . . . . . g.35722
GGCTTCGTCGTCTTCTCCTTCCTGGGGTACATGGCACAGAAGCACAGTGTGCCCATCGGG c.1140
G F V V F S F L G Y M A Q K H S V P I G p.380
. | 09 . . . . . g.39117
GACGTGGCCAAGGACG | GGCCAGGGCTGATCTTCATCATCTACCCGGAAGCCATCGCCACG c.1200
D V A K D G | P G L I F I I Y P E A I A T p.400
. . . . . . g.39177
CTCCCTCTGTCCTCAGCCTGGGCCGTGGTCTTCTTCATCATGCTGCTCACCCTGGGTATC c.1260
L P L S S A W A V V F F I M L L T L G I p.420
| 10 . . . . . g.40630
GACAGCGCC | ATGGGTGGTATGGAGTCAGTGATCACCGGGCTCATCGATGAGTTCCAGCTG c.1320
D S A | M G G M E S V I T G L I D E F Q L p.440
. . . . . . g.40690
CTGCACAGACACCGTGAGCTCTTCACGCTCTTCATCGTCCTGGCGACCTTCCTCCTGTCC c.1380
L H R H R E L F T L F I V L A T F L L S p.460
. | 11 . . . . g.41345
CTGTTCTGCGTCACCAAC | GGTGGCATCTACGTCTTCACGCTCCTGGACCATTTTGCAGCC c.1440
L F C V T N | G G I Y V F T L L D H F A A p.480
. . . . . | 12 g.44142
GGCACGTCCATCCTCTTTGGAGTGCTCATCGAAGCCATCGGAGTGGCCTGGTTCTATG | GT c.1500
G T S I L F G V L I E A I G V A W F Y G | p.500
. . . . . . g.44202
GTTGGGCAGTTCAGCGACGACATCCAGCAGATGACCGGGCAGCGGCCCAGCCTGTACTGG c.1560
V G Q F S D D I Q Q M T G Q R P S L Y W p.520
. . . | 13 . . g.47360
CGGCTGTGCTGGAAGCTGGTCAGCCCCTGCTTTCTCCTG | TTCGTGGTCGTGGTCAGCATT c.1620
R L C W K L V S P C F L L | F V V V V S I p.540
. . . . . . g.47420
GTGACCTTCAGACCCCCCCACTACGGAGCCTACATCTTCCCCGACTGGGCCAACGCGCTG c.1680
V T F R P P H Y G A Y I F P D W A N A L p.560
. . . . . . g.47480
GGCTGGGTCATCGCCACATCCTCCATGGCCATGGTGCCCATCTATGCGGCCTACAAGTTC c.1740
G W V I A T S S M A M V P I Y A A Y K F p.580
. . | 14. . . . g.49475
TGCAGCCTGCCTGGGTCCTTTCGAGAG | AAACTGGCCTACGCCATTGCACCCGAGAAGGAC c.1800
C S L P G S F R E | K L A Y A I A P E K D p.600
. . . | 15 . . g.55691
CGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACG | CTCCGCCACTGGCTCAAGGTG c.1860
R E L V D R G E V R Q F T | L R H W L K V p.620
g.55694
TAG c.1863
X p.620
. . . . . . g.55754
agggagcagagacgaagaccccaggaagtcatcctgcaatgggagagacacgaacaaacc c.*60
. . . . . . g.55814
aaggaaatctaagtttcgagagaaaggagggcaacttctactcttcaacctctactgaaa c.*120
. . . . . . g.55874
acacaaacaacaaagcagaagactcctctcttctgactgtttacacctttccgtgccggg c.*180
. . . . . . g.55934
agcgcacctcgccgtgtcttgtgttgctgtaataacgacgtagatctgtgcagcgaggtc c.*240
. . . . . . g.55994
caccccgttgttgtccctgcagggcagaaaaacgtctaacttcatgctgtctgtgtgagg c.*300
. . . . . . g.56054
ctccctccctccctgctccctgctcccggctctgaggctgccccaggggcactgtgttct c.*360
. . . . . . g.56114
caggcggggatcacgatccttgtagacgcacctgctgagaatccccgtgctcacagtagc c.*420
. . . . . . g.56174
ttcctagaccatttactttgcccatattaaaaagccaagtgtcctgcttggtttagctgt c.*480
. . . . . . g.56234
gcagaaggtgaaatggaggaaaccacaaattcatgcaaagtcctttcccgatgcgtggct c.*540
. . . . . . g.56294
cccagcagaggccgtaaattgagcgttcagttgacacattgcacacacagtctgttcaga c.*600
. . . . . . g.56354
ggcattggaggatgggggtcctggtatgtctcaccaggaaattctgtttatgttcttgca c.*660
. . . . . . g.56414
gcagagagaaataaaactccttgaaaccagctcaggctactgccactcaggcagcctgtg c.*720
. . . . . . g.56474
ggtccttgcggtgtagggaacggcctgagaggagcgtgtcctatccccggacgcatgcag c.*780
. . . . . . g.56534
ggcccccacaggagcgtgtcctatccccggacgcatgcagggcccccacaggagcatgtc c.*840
. . . . . . g.56594
ctatccctggacgcatgcagggcccccacaggagcgtgtactaccccagaacgcatgcag c.*900
. . . . . . g.56654
ggcccccacaggagcgtgtactaccccaggacgcatgcagggcccccactggagcgtgta c.*960
. . . . . . g.56714
ctaccccaggacgcatgcagggcccccacaggagcgtgtcctatccccggaccggacgca c.*1020
. . . . . . g.56774
tgcagggcccccacaggagcgtgtactaccccaggacgcatgcagggcccccacaggagc c.*1080
. . . . . . g.56834
gtgtactaccccaggatgcatgcagggcccccacaggagcgtgtactaccccaggacgca c.*1140
. . . . . . g.56894
tgcagggcccccatgcaggcagcctgcagaccacactctgcctggccttgagccgtgacc c.*1200
. . . . . . g.56954
tccaggaagggaccccactggaattttatttctctcaggtgcgtgccacatcaataacaa c.*1260
. . . . . . g.57014
cagtttttatgtttgcgaatggctttttaaaatcatatttacctgtgaatcaaaacaaat c.*1320
. . . . . . g.57074
tcaagaatgcagtatccgcgagcctgcttgctgatattgcagtttttgtttacaagaata c.*1380
. . . . . . g.57134
attagcaatactgagtgaaggatgttggccaaaagctgctttccatggcacactgccctc c.*1440
. . . . . . g.57194
tgccactgacaggaaagtggatgccatagtttgaattcatgcctcaagtcggtgggcctg c.*1500
. . . . . . g.57254
cctacgtgctgcccgagggcaggggccgtgcagggccagtcatggctgtcccctgcaagt c.*1560
. . . . . . g.57314
ggacgtgggctccagggactggagtgtaatgctcggtgggagccgtcagcctgtgaactg c.*1620
. . . . . . g.57374
ccaggcagctgcagttagcacagaggatggcttccccattgccttctggggagggacaca c.*1680
. . . . . . g.57434
gaggacggcttccccatcgccttctggccgctgcagtcagcacagagagcggcttcccca c.*1740
. . . . . . g.57494
ttgccttctggggagggacacagaggacagcttccccatcgccttctggctgctgcagtc c.*1800
. . . . . . g.57554
agcacagagagcggcttccccatcgccttctggggaggggctccgtgtagcaacccaggt c.*1860
. . . . . . g.57614
gttgtccgtgtctgttgaccaatctctattcagcatcgtgtgggtccctaagcacaataa c.*1920
. . g.57639
aagacatccacaatggaaaaactgc c.*1945
(downstream sequence)
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