(used for variant description)
(last modified February 18, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_003907.2 in the EIF2B5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015826.1, covering EIF2B5 transcript NM_003907.2.
(upstream sequence)
g.5004
gatt c.-361
. . . . . . g.5064
cccgatggagctggccccttcgtggcgaccacaagtcctatcacgccacaagaatctcgg c.-301
. . . . . . g.5124
cttgttcacctacaaatgaaggccgacgatacttgcagaccgagtctgacatctatggga c.-241
. . . . . . g.5184
ccccactcctaccctgcgcctcaggggccgggacaaccgtgacccgtaccgactcctcgc c.-181
. . . . . . g.5244
gcctccgggatcaacctcagacccctgtgggctcccggggaagacgcatgcgcactgctc c.-121
. . . . . . g.5304
cctcctcgtctccttcccttcgttaattagtccatcgcatttcaagtgctggatcctttt c.-61
. . . . . . g.5364
tgtcccctactgcgtgcggtggcagcttccttgcggaagtggtgaccgtgagagaagaag c.-1
. . . . . . g.5424
ATGGCGGCCCCTGTAGTGGCGCCGCCTGGTGTGGTGGTTAGTCGGGCTAACAAGCGCAGC c.60
M A A P V V A P P G V V V S R A N K R S p.20
. . . . . . g.5484
GGCGCGGGGCCGGGAGGCAGCGGTGGCGGGGGAGCCAGAGGGGCGGAGGAGGAACCGCCG c.120
G A G P G G S G G G G A R G A E E E P P p.40
. . . . . . g.5544
CCGCCCCTACAAGCAGTTCTGGTGGCCGATAGCTTCGATCGCCGCTTCTTCCCCATCTCC c.180
P P L Q A V L V A D S F D R R F F P I S p.60
. | 02 . . . . . g.6635
AAGGACCAGCCTCGG | GTCCTCTTGCCCCTGGCCAATGTGGCATTAATTGACTACACTCTG c.240
K D Q P R | V L L P L A N V A L I D Y T L p.80
. . . . . . g.6695
GAATTCCTGACTGCCACAGGTGTACAGGAAACATTTGTCTTTTGTTGCTGGAAAGCTGCT c.300
E F L T A T G V Q E T F V F C C W K A A p.100
. . | 03 . . . . g.7638
CAAATCAAAGAACATTTACT | GAAGTCAAAGTGGTGCCGCCCTACATCTCTCAATGTGGTT c.360
Q I K E H L L | K S K W C R P T S L N V V p.120
. . . . . . g.7698
CGAATAATTACATCAGAGCTCTATCGATCACTGGGAGATGTCCTCCGTGATGTTGATGCC c.420
R I I T S E L Y R S L G D V L R D V D A p.140
. . . . . . g.7758
AAGGCTTTGGTGCGCTCTGACTTTCTTCTGGTGTATGGGGATGTCATCTCAAACATCAAT c.480
K A L V R S D F L L V Y G D V I S N I N p.160
. . | 04 . . . . g.7910
ATCACCAGAGCCCTTGAGGAACACAG | GTTGAGACGGAAGCTAGAAAAAAATGTTTCTGTG c.540
I T R A L E E H R | L R R K L E K N V S V p.180
. . . . . . g.7970
ATGACGATGATCTTCAAGGAGTCATCCCCCAGCCACCCAACTCGTTGCCACGAAGACAAT c.600
M T M I F K E S S P S H P T R C H E D N p.200
. . . . . . g.8030
GTGGTAGTGGCTGTGGATAGTACCACAAACAGGGTTCTCCATTTTCAGAAGACCCAGGGT c.660
V V V A V D S T T N R V L H F Q K T Q G p.220
. . | 05 . . . . g.8180
CTCCGGCGTTTTGCATTTCCTCTG | AGCCTGTTTCAGGGCAGTAGTGATGGAGTGGAGGTT c.720
L R R F A F P L | S L F Q G S S D G V E V p.240
. . . . | 06 . . g.10073
CGATATGATTTACTGGATTGTCATATCAGCATCTGTTCTCCTCAG | GTGGCACAACTCTTT c.780
R Y D L L D C H I S I C S P Q | V A Q L F p.260
. . . . . . g.10133
ACAGACAACTTTGACTACCAAACTCGAGATGACTTTGTGCGAGGTCTCTTAGTGAATGAG c.840
T D N F D Y Q T R D D F V R G L L V N E p.280
| 07 . . . . . . g.10453
GAG | ATCCTAGGGAACCAGATCCACATGCACGTAACAGCTAAGGAATATGGTGCCCGTGTC c.900
E | I L G N Q I H M H V T A K E Y G A R V p.300
. . . . . . g.10513
TCCAACCTACACATGTACTCAGCTGTCTGTGCTGACGTCATCCGCCGATGGGTCTACCCT c.960
S N L H M Y S A V C A D V I R R W V Y P p.320
. . . . . . g.10573
CTCACCCCAGAGGCGAACTTCACTGACAGCACCACCCAGAGCTGCACTCATTCCCGGCAC c.1020
L T P E A N F T D S T T Q S C T H S R H p.340
. . . . . . g.10633
AACATCTACCGAGGGCCTGAGGTCAGCCTGGGCCATGGCAGCATCCTAGAGGAAAATGTG c.1080
N I Y R G P E V S L G H G S I L E E N V p.360
. . . . . . g.10693
CTCCTGGGCTCTGGCACTGTCATTGGCAGCAATTGCTTTATCACCAACAGTGTCATTGGC c.1140
L L G S G T V I G S N C F I T N S V I G p.380
. | 08 . . . . . g.11947
CCCGGCTGCCACATTG | GTGATAACGTGGTGCTGGACCAGACCTACCTGTGGCAGGGTGTT c.1200
P G C H I G | D N V V L D Q T Y L W Q G V p.400
. . . . . . g.12007
CGAGTGGCGGCTGGAGCACAGATCCATCAGTCTCTGCTTTGTGACAATGCTGAGGTCAAG c.1260
R V A A G A Q I H Q S L L C D N A E V K p.420
. . . . | 09 . . g.12233
GAACGAGTGACACTGAAACCACGCTCTGTCCTCACTTCCCAG | GTGGTCGTGGGCCCAAAT c.1320
E R V T L K P R S V L T S Q | V V V G P N p.440
. . . . . . g.12293
ATCACGCTGCCTGAGGGCTCGGTGATCTCTTTGCACCCTCCAGATGCAGAGGAAGATGAA c.1380
I T L P E G S V I S L H P P D A E E D E p.460
. . . . . . g.12353
GATGATGGCGAGTTCAGTGATGATTCTGGGGCTGACCAAGAAAAGGACAAAGTGAAGATG c.1440
D D G E F S D D S G A D Q E K D K V K M p.480
| 10 . . . . . . g.12536
AAAG | GTTACAATCCAGCAGAAGTAGGAGCTGCTGGCAAGGGCTACCTCTGGAAAGCTGCA c.1500
K G | Y N P A E V G A A G K G Y L W K A A p.500
. . . . | 11 . . g.12771
GGCATGAACATGGAGGAAGAGGAGGAACTGCAGCAGAATCTGTGGG | GACTCAAGATCAAC c.1560
G M N M E E E E E L Q Q N L W G | L K I N p.520
. . . . . . g.12831
ATGGAAGAAGAGAGTGAAAGTGAAAGTGAGCAAAGTATGGATTCTGAGGAGCCGGACAGC c.1620
M E E E S E S E S E Q S M D S E E P D S p.540
. . . | 12 . . . g.13056
CGGGGAGGCTCCCCTCAGATGGATGACATCAAAG | TGTTCCAGAATGAAGTTTTAGGAACA c.1680
R G G S P Q M D D I K V | F Q N E V L G T p.560
. . . . . . g.13116
CTACAGCGGGGCAAAGAGGAGAACATTTCTTGTGACAATCTCGTCCTGGAAATCAACTCT c.1740
L Q R G K E E N I S C D N L V L E I N S p.580
| 13 . . . . . . g.13475
CTCAA | GTATGCCTATAACATAAGTCTAAAGGAGGTGATGCAGGTACTGAGCCACGTGGTC c.1800
L K | Y A Y N I S L K E V M Q V L S H V V p.600
. . . . . . g.13535
CTGGAGTTCCCCCTGCAACAGATGGATTCCCCGCTTGACTCAAGCCGCTACTGTGCCCTG c.1860
L E F P L Q Q M D S P L D S S R Y C A L p.620
| 14 . . . . . g.14128
CTGCTTCCT | CTGCTAAAGGCCTGGAGCCCTGTTTTTAGGAACTACATAAAGCGCGCAGCC c.1920
L L P | L L K A W S P V F R N Y I K R A A p.640
. . . . . . g.14188
GACCATTTGGAAGCGTTAGCAGCCATTGAGGACTTCTTCCTAGAGCATGAAGCTCTTGGT c.1980
D H L E A L A A I E D F F L E H E A L G p.660
. | 15 . . . . . g.14620
ATTTCCATGGCCAAG | GTACTGATGGCTTTCTACCAGCTGGAGATCCTGGCTGAGGAAACA c.2040
I S M A K | V L M A F Y Q L E I L A E E T p.680
. . . . . . g.14680
ATTCTGAGCTGGTTCAGCCAAAGAGATACAACTGACAAGGGCCAGCAGTTGCGCAAGAAT c.2100
I L S W F S Q R D T T D K G Q Q L R K N p.700
| 16 . . . . . . g.14916
CAACAG | CTGCAGAGGTTCATCCAGTGGCTAAAAGAGGCAGAAGAGGAGTCATCTGAAGAT c.2160
Q Q | L Q R F I Q W L K E A E E E S S E D p.720
g.14922
GACTGA c.2166
D X p.721
. . . . . . g.14982
agtcacactgcctgctcctttgggtgtgattgagtgccctcctggctcctgggctgggac c.*60
. . . . . . g.15042
aagtgaggaactagctgcagagggatgagtgaccaccatccaggctgagactgaaaggag c.*120
. . . . . . g.15102
cagaggctggaactacagtattctttcccctgctagcaaccatgtgcctcccatcctgac c.*180
. . . . . . g.15162
tgtggagttgggatgtggaagtggggctggaacaaagcttctgcctagggaggagctaag c.*240
. . . . . . g.15222
caggcccggcagttggaggaaggccagaggaacagctttgtgctccggctttccctcagg c.*300
. . . . . . g.15282
gaacagcagagagcagttggctctttctgctgcttgtatatgttaatattaaaagagaga c.*360
g.15290
gtggtgta c.*368
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21c
©2004-2019 Leiden University Medical Center