(used for variant description)
(last modified January 16, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_130849.2 in the SLC39A4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012234.1, covering SLC39A4 transcript NM_130849.2.
(upstream sequence)
. . . . g.5040
agtctggccctggacaaccccagcaaagccgccctcagcc c.-61
. . . . . . g.5100
agcccagaagcactgggccttggccacagcaacacccactgagcacgctgggagctgagt c.-1
. . . . . . g.5160
ATGGCGTCCCTGGTCTCGCTGGAGCTGGGGCTGCTTCTGGCTGTGCTGGTGGTGACGGCG c.60
M A S L V S L E L G L L L A V L V V T A p.20
. . . . . . g.5220
ACGGCGTCCCCGCCTGCTGGTCTGCTGAGCCTGCTCACCTCTGGCCAGGGCGCTCTGGAT c.120
T A S P P A G L L S L L T S G Q G A L D p.40
. . . . . . g.5280
CAAGAGGCTCTGGGCGGCCTGTTAAATACGCTGGCGGACCGTGTGCACTGCGCCAACGGG c.180
Q E A L G G L L N T L A D R V H C A N G p.60
. | 02 . . . . . g.5846
CCGTGTGGAAAG | TGCCTGTCTGTGGAGGACGCCCTGGGCCTGGGCGAGCCTGAGGGGTCA c.240
P C G K | C L S V E D A L G L G E P E G S p.80
. . . . . . g.5906
GGGCTGCCCCCGGGCCCGGTCCTGGAGGCCAGGTACGTCGCCCGCCTCAGTGCCGCCGCC c.300
G L P P G P V L E A R Y V A R L S A A A p.100
. . . . . . g.5966
GTCCTGTACCTCAGCAACCCCGAGGGCACCTGTGAGGACGCTCGGGCTGGCCTCTGGGCC c.360
V L Y L S N P E G T C E D A R A G L W A p.120
. . . . . . g.6026
TCTCATGCAGACCACCTCCTGGCCCTGCTCGAGAGCCCCAAGGCCCTGACCCCGGGCCTG c.420
S H A D H L L A L L E S P K A L T P G L p.140
. . . . . | 03 . g.6476
AGCTGGCTGCTGCAGAGGATGCAGGCCCGGGCTGCCGGCCAGACCCCCAAGACG | GCCTGC c.480
S W L L Q R M Q A R A A G Q T P K T | A C p.160
. . . . . . g.6536
GTAGATATCCCTCAGCTGCTGGAGGAGGCGGTGGGGGCGGGGGCTCCGGGCAGTGCTGGC c.540
V D I P Q L L E E A V G A G A P G S A G p.180
. . . . . . g.6596
GGCGTCCTGGCTGCCCTGCTGGACCATGTCAGGAGCGGGTCTTGCTTCCACGCCTTGCCG c.600
G V L A A L L D H V R S G S C F H A L P p.200
. . . . . . g.6656
AGCCCTCAGTACTTCGTGGACTTTGTGTTCCAGCAGCACAGCAGCGAGGTCCCTATGACG c.660
S P Q Y F V D F V F Q Q H S S E V P M T p.220
| 04. . . . . . g.6832
CTGGCCG | AGCTGTCAGCCTTGATGCAGCGCCTGGGGGTGGGCAGGGAGGCCCACAGTGAC c.720
L A E | L S A L M Q R L G V G R E A H S D p.240
. . . . . . g.6892
CACAGTCATCGGCACAGGGGAGCCAGCAGCCGGGACCCTGTGCCCCTCATCAGCTCCAGC c.780
H S H R H R G A S S R D P V P L I S S S p.260
. . | 05 . . . . g.7029
AACAGCTCCAGTGTGTGGGACACG | GTATGCCTGAGTGCCAGGGACGTGATGGCTGCATAT c.840
N S S S V W D T | V C L S A R D V M A A Y p.280
. . . . . . g.7089
GGACTGTCGGAACAGGCTGGGGTGACCCCGGAGGCCTGGGCCCAACTGAGCCCTGCCCTG c.900
G L S E Q A G V T P E A W A Q L S P A L p.300
. . . . . . g.7149
CTCCAACAGCAGCTGAGTGGAGCCTGCACCTCCCAGTCCAGGCCCCCCGTCCAGGACCAG c.960
L Q Q Q L S G A C T S Q S R P P V Q D Q p.320
. | 06 . . . . . g.7499
CTCAGCCAGTCAGAGA | GGTATCTGTACGGCTCCCTGGCCACGCTGCTCATCTGCCTCTGC c.1020
L S Q S E R | Y L Y G S L A T L L I C L C p.340
. . . . . . g.7559
GCGGTCTTTGGCCTCCTGCTGCTGACCTGCACTGGCTGCAGGGGGGTCACCCACTACATC c.1080
A V F G L L L L T C T G C R G V T H Y I p.360
. . . . . . g.7619
CTGCAGACCTTCCTGAGCCTGGCAGTGGGTGCACTCACTGGGGACGCTGTCCTGCATCTG c.1140
L Q T F L S L A V G A L T G D A V L H L p.380
| 07 . . . . . g.7845
ACGCCCAAG | GTGCTGGGGCTGCATACACACAGCGAAGAGGGCCTCAGCCCACAGCCCACC c.1200
T P K | V L G L H T H S E E G L S P Q P T p.400
. . . . . . g.7905
TGGCGCCTCCTGGCTATGCTGGCCGGGCTCTACGCCTTCTTCCTGTTTGAGAACCTCTTC c.1260
W R L L A M L A G L Y A F F L F E N L F p.420
. . | 08. . . . g.8041
AATCTCCTGCTGCCCAGGGACCCGGAG | GACCTGGAGGACGGGCCCTGCGGCCACAGCAGC c.1320
N L L L P R D P E | D L E D G P C G H S S p.440
. . . . . . g.8101
CATAGCCACGGGGGCCACAGCCACGGTGTGTCCCTGCAGCTGGCACCCAGCGAGCTCCGG c.1380
H S H G G H S H G V S L Q L A P S E L R p.460
. . . | 09 . . g.8343
CAGCCCAAGCCCCCCCACGAGGGCTCCCGCGCAGACCTG | GTGGCGGAGGAGAGCCCGGAG c.1440
Q P K P P H E G S R A D L | V A E E S P E p.480
. . . | 10 . . . g.8526
CTGCTGAACCCTGAGCCCAGGAGACTGAGCCCAG | AGTTGAGGCTACTGCCCTATATGATC c.1500
L L N P E P R R L S P E | L R L L P Y M I p.500
. . . . . . g.8586
ACTCTGGGCGACGCCGTGCACAACTTCGCCGACGGGCTGGCCGTGGGCGCCGCCTTCGCG c.1560
T L G D A V H N F A D G L A V G A A F A p.520
. . . . . . g.8646
TCCTCCTGGAAGACCGGGCTGGCCACCTCGCTGGCCGTGTTCTGCCACGAGTTGCCACAC c.1620
S S W K T G L A T S L A V F C H E L P H p.540
| 11. . . . . . g.8996
GAGCTGG | GGGACTTCGCCGCCTTGCTGCACGCGGGGCTGTCCGTGCGCCAAGCACTGCTG c.1680
E L G | D F A A L L H A G L S V R Q A L L p.560
. . . . . . g.9056
CTGAACCTGGCCTCCGCGCTCACGGCCTTCGCTGGTCTCTACGTGGCACTCGCGGTTGGA c.1740
L N L A S A L T A F A G L Y V A L A V G p.580
. . . . . . g.9116
GTCAGCGAGGAGAGCGAGGCCTGGATCCTGGCAGTGGCCACCGGCCTGTTCCTCTACGTA c.1800
V S E E S E A W I L A V A T G L F L Y V p.600
. | 12 . . . . . g.9268
GCACTCTGCGACATG | CTCCCGGCGATGTTGAAAGTACGGGACCCGCGGCCCTGGCTCCTC c.1860
A L C D M | L P A M L K V R D P R P W L L p.620
. . . . . . g.9328
TTCCTGCTGCACAACGTGGGCCTGCTGGGCGGCTGGACCGTCCTGCTGCTGCTGTCCCTG c.1920
F L L H N V G L L G G W T V L L L L S L p.640
. . g.9352
TACGAGGATGACATCACCTTCTGA c.1944
Y E D D I T F X p.647
. . . . . . g.9412
taccctgccctagtcccccacctttgacttaagatcccacacctcacaaacctacagccc c.*60
. . . . . . g.9472
agaaaccagaagcccctatagaggccccagtcccaactccagtaaagacactcttgtcct c.*120
g.9476
tgga c.*124
(downstream sequence)
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