(used for variant description)
(last modified June 30, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_003041.3 in the SLC5A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012892.1, covering SLC5A2 transcript NM_003041.3.
(upstream sequence)
. g.5019
ggggcagatcctggggaga c.-1
. . . . . . g.5079
ATGGAGGAGCACACAGAGGCAGGCTCGGCACCAGAGATGGGGGCCCAGAAGGCCCTGATT c.60
M E E H T E A G S A P E M G A Q K A L I p.20
. . . . . . g.5139
GACAATCCTGCTGACATCCTAGTCATTGCTGCATATTTCCTGCTGGTCATTGGCGTTGGC c.120
D N P A D I L V I A A Y F L L V I G V G p.40
| 02 . . . . . . g.6609
TTGTGG | TCCATGTGCAGAACCAACAGAGGCACTGTGGGCGGCTACTTCCTGGCAGGACGC c.180
L W | S M C R T N R G T V G G Y F L A G R p.60
. | 03 . . . . g.6743
AGCATGGTGTGGTGGCCG | GTTGGGGCCTCTCTCTTCGCCAGCAACATCGGCAGTGGCCAC c.240
S M V W W P | V G A S L F A S N I G S G H p.80
. . . . . . g.6803
TTTGTGGGCCTGGCAGGGACTGGCGCTGCAAGTGGCTTGGCTGTTGCTGGATTCGAGTGG c.300
F V G L A G T G A A S G L A V A G F E W p.100
| 04 . . . . . . g.7668
AAT | GCGCTCTTCGTGGTGCTGCTACTGGGCTGGCTGTTTGCACCCGTGTACCTGACAGCG c.360
N | A L F V V L L L G W L F A P V Y L T A p.120
. . . . . . g.7728
GGGGTCATCACGATGCCACAGTACCTGCGCAAGCGCTTCGGCGGCCGCCGCATCCGCCTC c.420
G V I T M P Q Y L R K R F G G R R I R L p.140
. . . . | 05 . g.8064
TACCTGTCTGTGCTCTCCCTTTTCCTGTACATCTTCACCAAGATCTCA | GTGGACATGTTC c.480
Y L S V L S L F L Y I F T K I S | V D M F p.160
. . . . . . g.8124
TCCGGAGCTGTATTCATCCAGCAGGCTCTGGGCTGGAACATCTATGCCTCCGTCATCGCG c.540
S G A V F I Q Q A L G W N I Y A S V I A p.180
. . . | 06 . . . g.9228
CTTCTGGGCATCACCATGATTTACACGGTGACAG | GAGGGCTGGCCGCGCTGATGTACACG c.600
L L G I T M I Y T V T G | G L A A L M Y T p.200
. . . . . | 07 . g.9417
GACACGGTACAGACCTTCGTCATTCTGGGGGGCGCCTGCATCCTCATGGGTTACG | CCTTC c.660
D T V Q T F V I L G G A C I L M G Y A | F p.220
. . . . . . g.9477
CACGAGGTGGGCGGGTATTCGGGTCTCTTCGACAAATACCTGGGAGCAGCGACTTCGCTG c.720
H E V G G Y S G L F D K Y L G A A T S L p.240
. . . . . . g.9537
ACGGTGTCCGAGGATCCAGCCGTGGGAAACATCTCCAGCTTCTGCTATCGACCCCGGCCC c.780
T V S E D P A V G N I S S F C Y R P R P p.260
. . . . . . g.9597
GACTCCTACCACCTGCTCCGGCACCCCGTGACCGGGGATCTGCCGTGGCCCGCGCTGCTC c.840
D S Y H L L R H P V T G D L P W P A L L p.280
. . . . | 08 . . g.9935
CTCGGACTCACAATCGTCTCGGGCTGGTACTGGTGCAGCGACCAG | GTCATCGTGCAGCGC c.900
L G L T I V S G W Y W C S D Q | V I V Q R p.300
. . . . . . g.9995
TGCCTGGCCGGGAAGAGCCTGACCCACATCAAGGCGGGCTGCATCCTGTGTGGGTACCTG c.960
C L A G K S L T H I K A G C I L C G Y L p.320
. . . . . . g.10055
AAGCTGACGCCCATGTTTCTCATGGTCATGCCAGGCATGATCAGCCGCATTCTGTACCCA c.1020
K L T P M F L M V M P G M I S R I L Y P p.340
| 09 . . . . . . g.10324
G | ACGAGGTGGCGTGCGTGGTGCCTGAGGTGTGCAGGCGCGTGTGCGGCACGGAGGTGGGC c.1080
D | E V A C V V P E V C R R V C G T E V G p.360
. . . . | 10 . g.10515
TGCTCCAACATCGCCTACCCGCGGCTCGTCGTGAAGCTCATGCCCAACG | GTCTGCGCGGA c.1140
C S N I A Y P R L V V K L M P N G | L R G p.380
. . . . . . g.10575
CTCATGCTGGCGGTCATGCTGGCCGCGCTCATGTCCTCGCTGGCCTCCATCTTCAACAGC c.1200
L M L A V M L A A L M S S L A S I F N S p.400
. . . . . . g.10635
AGCAGCACGCTCTTCACCATGGACATCTACACGCGCCTGCGGCCACGCGCCGGCGACCGC c.1260
S S T L F T M D I Y T R L R P R A G D R p.420
. . | 11 . . . . g.10802
GAGCTGCTGCTGGTGGGACG | GCTCTGGGTGGTGTTCATCGTGGTAGTGTCGGTGGCCTGG c.1320
E L L L V G R | L W V V F I V V V S V A W p.440
. . . . . . g.10862
CTTCCCGTGGTGCAGGCGGCACAGGGCGGGCAGCTCTTCGATTACATCCAGGCAGTCTCT c.1380
L P V V Q A A Q G G Q L F D Y I Q A V S p.460
. . . . . . g.10922
AGCTACCTGGCACCGCCCGTGTCCGCCGTCTTCGTGCTGGCGCTCTTCGTGCCGCGCGTT c.1440
S Y L A P P V S A V F V L A L F V P R V p.480
| 12 . . . . . g.11056
AATGAGCAG | GGCGCCTTCTGGGGACTCATCGGGGGCCTGCTGATGGGCCTGGCACGCCTG c.1500
N E Q | G A F W G L I G G L L M G L A R L p.500
. . . . . . g.11116
ATTCCCGAGTTCTCCTTCGGCTCGGGCAGCTGTGTGCAGCCCTCGGCGTGCCCAGCTTTC c.1560
I P E F S F G S G S C V Q P S A C P A F p.520
. . . . . . g.11176
CTCTGCGGCGTGCACTACCTCTACTTCGCCATTGTGCTGTTCTTCTGCTCTGGCCTCCTC c.1620
L C G V H Y L Y F A I V L F F C S G L L p.540
. . . . | 13 . . g.12001
ACCCTCACGGTCTCCCTGTGCACCGCGCCCATCCCCAGAAAGCAC | CTCCACCGCCTGGTC c.1680
T L T V S L C T A P I P R K H | L H R L V p.560
. . . . . . g.12061
TTCAGTCTCCGGCATAGCAAGGAGGAACGGGAGGACCTGGATGCTGATGAGCAGCAAGGC c.1740
F S L R H S K E E R E D L D A D E Q Q G p.580
. . . . . | 14 . g.12199
TCCTCACTCCCTGTACAGAATGGGTGCCCAGAGAGTGCCATGGAGATGAATG | AGCCCCAG c.1800
S S L P V Q N G C P E S A M E M N E | P Q p.600
. . . . . . g.12259
GCCCCGGCACCAAGCCTCTTCCGCCAGTGCCTGCTCTGGTTTTGTGGAATGAGCAGAGGT c.1860
A P A P S L F R Q C L L W F C G M S R G p.620
. . . . . . g.12319
GGGGTGGGCAGTCCTCCGCCCCTTACCCAGGAGGAGGCAGCGGCAGCAGCCAGGCGGCTG c.1920
G V G S P P P L T Q E E A A A A A R R L p.640
. . . . . . g.12379
GAGGACATCAGCGAGGACCCGAGCTGGGCCCGTGTGGTCAACCTCAATGCCCTGCTCATG c.1980
E D I S E D P S W A R V V N L N A L L M p.660
. . . g.12418
ATGGCAGTGGCCGTGTTCCTCTGGGGCTTCTATGCCTAA c.2019
M A V A V F L W G F Y A X p.672
. . . . . . g.12478
gaccaactgcgttggacaccataagccacagcctcacaggaagtgggggtgaggagcctg c.*60
. . . . . . g.12538
cggtgctccccagaaaaggggaaggggcagtggggtgagaaggtcctggctccccttctc c.*120
. . . . . . g.12598
ccggccttcctctgcctggggcccactgcatctgattggcagtcacttcccatgagggcc c.*180
. . . . . g.12653
tggcccacccgctgcagttgccctaaggaaaaataaagctgcctttcccctgtcc c.*235
(downstream sequence)
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