(used for variant description)
(last modified August 2, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_177550.3 in the SLC13A5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering SLC13A5 transcript NM_177550.3.
(upstream sequence)
. . g.5028
aatccccggggactgtggccccttctta c.-61
. . . . . . g.5088
agcccgcggcgcctctagctgcccctcactcgtctcgcccgccagtctccctcccgcgcg c.-1
. . . . . . g.5148
ATGGCCTCGGCGCTGAGCTATGTCTCCAAGTTCAAGTCCTTCGTGATCTTGTTCGTCACC c.60
M A S A L S Y V S K F K S F V I L F V T p.20
. . . . | 02 . . g.11283
CCGCTCCTGCTGCTGCCACTCGTCATTCTGATGCCCGCCAAG | TTTGTCAGGTGTGCCTAC c.120
P L L L L P L V I L M P A K | F V R C A Y p.40
. . . . . . g.11343
GTCATCATCCTCATGGCCATTTACTGGTGCACAGAAGTCATCCCTCTGGCTGTCACCTCT c.180
V I I L M A I Y W C T E V I P L A V T S p.60
. . . . . | 03 . g.11652
CTCATGCCTGTCTTGCTTTTCCCACTCTTCCAGATTCTGGACTCCAGGCAG | GTGTGTGTC c.240
L M P V L L F P L F Q I L D S R Q | V C V p.80
. . . . . . g.11712
CAGTACATGAAGGACACCAACATGCTGTTCCTGGGCGGCCTCATCGTGGCCGTGGCTGTG c.300
Q Y M K D T N M L F L G G L I V A V A V p.100
. . . . . . g.11772
GAGCGCTGGAACCTGCACAAGAGGATCGCCCTGCGCACGCTCCTCTGGGTGGGGGCCAAG c.360
E R W N L H K R I A L R T L L W V G A K p.120
| 04 . . . . . g.14417
CCTGCACG | GCTGATGCTGGGCTTCATGGGCGTCACAGCCCTCCTGTCCATGTGGATCAGT c.420
P A R | L M L G F M G V T A L L S M W I S p.140
. . . . . . g.14477
AACACGGCAACCACGGCCATGATGGTGCCCATCGTGGAGGCCATATTGCAGCAGATGGAA c.480
N T A T T A M M V P I V E A I L Q Q M E p.160
. . . . . . g.14537
GCCACAAGCGCAGCCACCGAGGCCGGCCTGGAGCTGGTGGACAAGGGCAAGGCCAAGGAG c.540
A T S A A T E A G L E L V D K G K A K E p.180
| 05. . . . . . g.15336
CTGCCAG | GGAGTCAAGTGATTTTTGAAGGCCCCACTCTGGGGCAGCAGGAAGACCAAGAG c.600
L P G | S Q V I F E G P T L G Q Q E D Q E p.200
. . . . . . g.15396
CGGAAGAGGTTGTGTAAGGCCATGACCCTGTGCATCTGCTACGCGGCCAGCATCGGGGGC c.660
R K R L C K A M T L C I C Y A A S I G G p.220
. . . . . | 06 . g.17299
ACCGCCACCCTGACCGGGACGGGACCCAACGTGGTGCTCCTGGGCCAGATGAACGA | GTTG c.720
T A T L T G T G P N V V L L G Q M N E | L p.240
. . . . . . g.17359
TTTCCTGACAGCAAGGACCTCGTGAACTTTGCTTCCTGGTTTGCATTTGCCTTTCCCAAC c.780
F P D S K D L V N F A S W F A F A F P N p.260
. . . . . | 07 g.22481
ATGCTGGTGATGCTGCTGTTCGCCTGGCTGTGGCTCCAGTTTGTTTACATGAGATTCAA | T c.840
M L V M L L F A W L W L Q F V Y M R F N | p.280
. . . . . . g.22541
TTTAAAAAGTCCTGGGGCTGCGGGCTAGAGAGCAAGAAAAACGAGAAGGCTGCCCTCAAG c.900
F K K S W G C G L E S K K N E K A A L K p.300
. . . . . . g.22601
GTGCTGCAGGAGGAGTACCGGAAGCTGGGGCCCTTGTCCTTCGCGGAGATCAACGTGCTG c.960
V L Q E E Y R K L G P L S F A E I N V L p.320
. . . . . . g.22661
ATCTGCTTCTTCCTGCTGGTCATCCTGTGGTTCTCCCGAGACCCCGGCTTCATGCCCGGC c.1020
I C F F L L V I L W F S R D P G F M P G p.340
. . . | 08 . . . g.24249
TGGCTGACTGTTGCCTGGGTGGAGGGTGAGACAAA | GTATGTCTCCGATGCCACTGTGGCC c.1080
W L T V A W V E G E T K | Y V S D A T V A p.360
. . . . . . g.24309
ATCTTTGTGGCCACCCTGCTATTCATTGTGCCTTCACAGAAGCCCAAGTTTAACTTCCGC c.1140
I F V A T L L F I V P S Q K P K F N F R p.380
. | 09 . . . . . g.25303
AGCCAGACTGAGGAAG | AAAGGAAAACTCCATTTTATCCCCCTCCCCTGCTGGATTGGAAG c.1200
S Q T E E E | R K T P F Y P P P L L D W K p.400
. . . . . . g.25363
GTAACCCAGGAGAAAGTGCCCTGGGGCATCGTGCTGCTACTAGGGGGCGGATTTGCTCTG c.1260
V T Q E K V P W G I V L L L G G G F A L p.420
. | 10 . . . . . g.27526
GCTAAAGGATCCGAG | GCCTCGGGGCTGTCCGTGTGGATGGGGAAGCAGATGGAGCCCTTG c.1320
A K G S E | A S G L S V W M G K Q M E P L p.440
. . . . . . g.27586
CACGCAGTGCCCCCGGCAGCCATCACCTTGATCTTGTCCTTGCTCGTTGCCGTGTTCACT c.1380
H A V P P A A I T L I L S L L V A V F T p.460
. . . . . | 11. g.30758
GAGTGCACAAGCAACGTGGCCACCACCACCTTGTTCCTGCCCATCTTTGCCTCCATG | TCT c.1440
E C T S N V A T T T L F L P I F A S M | S p.480
. . . . . . g.30818
CGCTCCATCGGCCTCAATCCGCTGTACATCATGCTGCCCTGTACCCTGAGTGCCTCCTTT c.1500
R S I G L N P L Y I M L P C T L S A S F p.500
. . . . . . g.30878
GCCTTCATGTTGCCTGTGGCCACCCCTCCAAATGCCATCGTGTTCACCTATGGGCACCTC c.1560
A F M L P V A T P P N A I V F T Y G H L p.520
. | 12 . . . . . g.32128
AAGGTTGCTGACATG | GTGAAAACAGGAGTCATAATGAACATAATTGGAGTCTTCTGTGTG c.1620
K V A D M | V K T G V I M N I I G V F C V p.540
. . . . . . g.32188
TTTTTGGCTGTCAACACCTGGGGACGGGCCATATTTGACTTGGATCATTTCCCTGACTGG c.1680
F L A V N T W G R A I F D L D H F P D W p.560
. . g.32215
GCTAATGTGACACATATTGAGACTTAG c.1707
A N V T H I E T X p.568
. . . . . . g.32275
gaagagccacaagaccacacacacagcccttaccctcctcaggactaccgaaccttctgg c.*60
. . . . . . g.32335
cacaccttgtacagagttttggggttcacaccccaaaatgacccaacgatgtccacacac c.*120
. . . . . . g.32395
caccaaaacccagccaatgggccacctcttcctccaagcccagatgcagagatggtcatg c.*180
. . . . . . g.32455
ggcagctggagggtaggctcagaaatgaagggaacccctcagtgggctgctggacccatc c.*240
. . . . . . g.32515
tttcccaagccttgccattatctctgtgagggaggccaggtagccgagggatcaggatgc c.*300
. . . . . . g.32575
aggctgctgtacccgctctgcctcaagcatcccccacacagggctctggttttcactcgc c.*360
. . . . . . g.32635
ttcgtcctagatagtttaaatgggaatcggatcccctggttgagagctaagacaaccacc c.*420
. . . . . . g.32695
taccagtgcccatgtcccttccagctcaccttgagcagcctcagatcatctctgtcactc c.*480
. . . . . . g.32755
tggaagggacaccccagccagggacggaatgcctggtcttgagcaacctcccactgctgg c.*540
. . . . . . g.32815
agtgcgagtgggaatcagagcctcctgaagcctctgggaactcctcctgtggccaccacc c.*600
. . . . . . g.32875
aaaggatgaggaatctgagttgccaacttcaggacgacacctggcttgccacccacagtg c.*660
. . . . . . g.32935
caccacaggccaacctacgcccttcatcacttggttctgttttaatcgactggccccctg c.*720
. . . . . . g.32995
tcccacctctccagtgagcctccttcaactccttggtcccctgttgtctgggtcaacatt c.*780
. . . . . . g.33055
tgccgagacgccttggctggcaccctctggggtcccccttttctcccaggcaggtcatct c.*840
. . . . . . g.33115
tttctgggagatgcttcccctgccatccccaaatagctaggatcacactccaagtatggg c.*900
. . . . . . g.33175
cagtgatggcgctctgggggccacagtgggctatctaggccctccctcacctgaggccca c.*960
. . . . . . g.33235
gagtggacacagctgttaatttccactggctatgccacttcagagtctttcatgccagcg c.*1020
. . . . . . g.33295
tttgagctcctctgggtaaaatcttccctttgttgactggccttcacagccatggctggt c.*1080
. . . . . . g.33355
gacaacagaggatcgttgagattgagcagcgcttggtgatctctcagcaaacaacccctg c.*1140
. . . . . . g.33415
cccgtgggccaatctacttgaagttactcggacaaagaccccaaagtggggcaacaactc c.*1200
. . . . . . g.33475
cagagaggctgtgggaatcttcagaacccccctgtaagagacagacatgagagacaagca c.*1260
. . . . . . g.33535
tcttctttcccccgcaagtccattttatttccttcttgtgctgctctggaagagaggcag c.*1320
. . . . . . g.33595
tagcaaagagatgagctcctggatggcattttccagggcaggagaaagtatgagagcctc c.*1380
. . . . . . g.33655
aggaaaccccatcaaggaccgagtatgtgtctggttccttgggtgggacgattcctgacc c.*1440
. . . . g.33703
acactgtccagctcttgctctcattaaatgctctgtctcccgcggaaa c.*1488
(downstream sequence)
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