(used for variant description)
(last modified October 6, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001415.3 in the EIF2S3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016387.1, covering EIF2S3 transcript NM_001415.3.
(upstream sequence)
. . g.5021
tttccttcctcttttggcaac c.-1
. . . . . . g.5081
ATGGCGGGCGGAGAAGCTGGAGTGACTCTAGGGCAGCCGCATCTTTCGCGTCAGGATCTC c.60
M A G G E A G V T L G Q P H L S R Q D L p.20
| 02 . . . . . g.5718
ACCACCTTG | GATGTTACCAAGTTGACGCCACTTTCACACGAAGTTATCAGCAGACAAGCC c.120
T T L | D V T K L T P L S H E V I S R Q A p.40
. | 03 . . . . . g.7520
ACAATTAACATAG | GTACAATTGGTCATGTAGCTCATGGGAAATCCACAGTCGTCAAAGCT c.180
T I N I G | T I G H V A H G K S T V V K A p.60
. . . . . . g.7580
ATTTCTGGAGTTCATACTGTCAGGTTCAAAAATGAACTAGAAAGAAATATTACAATCAAG c.240
I S G V H T V R F K N E L E R N I T I K p.80
. . | 04 . . . . g.7724
CTTGGATATGCTAATGCTAAG | ATTTATAAGCTTGATGACCCAAGTTGCCCTCGGCCAGAA c.300
L G Y A N A K | I Y K L D D P S C P R P E p.100
. . . . . . g.7784
TGTTATAGATCTTGTGGGAGCAGTACACCTGACGAGTTTCCTACGGACATTCCAGGGACC c.360
C Y R S C G S S T P D E F P T D I P G T p.120
. . | 05 . . . . g.10177
AAAGGGAACTTCAAATTAGTCAG | ACATGTTTCCTTTGTTGACTGTCCTGGCCACGATATT c.420
K G N F K L V R | H V S F V D C P G H D I p.140
. . . . . | 06 g.12470
TTGATGGCTACTATGCTGAACGGTGCAGCAGTGATGGATGCAGCTCTTCTGTTGATAG | CT c.480
L M A T M L N G A A V M D A A L L L I A | p.160
. . . . . . g.12530
GGTAATGAATCTTGCCCTCAGCCTCAGACATCGGAACACCTGGCTGCTATAGAGATCATG c.540
G N E S C P Q P Q T S E H L A A I E I M p.180
. . . . . . g.12590
AAACTGAAGCATATTTTGATTCTACAAAATAAAATTGATTTGGTAAAAGAAAGTCAGGCT c.600
K L K H I L I L Q N K I D L V K E S Q A p.200
. . . | 07. . . g.14276
AAAGAACAATACGAGCAGATCCTTGCATTTGTCCAAG | GTACAGTAGCAGAGGGAGCTCCC c.660
K E Q Y E Q I L A F V Q G | T V A E G A P p.220
. . . . . . g.14336
ATTATTCCAATTTCAGCTCAGCTGAAATACAATATTGAAGTTGTTTGTGAGTACATAGTA c.720
I I P I S A Q L K Y N I E V V C E Y I V p.240
. . . . . | 08 . g.16058
AAGAAAATTCCAGTACCCCCAAGAGACTTTACTTCAGAGCCCCGGCTTATTG | TTATTAGA c.780
K K I P V P P R D F T S E P R L I V | I R p.260
. . . . . . g.16118
TCTTTTGATGTCAACAAACCTGGCTGTGAAGTTGATGACCTTAAGGGAGGTGTAGCTGGT c.840
S F D V N K P G C E V D D L K G G V A G p.280
. . | 09. . . . g.18049
GGTAGTATCCTAAAAGGAGTATTAAAG | GTGGGCCAGGAGATAGAAGTAAGACCTGGTATT c.900
G S I L K G V L K | V G Q E I E V R P G I p.300
. . . . . . g.18109
GTTTCCAAAGATAGTGAAGGAAAACTCATGTGTAAACCAATCTTTTCCAAAATTGTATCA c.960
V S K D S E G K L M C K P I F S K I V S p.320
. . . . . | 10 . g.21618
CTTTTTGCGGAGCATAATGATCTGCAATATGCTGCTCCAGGCGGTCTTATTG | GAGTTGGA c.1020
L F A E H N D L Q Y A A P G G L I G | V G p.340
. . . . . . g.21678
ACAAAAATTGACCCCACTTTGTGCCGGGCTGACAGAATGGTGGGGCAAGTACTTGGTGCA c.1080
T K I D P T L C R A D R M V G Q V L G A p.360
. . . . . . g.21738
GTCGGAGCTTTACCTGAGATATTCACAGAATTGGAAATTTCCTATTTCCTGCTTAGACGG c.1140
V G A L P E I F T E L E I S Y F L L R R p.380
. . . . | 11 . . g.23161
CTTCTAGGTGTACGCACTGAAGGAGACAAGAAAGCAGCAAAG | GTTCAAAAGCTGTCTAAG c.1200
L L G V R T E G D K K A A K | V Q K L S K p.400
. . . . . . g.23221
AATGAAGTGCTCATGGTGAACATAGGATCCCTGTCAACAGGAGGGAGAGTTAGTGCTGTC c.1260
N E V L M V N I G S L S T G G R V S A V p.420
. . . . . . g.23281
AAGGCCGATTTGGGTAAAATTGTTTTGACCAATCCAGTGTGCACAGAGGTAGGAGAAAAA c.1320
K A D L G K I V L T N P V C T E V G E K p.440
. . . | 12 . . . g.26799
ATTGCCCTTAGCCGAAGAGTTGAAAAACACTGGCG | TTTAATTGGTTGGGGTCAGATAAGA c.1380
I A L S R R V E K H W R | L I G W G Q I R p.460
. . . g.26838
AGAGGAGTGACAATCAAGCCAACAGTAGATGATGACTGA c.1419
R G V T I K P T V D D D X p.472
. . . . . . g.26898
agaataccagttaaataatacattcggatggatttggaagttggaattcctcttaacaac c.*60
. . . . . . g.26958
caaggggtttattttcaaagcaatattggggaattgatttcacagttcgttaccttagta c.*120
. . . . . . g.27018
ggtaacggtaaggttattctctttttttttttttttttttttggttatgaaaacttaggg c.*180
. . . . . . g.27078
actaaaattaatataaaaattggcataatgttggattgaatctacattttggcagaagtt c.*240
. . . . . . g.27138
aaacattcccacataatgtcaaaattatacatcatgcagttctgtttttttgtttgtttt c.*300
. . . . . . g.27198
attttgttttgtttttgagtctggctctgtcacccaggctggagtgcagtggcgtgatct c.*360
. . . . . . g.27258
gcaacctctgccccccgggttcaagcgattctcctgcctcagcctcccgagtagctgaga c.*420
. . . . . . g.27318
ttacaggtgcgcgccaccacacttggctaatttttgtattattagtagagacggggtttc c.*480
. . . . . . g.27378
agcatgttggctaggccggtctctcctgacctcagggtgatcagcccacctcggcctcac c.*540
. . . . . . g.27438
aaagtgctgggattacaggcgtgagccaccttgcccagcccacatcatacagtttgaaat c.*600
. . . . . . g.27498
gaaactttgccacaaccagcctttgctgtagcacacacatatatcactgaacctgtttga c.*660
. . . . . . g.27558
aataaagttttttttctttttcatgattcgtctttgagtacctccaggctgaaagactgt c.*720
. . . . . . g.27618
tgtaccagtaaaaacttaaaggcacaaattctccttgaagaccttctcccttttatgtgg c.*780
. . . . . . g.27678
ccccatattttatgttgctttatctttgaaattttgcatgaaaaggaaatgaatggattc c.*840
. . . . . . g.27738
gaatgaaattgtcctttagagcatgattacttgttcccatggacaaatatttttctcccc c.*900
. . . . . . g.27798
ttgctcttcctggcctgaaacacgggaaaccagagtcaaaagttatctccctctccctgt c.*960
. . . . . . g.27858
gatgccttgagatttttttctgcgttgtttaatgcctgaaatccaagtcttcctccatgg c.*1020
. . . . . . g.27918
gaaaatactgttataccaaataattctagatgagtaacaaagatctttttaggccttcat c.*1080
. . . . . . g.27978
tttatgttttttcttaactgttatattatgattgtgacatagattatactactactaatt c.*1140
. . . . . . g.28038
tttggatgtttcaaaaggtcaagaagtaaaagatgttagaaagcaatgagtgagtccttt c.*1200
. . . . . . g.28098
tgatttttaacttattccccatgtccctatacttcgtgtgcttttcctttttttttttga c.*1260
. . . . . . g.28158
gacggaggctcactccgtcacctaggctagagtacagtggcacgatcttggctcgctgca c.*1320
. . . . . . g.28218
acctctgcctccctgattcaagtgattctcgtgcttcagcctcccatgtagctgatatta c.*1380
. . . . . . g.28278
caggcacttgccaccatacccggctaatttttgtatttttagtagagatggggtttcacc c.*1440
. . . . . . g.28338
atgttgcccaggctggtcttgaactcctaacctcaggtgatccgcccgcctctgccttcc c.*1500
. . . . . . g.28398
aaagtgctgggattacaggcgtgagccactctgcccggcttatttttctttatgtttttg c.*1560
. . . . . . g.28458
cttcgtaagaggttctgttgagcagtgatttgcaactcttgctgacgttgctggggaagc c.*1620
. . . . . . g.28518
tttaaaaaaaaaaaagatgccccacagagattctgattttaattgttctgatttaattgg c.*1680
. . . . . . g.28578
cttggagtagaattcaggcattgatatctttaaaaactccccagtgttgagaaacaaatt c.*1740
. . . . . . g.28638
tagagagttgagaagtaggtatattaaattacagaatcttactgagttttggtagactga c.*1800
. . . . . . g.28698
taatacaatttgctttgcttttcttaaatttgcattgagatgggatttgaagcatattgt c.*1860
. . . . . . g.28758
gctcttgtgaatgttgaagttgcattgtagaagtttagaagctctggctatgggttgcct c.*1920
. . . . . . g.28818
aaattgatgttttgaggaagcatattaatgttataaacttcgctgactttgaaggttgtg c.*1980
. . . . g.28863
ttgtagcatgaggaacacaaataaaacaattctaaatcaaactaa c.*2025
(downstream sequence)
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