(used for variant description)
(last modified February 22, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001128431.2 in the SLC39A14 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering SLC39A14 transcript NM_001128431.2.
(upstream sequence)
. . . . . g.5055
atatagccgggcatgcgcgcggtgccggggcccggacgcagtgaggggggtcggc c.-121
. . . . . . g.5115
gcgcgtgtctacgcggacgcaccggctaagctgcttctgccgccgccggccgcctgggac c.-61
. . . . . | 02 . g.42462
cttgcggtgaggctgcgcggggccgaggccgcctccgagcgccag | gtttattcagtcacc c.-1
. . . . . . g.42522
ATGAAGCTGCTGCTGCTGCACCCGGCCTTCCAGAGCTGCCTCCTGCTGACCCTGCTTGGC c.60
M K L L L L H P A F Q S C L L L T L L G p.20
. . . . . . g.42582
TTATGGAGAACCACCCCTGAGGCTCACGCTTCATCCCTGGGTGCACCAGCTATCAGCGCT c.120
L W R T T P E A H A S S L G A P A I S A p.40
. . . . . . g.42642
GCCTCCTTCCTGCAGGATCTAATACATCGGTATGGCGAGGGTGACAGCCTCACTCTGCAG c.180
A S F L Q D L I H R Y G E G D S L T L Q p.60
. . . . . . g.42702
CAGCTGAAGGCCCTACTCAACCACCTGGATGTGGGAGTGGGCCGGGGTAATGTCACCCAG c.240
Q L K A L L N H L D V G V G R G N V T Q p.80
. . . | 03 . . . g.46091
CACGTGCAAGGACACAGGAACCTCTCCACG | TGCTTTAGTTCTGGAGACCTCTTCACTGCC c.300
H V Q G H R N L S T | C F S S G D L F T A p.100
. . . . . . g.46151
CACAATTTCAGCGAGCAGTCGCGGATTGGGAGCAGCGAGCTCCAGGAGTTCTGCCCCACC c.360
H N F S E Q S R I G S S E L Q E F C P T p.120
. . . . . . g.46211
ATCCTCCAGCAGCTGGATTCCCGGGCCTGCACCTCGGAGAACCAGGAAAACGAGGAGAAT c.420
I L Q Q L D S R A C T S E N Q E N E E N p.140
. . . | 04. . . g.49811
GAGCAGACGGAGGAGGGGCGGCCAAGCGCTGTTGAAG | TGTGGGGATACGGTCTCCTCTGT c.480
E Q T E E G R P S A V E V | W G Y G L L C p.160
. . . . . . g.49871
GTGACCGTCATCTCCCTCTGCTCCCTCCTGGGGGCCAGCGTGGTGCCCTTCATGAAGAAG c.540
V T V I S L C S L L G A S V V P F M K K p.180
. . . . . . g.49931
ACCTTTTACAAGAGGCTGCTGCTCTACTTCATAGCTCTGGCGATTGGAACCCTCTACTCC c.600
T F Y K R L L L Y F I A L A I G T L Y S p.200
. . | 05. . . . g.52564
AACGCCCTCTTCCAGCTCATCCCGGAG | GCATTTGGTTTCAACCCTCTGGAAGATTATTAT c.660
N A L F Q L I P E | A F G F N P L E D Y Y p.220
. . . . . . g.52624
GTCTCCAAGTCTGCAGTGGTGTTTGGGGGCTTTTATCTTTTCTTTTTCACAGAGAAGATC c.720
V S K S A V V F G G F Y L F F F T E K I p.240
. . . | 06 . . . g.53550
TTGAAGATTCTTCTTAAGCAGAAAAATGAG | CATCATCATGGACACAGCCATTATGCCTCT c.780
L K I L L K Q K N E | H H H G H S H Y A S p.260
. . . . . . g.53610
GAGTCGCTTCCCTCCAAGAAGGACCAGGAGGAGGGGGTGATGGAGAAGCTGCAGAACGGG c.840
E S L P S K K D Q E E G V M E K L Q N G p.280
. . . . . . g.53670
GACCTGGACCACATGATTCCTCAGCACTGCAGCAGTGAGCTGGACGGCAAGGCGCCCATG c.900
D L D H M I P Q H C S S E L D G K A P M p.300
. . . | 07 . . g.53845
GTGGACGAGAAGGTCATTGTGGGCTCGCTCTCTGTGCAG | GACCTGCAGGCTTCCCAGAGT c.960
V D E K V I V G S L S V Q | D L Q A S Q S p.320
. . . . . . g.53905
GCTTGCTACTGGCTGAAAGGTGTCCGCTACTCTGATATCGGCACTCTGGCCTGGATGATC c.1020
A C Y W L K G V R Y S D I G T L A W M I p.340
. . . . . . g.53965
ACTCTGAGCGACGGCCTCCATAATTTCATCGATGGCCTGGCCATCGGTGCTTCCTTCACT c.1080
T L S D G L H N F I D G L A I G A S F T p.360
. . . . . . g.54025
GTGTCAGTTTTCCAAGGCATCAGCACCTCGGTGGCCATCCTCTGTGAGGAGTTCCCACAT c.1140
V S V F Q G I S T S V A I L C E E F P H p.380
| 08. . . . . . g.55455
GAGCTAG | GAGACTTTGTCATCCTGCTCAACGCTGGGATGAGCATCCAACAAGCTCTCTTC c.1200
E L G | D F V I L L N A G M S I Q Q A L F p.400
. . . . . . g.55515
TTCAACTTCCTTTCTGCCTGCTGCTGCTACCTGGGTCTGGCCTTTGGCATCCTGGCCGGC c.1260
F N F L S A C C C Y L G L A F G I L A G p.420
. . . . . . g.55575
AGCCACTTCTCTGCCAACTGGATTTTTGCGCTAGCTGGAGGAATGTTCTTGTATATTTCT c.1320
S H F S A N W I F A L A G G M F L Y I S p.440
. | 09 . . . . . g.57351
CTGGCTGATATG | TTCCCTGAGATGAATGAGGTCTGTCAAGAGGATGAAAGGAAGGGCAGC c.1380
L A D M | F P E M N E V C Q E D E R K G S p.460
. . . . . . g.57411
ATCTTGATTCCATTTATCATCCAGAACCTGGGCCTCCTGACTGGATTCACCATCATGGTG c.1440
I L I P F I I Q N L G L L T G F T I M V p.480
. . . g.57450
GTCCTCACCATGTATTCAGGACAGATCCAGATTGGGTAG c.1479
V L T M Y S G Q I Q I G X p.492
. . . . . . g.57510
ggctctgccaagagcctgtgggactggaagtcgggccctgggctgcccgatcgccagccc c.*60
. . . . . . g.57570
gaggacttaccatccacaatgcaccacggaagaggccgttctatgaaaaactgacacaga c.*120
. . . . . . g.57630
ctgtattcctgcattcaaatgtcagccgtttgtaaaatgctgtatcctaggaataagctg c.*180
. . . . . . g.57690
ccctggtaaccagtctctagctagtgcctcttgccctctcctcacctccttttctctcag c.*240
. . . . . . g.57750
tgactctggaacctgaatgcagcttacaagacaagcctgacttttttctctgattacctt c.*300
. . . . . . g.57810
ggcctcctcttggaaccagtgctgaaaggttttgaatcctttacccaacaatgcaaaaat c.*360
. . . . . . g.57870
agagccaatggttataacttggctagaaatatcaagagttgaatccatagtgtggggccc c.*420
. . . . . . g.57930
atgactctagctgggcaccttggacctccagctggccaatagaagagacaggagacagga c.*480
. . . . . . g.57990
agccttcccattttttcaaagtctgtttaattgcctattacttctctcaaagagaacctg c.*540
. . . . . . g.58050
aagtcagaacacatgagcagggtgagaggtgaggcaaggttcatcctgaatgggagagga c.*600
. . . . . . g.58110
agtcgaaccactgctgtgtgtcttgtcaggatgctcacttgttcctactgagatgctgga c.*660
. . . . . . g.58170
tattgattttgtaacagcacctggtgtttcacggctgtccgagtgagctaacgtggcggt c.*720
. . . . . . g.58230
gtggctgcctggacctcctctttcaggttaacgctgacagaatggaggctcaggctgtct c.*780
. . . . . . g.58290
gcaagaaaacagttggtttggctgtgattttgacctcctcttccccactgccatcttcta c.*840
. . . . . . g.58350
agagactttgtagctgcctcctagaagcacattctgagcacatttgagacctctgtgtta c.*900
. . . . . . g.58410
gaggggagactgcacaaactatcctcccccaggttgagacgtctgcagagtggcaagctg c.*960
. . . . . . g.58470
acttgtagaaatggggtgccatttatgctctacttagacaagggtaatcagaaatggaat c.*1020
. . . . . . g.58530
cagtgcaggcaaaatttaggatttgccgcttccataaatcaaagcatgactaataggggg c.*1080
. . . . . . g.58590
tctctgaaatgtaagggcacaaacttcacttagggcatcgcagatgtttgcagaatggtt c.*1140
. . . . . . g.58650
ggcctaatgattatgctacagatgggttttaaatgacccgtctaggttactgcttccttg c.*1200
. . . . . . g.58710
caaaaaaagtcgaatcctgcattgaattgaatatgaatttctctaactctctccagaaaa c.*1260
. . . . . . g.58770
tggatggagataacttgtctttaaaactgtaggccagccttagccactgtggagcccttg c.*1320
. . . . . . g.58830
cctccgagctctggcttcaaggggagctcttctccaggttcactaggtgaattgatttat c.*1380
. . . . . . g.58890
tattatcatattgataatgtgagattctttagccactttggggagcctgtctctccagaa c.*1440
. . . . . . g.58950
gcctttcttagtggtgcccacagttggagcccaggggccatgtttgcaaactgattcatg c.*1500
. . . . . . g.59010
tgcatggctgacaggagtactggttcactaccaatgcctgagcttttctcttacatagaa c.*1560
. . . . . . g.59070
aaactgtccgctctcagtaatcacaagcagcatccgttttgttttctcttcttgggagac c.*1620
. . . . . . g.59130
atctgtcaaaccaggaatattcttgaaaagaacgtgagcaggaaaaactgctggtgatac c.*1680
. . . . . . g.59190
tttttttaagttttgtttttatcttgcctgttggcttcaatacatttgagaatacgctga c.*1740
. . . . . . g.59250
agagggaaaatttcagtgatggagattctagattaaatatcaggactgatttcctggtgg c.*1800
. . . . . . g.59310
gattatggtccagttttaccaaagaaccaattccttgaatgttggaatctaactttttat c.*1860
. . . . . . g.59370
attgtcattattattgttgtttttaaacggttctttgtcttttctgttttatttttctca c.*1920
. . . . . . g.59430
agctgctttcaggagctagcagaaaataactcaaagttgaagactctggaagattttgct c.*1980
. . . . . . g.59490
ttaacctaactcgcattgatgtattaaatttataattttagcattcccaatagatcctat c.*2040
. . . . . . g.59550
cattccttaaacataataccctttgtcttggagtagaatactaagttagagttagtggat c.*2100
. . . . . . g.59610
ttctagtttaggagaggagctcaaaactataatctttaacaaattgaaaaatgaaatagg c.*2160
. . . . . . g.59670
gtgttttccctttttgtgcacacctatattaccttaagaaatttccttccatagacagct c.*2220
. . . . . . g.59730
gcctcaaagggaaatcctctttaaaccgtagttggcgcagaggtcagtcctagtcggagc c.*2280
. . . . . . g.59790
ttaggaggggcggagacgctcacatcgtctgacttgagtcgccactgattgtggcaacag c.*2340
. . . . . . g.59850
ctttgcctcatgagtcaaaaattggcaatttcttttgatttttagttgttgaatttgctg c.*2400
. . . . . . g.59910
tttcaagcatttgtacatattagaagtctaaggagtagcaagtcagtgggaggacttttt c.*2460
. . . . . . g.59970
cacccctggcattagcagcttcgacctcattttccagatgcaccagctcctattaataag c.*2520
. . . . . . g.60030
ttagcaaggaaagtgtatgtcacgtgcaggaacagtgaggcagggacaggggttctgctc c.*2580
. . . . . . g.60090
cttctcacttcaccaccggcacacagcttgcccctgtctttgcccccaaaggtattttgt c.*2640
. . . . . . g.60150
gtctagtgtcaaattggagctattcttcactggtccttaaccttgggttttaaaaagaag c.*2700
. . . . . . g.60210
gcttctctgtttgggtagcgtaagagctgagtatagtaagtcctcttccaaagagatggc c.*2760
. . . . . . g.60270
aatatgctgggcatctactttaaaacaaagttgtctgatttttgcaagagaggttaggat c.*2820
. . . . . . g.60330
tttattgttcttatttccctttacagttctgcagttccatcacagtatttttttaaataa c.*2880
. . . . . . g.60390
ctcaggtgtatgagaagaaattagaaaagaaaattaacttatgtggactgtaaatgtttt c.*2940
. . . . . . g.60450
atttgtaagattctataaataaagctatattctgtaattgttgagaatcccacgggtgat c.*3000
. . . g.60488
catttgcaataaatgtggatgtaatgaaggctgttgaa c.*3038
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 23
©2004-2020 Leiden University Medical Center