(used for variant description)
(last modified September 14, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000453.2 in the SLC5A5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012930.1, covering SLC5A5 transcript NM_000453.2.
(upstream sequence)
. . . . g.5047
gctgtcagcgctgagcacagcgcccagggagagggacagacagccgg c.-301
. . . . . . g.5107
ctgcatgggacagcggaacccagagtgagaggggaggtggcaggacagacagacagcagg c.-241
. . . . . . g.5167
ggcggacgcagagacagacagcggggacagggaggccgacacggacatcgacagcccata c.-181
. . . . . . g.5227
gattcctaacccagggagccccggcccctctcgccgcttcccaccccagacggagcgggg c.-121
. . . . . . g.5287
acaggctgccgagcatcctcccacccgccctccccgtcctgcctcctcggcccctgccag c.-61
. . . . . . g.5347
cttcccccgcttgagcacgcagggcgtccgaggacgcgctgggcctccgcacccgccctc c.-1
. . . . . . g.5407
ATGGAGGCCGTGGAGACCGGGGAACGGCCCACCTTCGGAGCCTGGGACTACGGGGTCTTT c.60
M E A V E T G E R P T F G A W D Y G V F p.20
. . . . . . g.5467
GCCCTCATGCTCCTGGTGTCCACTGGCATCGGGCTGTGGGTCGGGCTGGCTCGGGGCGGG c.120
A L M L L V S T G I G L W V G L A R G G p.40
. . . . . . g.5527
CAGCGCAGCGCTGAGGACTTCTTCACCGGGGGCCGGCGCCTGGCGGCCCTGCCCGTGGGC c.180
Q R S A E D F F T G G R R L A A L P V G p.60
. . . . . . g.5587
CTGTCGCTGTCTGCCAGCTTCATGTCGGCCGTGCAGGTGCTGGGCGTGCCGTCGGAGGCC c.240
L S L S A S F M S A V Q V L G V P S E A p.80
. . . . . . g.5647
TATCGCTATGGCCTCAAGTTCCTCTGGATGTGCCTGGGCCAGCTTCTGAACTCGGTCCTC c.300
Y R Y G L K F L W M C L G Q L L N S V L p.100
. . . . . | 02. g.7168
ACCGCCCTGCTCTTCATGCCCGTCTTCTACCGCCTGGGCCTCACCAGCACCTACGAG | TAC c.360
T A L L F M P V F Y R L G L T S T Y E | Y p.120
. . . . . . g.7228
CTGGAGATGCGCTTCAGCCGCGCAGTGCGGCTCTGCGGGACTTTGCAGTACATTGTAGCC c.420
L E M R F S R A V R L C G T L Q Y I V A p.140
| 03 . . . . . | 04 . g.7696
ACG | ATGCTGTACACCGGCATCGTAATCTACGCACCGGCCCTCATCCTGAACCAAG | TGACC c.480
T | M L Y T G I V I Y A P A L I L N Q V | T p.160
. . . . . . g.7756
GGGCTGGACATCTGGGCGTCGCTCCTGTCCACCGGAATTATCTGCACCTTCTACACGGCT c.540
G L D I W A S L L S T G I I C T F Y T A p.180
| 05 . . . . . . g.9036
GTG | GGCGGCATGAAGGCTGTGGTCTGGACTGATGTGTTCCAGGTCGTGGTGATGCTAAGT c.600
V | G G M K A V V W T D V F Q V V V M L S p.200
. . . . . . g.9096
GGCTTCTGGGTTGTCCTGGCACGCGGTGTCATGCTTGTGGGCGGGCCCCGCCAGGTGCTC c.660
G F W V V L A R G V M L V G G P R Q V L p.220
. . . | 06 . . g.10772
ACGCTGGCCCAGAACCACTCCCGGATCAACCTCATGGA | CTTTAACCCTGACCCGAGGAGC c.720
T L A Q N H S R I N L M D | F N P D P R S p.240
. . . . . . g.10832
CGCTATACATTCTGGACTTTTGTGGTGGGTGGCACGTTGGTGTGGCTCTCCATGTATGGC c.780
R Y T F W T F V V G G T L V W L S M Y G p.260
. . . . . | 07 g.10992
GTGAACCAGGCGCAGGTGCAGCGCTACGTGGCTTGCCGCACAGAGAAGCAGGCCAAGCT | G c.840
V N Q A Q V Q R Y V A C R T E K Q A K L | p.280
. . . . . . g.11052
GCCCTGCTCATCAACCAGGTCGGCCTGTTCCTGATCGTGTCCAGCGCTGCCTGCTGTGGC c.900
A L L I N Q V G L F L I V S S A A C C G p.300
. . . . . . g.11112
ATCGTCATGTTTGTGTTCTACACTGACTGCGACCCTCTCCTCCTGGGGCGCATCTCTGCC c.960
I V M F V F Y T D C D P L L L G R I S A p.320
| 08 . . . . . g.13943
CCAGACCAG | TACATGCCTCTGCTGGTGCTGGACATCTTCGAAGATCTGCCTGGAGTCCCC c.1020
P D Q | Y M P L L V L D I F E D L P G V P p.340
. . . | 09 . . g.15009
GGGCTTTTCCTGGCCTGTGCTTACAGTGGCACCCTCAG | CACAGCATCCACCAGCATCAAT c.1080
G L F L A C A Y S G T L S | T A S T S I N p.360
. . . . . . g.15069
GCTATGGCTGCAGTCACTGTAGAAGACCTCATCAAACCTCGGCTGCGGAGCCTGGCACCC c.1140
A M A A V T V E D L I K P R L R S L A P p.380
. . . | 10 . . . g.15205
AGGAAACTCGTGATTATCTCCAAGGGGCTCT | CACTCATCTACGGATCGGCCTGTCTCACC c.1200
R K L V I I S K G L S | L I Y G S A C L T p.400
. . . . | 11 . . g.16726
GTGGCAGCCCTGTCCTCACTGCTCGGAGGAGGTGTCCTTCAG | GGCTCCTTCACCGTCATG c.1260
V A A L S S L L G G G V L Q | G S F T V M p.420
. . . . . . g.16786
GGAGTCATCAGCGGCCCCCTGCTGGGAGCCTTCATCTTGGGAATGTTCCTGCCGGCCTGC c.1320
G V I S G P L L G A F I L G M F L P A C p.440
| 12 . . . . . g.16928
AACACACCG | GGCGTCCTCGCGGGACTAGGCGCGGGCTTGGCGCTGTCGCTGTGGGTGGCC c.1380
N T P | G V L A G L G A G L A L S L W V A p.460
. . . . . . g.16988
TTGGGCGCCACGCTGTACCCACCCAGCGAGCAGACCATGAGGGTCCTGCCATCGTCGGCT c.1440
L G A T L Y P P S E Q T M R V L P S S A p.480
. . . . . . g.17048
GCCCGCTGCGTGGCTCTCTCAGTCAACGCCTCTGGCCTCCTGGACCCGGCTCTCCTCCCT c.1500
A R C V A L S V N A S G L L D P A L L P p.500
. . | 13 . . . . g.21392
GCTAACGACTCCAGCAGGGCCCCCAG | CTCAGGAATGGACGCCAGCCGACCCGCCTTAGCT c.1560
A N D S S R A P S | S G M D A S R P A L A p.520
. . . . . . g.21452
GACAGCTTCTATGCCATCTCCTATCTCTATTACGGTGCCCTGGGCACGCTGACCACTGTG c.1620
D S F Y A I S Y L Y Y G A L G T L T T V p.540
. . . | 14 . . . g.23942
CTGTGCGGAGCCCTCATCAGCTGCCTGACAG | GCCCCACCAAGCGCAGCACCCTGGCCCCG c.1680
L C G A L I S C L T G | P T K R S T L A P p.560
. . . . . . g.24002
GGATTGTTGTGGTGGGACCTCGCACGGCAGACAGCATCAGTGGCCCCCAAGGAAGAAGTG c.1740
G L L W W D L A R Q T A S V A P K E E V p.580
. . | 15. . . . g.26773
GCCATCCTGGATGACAACTTGGTCAAG | GGTCCTGAAGAACTCCCCACTGGAAACAAGAAG c.1800
A I L D D N L V K | G P E E L P T G N K K p.600
. . . . . . g.26833
CCCCCTGGCTTCCTGCCCACCAATGAGGATCGTCTGTTTTTCTTGGGGCAGAAGGAGCTG c.1860
P P G F L P T N E D R L F F L G Q K E L p.620
. . . . . . g.26893
GAGGGGGCTGGCTCTTGGACCCCCTGTGTTGGACATGATGGTGGTCGAGACCAGCAGGAG c.1920
E G A G S W T P C V G H D G G R D Q Q E p.640
. g.26905
ACAAACCTCTGA c.1932
T N L X p.643
. . . . . . g.26965
ggacagggccagccgcgggactgacaccctgggatggaacctcaggatgggccaaaccca c.*60
. . . . . . g.27025
gacaacgggcccatggccttgggctctgattggctggattgccttgtatgcaaatgagtt c.*120
. . . . . . g.27085
caggactacaataccctaccctatggggaggccctgcctccgggaggtcattttttaaat c.*180
. . . . . . g.27145
ccagccccttgcttcaaccgtccccagtattagacgctgcagccctgacggctcccccca c.*240
. . . . . . g.27205
aataaggctgggtttttctctctctcttttttttttttttttttttttgagacagggtca c.*300
. . . . . . g.27265
tgctctgtcacccaggctggagtgcagtggtgtgatctcggctcactgcaacctctgcct c.*360
. . . . . . g.27325
cccaggctcaagtgattctcctgcctcagcctcttgagtagctgggattgtaggtgccca c.*420
. . . . . . g.27385
ccaccatgcccagccaactttttgtatttttagtagagacagggtttcaccatgttggtc c.*480
. . . . . . g.27445
aggctggtctcgaactcctgacctcaagtgatccacctgcctcggcctcccaaagtgctg c.*540
. . . . . . g.27505
ggttacaggcgtaagctaccatgcccagcctaccgtttttctcaatctataatagaaagc c.*600
. . . . . . g.27565
caccacgcccaggtaatttttgtaattttgtatttttgtagagacggggttttgccatgt c.*660
. . . . . . g.27625
tggccaggctggtctcaaactcctgatctcaggtgatcctcctgccttggcctcccaaag c.*720
. . . . . . g.27685
ggctgggattacaggggtgagccaccgcgccccacctctttcttattttcttcctgggat c.*780
. . . . . . g.27745
tggggaggggatgattcagaccccacatggcctccaaccttggcccacacacctgccatg c.*840
. . . . . . g.27805
gctcccatcatcctgagcatgctagcgtcccctcctcacctgacaatggaggctctcgaa c.*900
. . . . . . g.27865
ttgggttgtgtccccccaaaatttatgtctacccagaacctcagaacatgagcttacttg c.*960
. . . . . . g.27925
gaaatagggtctttgcaggtgtaactggttaaattaaaagaggtattactggaggaggat c.*1020
. . . . . . g.27985
ggatgaatccagtgactggttcctcatatgaagtagagaagagatgcagagaaacacatg c.*1080
. . . . . . g.28045
gggaagatgccacgtgaagacagaggcagtggttggatcaatgcatctacgagtcggaga c.*1140
. . . . . . g.28105
acccaaggattgccagcaacaaccagaaatcaggaggggggcatgagatgcattatttct c.*1200
. . . . . . g.28165
tagagcctttagagggaacatggccctactgacaccttgatgtcagacttctggctgcta c.*1260
. . . g.28202
gaactgtcagagaataaatttctgttgtttgatgcca c.*1297
(downstream sequence)
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