(used for variant description)
(last modified April 24, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_173596.2 in the SLC39A5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_034265.1, covering SLC39A5 transcript NM_173596.2.
(upstream sequence)
. g.5017
cttgcccgcctgcctgc c.-241
. . . . . . g.5077
ctgcccccccagctggaaccaagaaggttgtgtcccccttcctctgggtgtccttgtctc c.-181
. | 02 . . . . g.5254
ctgctatcag | ggcttcccctttcttggtcatcgatccctagagctctggctctttctctt c.-121
. | 03 . . . . | 04 g.6179
cttggg | gaactgcttaacgtctacagcaaggcctaataggggacctgag | ggcacagtcct c.-61
. . . . . . g.6239
caggatgtttcggggagaataggagccagaacctgagcccctaagccattcccctcacca c.-1
. . . . . . g.6299
ATGATGGGGTCCCCAGTGAGTCATCTGCTGGCCGGCTTCTGTGTGTGGGTCGTCTTGGGC c.60
M M G S P V S H L L A G F C V W V V L G p.20
. . . . . . g.6359
TGGGTAGGGGGCTCAGTCCCCAACCTGGGCCCTGCTGAGCAGGAGCAGAACCATTACCTG c.120
W V G G S V P N L G P A E Q E Q N H Y L p.40
. . . . . . g.6419
GCCCAGCTGTTTGGCCTGTACGGCGAGAATGGGACGCTGACTGCAGGGGGCTTGGCGCGG c.180
A Q L F G L Y G E N G T L T A G G L A R p.60
. . . . . . g.6479
CTTCTCCACAGCCTGGGGCTAGGCCGAGTTCAGGGGCTTCGCCTGGGACAGCATGGGCCT c.240
L L H S L G L G R V Q G L R L G Q H G P p.80
. . . . | 05. . g.7666
CTGACTGGACGGGCTGCATCCCCAGCTGCAGACAATTCCACACACAG | GCCACAGAACCCT c.300
L T G R A A S P A A D N S T H R | P Q N P p.100
. . . . . . g.7726
GAGCTGAGTGTGGATGTCTGGGCAGGGATGCCTCTGGGTCCCTCAGGGTGGGGTGACCTG c.360
E L S V D V W A G M P L G P S G W G D L p.120
. . . . . . g.7786
GAAGAGTCAAAGGCCCCTCACCTACCCCGTGGGCCAGCCCCCTCGGGCCTGGACCTCCTT c.420
E E S K A P H L P R G P A P S G L D L L p.140
. . . . . | 06 . g.9797
CACAGGCTTCTGTTGCTGGACCACTCATTGGCTGACCACCTGAATGAGGAT | TGTCTGAAC c.480
H R L L L L D H S L A D H L N E D | C L N p.160
. . . . . . g.9857
GGCTCCCAGCTGCTGGTCAATTTTGGCTTGAGCCCCGCTGCTCCTCTGACCCCTCGTCAG c.540
G S Q L L V N F G L S P A A P L T P R Q p.180
. . . . . . g.9917
TTTGCTCTGCTGTGCCCAGCCCTGCTTTATCAGATCGACAGCCGCGTCTGCATCGGCGCT c.600
F A L L C P A L L Y Q I D S R V C I G A p.200
. . . | 07 . . . g.10147
CCGGCCCCTGCACCCCCAGGGGATCTACTATCTG | CCCTGCTTCAGAGTGCCCTGGCAGTC c.660
P A P A P P G D L L S A | L L Q S A L A V p.220
. . . . . . g.10207
CTGTTGCTCAGCCTCCCTTCTCCCCTATCCCTGCTGCTGCTGCGGCTCCTGGGACCTCGT c.720
L L L S L P S P L S L L L L R L L G P R p.240
. . . . . . g.10267
CTACTACGGCCCTTGCTGGGCTTCCTGGGGGCCCTGGCGGTGGGCACTCTTTGTGGGGAT c.780
L L R P L L G F L G A L A V G T L C G D p.260
. . | 08 . . . . g.10560
GCACTGCTACATCTGCTACCGCAT | GCACAAGAAGGGCGGCACGCAGGACCTGGCGGACTA c.840
A L L H L L P H | A Q E G R H A G P G G L p.280
. . . . . . g.10620
CCAGAGAAGGACCTGGGCCCGGGGCTGTCAGTGCTCGGAGGCCTCTTCCTGCTCTTTGTG c.900
P E K D L G P G L S V L G G L F L L F V p.300
. . . . | 09 . . g.11375
CTGGAGAACATGCTGGGGCTTTTGCGGCACCGAGGGCTCAGGCCA | AGATGCTGCAGGCGA c.960
L E N M L G L L R H R G L R P | R C C R R p.320
. . . . . . g.11435
AAACGAAGGAATCTCGAAACACGCAACTTGGATCCGGAGAATGGCAGTGGGATGGCCCTT c.1020
K R R N L E T R N L D P E N G S G M A L p.340
. . | 10 . . . . g.11584
CAGCCCCTACAGGCAGCTCCAG | AGCCAGGGGCTCAGGGCCAGAGGGAGAAGAACAGCCAG c.1080
Q P L Q A A P E | P G A Q G Q R E K N S Q p.360
. . . . . . g.11644
CACCCACCAGCTCTGGCCCCTCCTGGGCACCAAGGCCACAGTCATGGGCACCAGGGTGGC c.1140
H P P A L A P P G H Q G H S H G H Q G G p.380
. . . . . . g.11704
ACTGATATCACGTGGATGGTCCTCCTGGGAGATGGTCTACACAACCTCACTGATGGGCTG c.1200
T D I T W M V L L G D G L H N L T D G L p.400
| 11. . . . . . g.11948
GCCATAG | GTGCTGCCTTCTCTGATGGCTTCTCCAGCGGCCTCAGTACCACCTTAGCGGTC c.1260
A I G | A A F S D G F S S G L S T T L A V p.420
. . | 12 . . . g.12146
TTCTGCCATGAGCTGCCCCACGAACTGG | GTGACTTTGCCATGCTGCTCCAGTCAGGGCTG c.1320
F C H E L P H E L G | D F A M L L Q S G L p.440
. . . . . . g.12206
TCCTTTCGGCGGCTGCTGCTGCTGAGCCTCGTGTCTGGAGCCCTGGGATTGGGGGGTGCA c.1380
S F R R L L L L S L V S G A L G L G G A p.460
. . . . . . g.12266
GTCCTGGGGGTGGGGCTCAGCCTGGGCCCTGTCCCCCTCACTCCCTGGGTGTTTGGGGTC c.1440
V L G V G L S L G P V P L T P W V F G V p.480
. . . | 13 . . g.12573
ACTGCTGGGGTCTTCCTCTATGTGGCCCTTGTGGACATG | CTACCAGCCCTGCTTCGTCCT c.1500
T A G V F L Y V A L V D M | L P A L L R P p.500
. . . . . . g.12633
CCGGAGCCCCTGCCTACGCCCCATGTGCTCCTGCAGGGGCTGGGGCTGCTGCTGGGGGGC c.1560
P E P L P T P H V L L Q G L G L L L G G p.520
. . . . . . g.12693
GGCCTCATGCTTGCCATAACCCTGCTGGAGGAGCGGCTACTGCCCGTGACCACTGAGGGC c.1620
G L M L A I T L L E E R L L P V T T E G p.540
g.12696
TGA c.1623
X p.540
. . . . . . g.12756
tggggccagtggaaaggggtcgggttgcccttccttccccccaaccacaggaatggaggc c.*60
. . . . . g.12811
gggacacagggccagtaggagcaataggattttaataaacagaacccatcccaaa c.*115
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 23
©2004-2020 Leiden University Medical Center