(used for variant description)
(last modified May 23, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_004211.3 in the SLC6A5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013086.1, covering SLC6A5 transcript NM_004211.3.
(upstream sequence)
. . . g.5033
cacgccaaacacgcagccccctcccgctggagt c.-241
. . . . . . g.5093
gacaactggccagcatactctaggctgttgtccctttaaaacttgaatccaagggggtaa c.-181
. . . . . . g.5153
tgatttatcaaacttgtattatcaagaaaatgtcaaaccaagggcaccttgctttgcact c.-121
. . . . . . g.5213
gacgcaaacccggcctttcccaaggagatatagaaagcgcctctcctgcctgagccaaac c.-61
. . . . . . g.5273
ccagtcttgtcaatagcgggtttcaccctccaccagttcagtctgttgcctgtgtcagac c.-1
| 02 . . . . . . g.6786
ATG | GATTGCAGTGCTCCCAAGGAAATGAATAAACTGCCAGCCAACAGCCCGGAGGCGGCG c.60
M | D C S A P K E M N K L P A N S P E A A p.20
. . . . . . g.6846
GCGGCGCAGGGCCACCCGGATGGCCCATGCGCTCCCAGGACGAGCCCGGAGCAGGAGCTT c.120
A A Q G H P D G P C A P R T S P E Q E L p.40
. . . . . . g.6906
CCCGCGGCTGCCGCCCCGCCGCCGCCACGTGTGCCCAGGTCCGCTTCCACCGGCGCCCAA c.180
P A A A A P P P P R V P R S A S T G A Q p.60
. . . . . . g.6966
ACTTTCCAGTCAGCGGACGCGCGAGCCTGCGAGGCTGAGCGGCCAGGAGTGGGGTCTTGC c.240
T F Q S A D A R A C E A E R P G V G S C p.80
. . . . . . g.7026
AAACTCAGTAGCCCGCGGGCGCAGGCGGCCTCTGCAGCTCTGCGGGACTTGAGAGAGGCG c.300
K L S S P R A Q A A S A A L R D L R E A p.100
. . . . . . g.7086
CAAGGCGCGCAGGCCTCGCCCCCTCCCGGGAGCTCCGGGCCCGGCAACGCGCTGCACTGT c.360
Q G A Q A S P P P G S S G P G N A L H C p.120
. . . . . . g.7146
AAGATCCCTTTTCTGCGAGGCCCGGAGGGGGATGCGAACGTGAGTGTGGGCAAGGGCACC c.420
K I P F L R G P E G D A N V S V G K G T p.140
. . . . . . g.7206
CTGGAGCGGAACAATACCCCTGTTGTGGGCTGGGTGAACATGAGCCAGAGCACCGTGGTG c.480
L E R N N T P V V G W V N M S Q S T V V p.160
. . . . . . g.7266
CTGGCCACGGATGGAATCACGTCCGTGCTCCCGGGCAGCGTGGCCACCGTTGCCACCCAG c.540
L A T D G I T S V L P G S V A T V A T Q p.180
| 03 . . . . . . g.9946
| GAGGACGAGCAAGGGGATGAGAATAAGGCCCGAGGGAACTGGTCCAGCAAACTGGACTTC c.600
| E D E Q G D E N K A R G N W S S K L D F p.200
. . . . . . g.10006
ATCCTGTCCATGGTGGGGTACGCAGTGGGGCTGGGCAATGTCTGGAGGTTTCCCTACCTG c.660
I L S M V G Y A V G L G N V W R F P Y L p.220
. | 04 . . . . g.12648
GCCTTCCAGAACGGGGGAG | GTGCTTTCCTCATCCCTTACCTGATGATGCTGGCTCTGGCT c.720
A F Q N G G G | A F L I P Y L M M L A L A p.240
. . . . . . g.12708
GGATTACCCATCTTCTTCTTGGAGGTGTCGCTGGGCCAGTTTGCCAGCCAGGGACCAGTG c.780
G L P I F F L E V S L G Q F A S Q G P V p.260
. . . | 05 . . . g.13108
TCTGTGTGGAAGGCCATCCCAGCTCTACAAG | GCTGTGGCATCGCGATGCTGATCATCTCT c.840
S V W K A I P A L Q G | C G I A M L I I S p.280
. . . . . . g.13168
GTCCTAATAGCCATATACTACAATGTGATTATTTGCTATACACTTTTCTACCTGTTTGCC c.900
V L I A I Y Y N V I I C Y T L F Y L F A p.300
. . . . . . g.13228
TCCTTTGTGTCTGTACTACCCTGGGGCTCCTGCAACAACCCTTGGAATACGCCAGAATGC c.960
S F V S V L P W G S C N N P W N T P E C p.320
. . | 06 . . . . g.20314
AAAGATAAAACCAAACTTTTATTAG | ATTCCTGTGTTATCAGTGACCATCCCAAAATACAG c.1020
K D K T K L L L D | S C V I S D H P K I Q p.340
. . . . . . g.20374
ATCAAGAACTCGACTTTCTGCATGACCGCTTATCCCAACGTGACAATGGTTAATTTCACC c.1080
I K N S T F C M T A Y P N V T M V N F T p.360
. . . . | 07. . g.23365
AGCCAGGCCAATAAGACATTTGTCAGTGGAAGTGAAGAGTACTTCAA | GTACTTTGTGCTG c.1140
S Q A N K T F V S G S E E Y F K | Y F V L p.380
. . . . . . g.23425
AAGATTTCTGCAGGGATTGAATATCCTGGCGAGATCAGGTGGCCACTAGCTCTCTGCCTC c.1200
K I S A G I E Y P G E I R W P L A L C L p.400
. . . . . . g.23485
TTCCTGGCTTGGGTCATTGTGTATGCATCATTGGCTAAAGGAATCAAGACTTCAGGAAAA c.1260
F L A W V I V Y A S L A K G I K T S G K p.420
| 08 . . . . . . g.32368
| GTGGTGTACTTCACGGCCACGTTCCCGTATGTCGTACTCGTGATCCTCCTCATCCGAGGA c.1320
| V V Y F T A T F P Y V V L V I L L I R G p.440
. . . . . . g.32428
GTCACCCTGCCTGGAGCTGGAGCTGGGATCTGGTACTTCATCACACCCAAGTGGGAGAAA c.1380
V T L P G A G A G I W Y F I T P K W E K p.460
. | 09 . . . . . g.33625
CTCACGGATGCCACG | GTGTGGAAAGATGCTGCCACTCAGATTTTCTTCTCTTTATCTGCT c.1440
L T D A T | V W K D A A T Q I F F S L S A p.480
. . . . . | 10 g.36292
GCATGGGGAGGCCTGATCACTCTCTCTTCTTACAACAAATTCCACAACAACTGCTACAG | G c.1500
A W G G L I T L S S Y N K F H N N C Y R | p.500
. . . . . . g.36352
GACACTCTAATTGTCACCTGCACCAACAGTGCCACAAGCATCTTTGCCGGCTTCGTCATC c.1560
D T L I V T C T N S A T S I F A G F V I p.520
. . . . . . g.36412
TTCTCCGTTATCGGCTTCATGGCCAATGAACGCAAAGTCAACATTGAGAATGTGGCAGAC c.1620
F S V I G F M A N E R K V N I E N V A D p.540
| 11 . . . . . . g.41963
CAAG | GGCCAGGCATTGCATTTGTGGTTTACCCGGAAGCCTTAACCAGGCTGCCTCTCTCT c.1680
Q G | P G I A F V V Y P E A L T R L P L S p.560
. . . . . | 12. g.42775
CCGTTCTGGGCCATCATCTTTTTCCTGATGCTCCTCACTCTTGGACTTGACACTATG | TTT c.1740
P F W A I I F F L M L L T L G L D T M | F p.580
. . . . . . g.42835
GCCACCATCGAGACCATAGTGACCTCCATCTCAGACGAGTTTCCCAAGTACCTACGCACA c.1800
A T I E T I V T S I S D E F P K Y L R T p.600
. . . . . . g.42895
CACAAGCCAGTGTTTACTCTGGGCTGCTGCATTTGTTTCTTCATCATGGGTTTTCCAATG c.1860
H K P V F T L G C C I C F F I M G F P M p.620
| 13 . . . . . g.44110
ATCACTCAG | GGTGGAATTTACATGTTTCAGCTTGTGGACACCTATGCTGCCTCCTATGCC c.1920
I T Q | G G I Y M F Q L V D T Y A A S Y A p.640
. . . . | 14 . g.52445
CTTGTCATCATTGCCATTTTTGAGCTCGTGGGGATCTCTTATGTGTATG | GCTTGCAAAGA c.1980
L V I I A I F E L V G I S Y V Y G | L Q R p.660
. . . . . . g.52505
TTCTGTGAAGATATAGAGATGATGATTGGATTCCAGCCTAACATCTTCTGGAAAGTCTGC c.2040
F C E D I E M M I G F Q P N I F W K V C p.680
. . . | 15 . . . g.57919
TGGGCATTTGTAACCCCAACCATTTTAACC | TTTATCCTTTGCTTCAGCTTTTACCAGTGG c.2100
W A F V T P T I L T | F I L C F S F Y Q W p.700
. . . . . . g.57979
GAGCCCATGACCTATGGCTCTTACCGCTATCCTAACTGGTCCATGGTGCTCGGATGGCTA c.2160
E P M T Y G S Y R Y P N W S M V L G W L p.720
. . . . . . g.58039
ATGCTCGCCTGTTCCGTCATCTGGATCCCAATTATGTTTGTGATAAAAATGCATCTGGCC c.2220
M L A C S V I W I P I M F V I K M H L A p.740
. | 16 . . . . g.60355
CCTGGAAGATTTATTGAG | AGGCTGAAGTTGGTGTGCTCGCCACAGCCGGACTGGGGCCCA c.2280
P G R F I E | R L K L V C S P Q P D W G P p.760
. . . . . . g.60415
TTCTTAGCTCAACACCGCGGGGAGCGTTACAAGAACATGATCGACCCCTTGGGAACCTCT c.2340
F L A Q H R G E R Y K N M I D P L G T S p.780
. . . . . g.60469
TCCTTGGGACTCAAACTGCCAGTGAAGGATTTGGAACTGGGCACTCAGTGCTAG c.2394
S L G L K L P V K D L E L G T Q C X p.797
. . . . . . g.60529
tccagtggtgtgggatggtccagacttgatcctgtttttcctctctgcctcctcctaatg c.*60
. . . . . . g.60589
ttttccatagctctcctcccatttttcttcatctttcttcctacatcttggttcacatcc c.*120
. . . . . . g.60649
acgcatgagagtgattatgtagaaaagtaggcatagtgtcgcatgctgcagtaaagagct c.*180
. g.60665
acatagaccacctgaa c.*196
(downstream sequence)
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