(used for variant description)
(last modified January 4, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_021937.3 in the EEFSEC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering EEFSEC transcript NM_021937.3.
(upstream sequence)
. . . g.5038
gggcgggccgggcgggtgtccgaggcggcggcggcggc c.-1
. . . . . . g.5098
ATGGCAGGGCGGCGGGTGAACGTGAACGTGGGCGTGCTGGGCCACATCGACAGCGGCAAG c.60
M A G R R V N V N V G V L G H I D S G K p.20
. . . . . . g.5158
ACGGCGCTGGCGCGGGCGCTAAGCACCACAGCCTCCACCGCCGCCTTTGACAAGCAGCCG c.120
T A L A R A L S T T A S T A A F D K Q P p.40
. . . . . . g.5218
CAGAGCCGCGAGCGCGGCATCACGCTCGATCTGGGCTTCTCGTGCTTCTCGGTGCCGCTG c.180
Q S R E R G I T L D L G F S C F S V P L p.60
. . . . . . g.5278
CCCGCGCGCCTGCGGTCGTCTTTGCCCGAGTTCCAGGCAGCGCCCGAGGCCGAGCCCGAG c.240
P A R L R S S L P E F Q A A P E A E P E p.80
. . . . . . g.5338
CCCGGCGAGCCACTGCTTCAGGTCACGCTGGTCGACTGCCCCGGGCACGCCTCCCTCATC c.300
P G E P L L Q V T L V D C P G H A S L I p.100
. | 02 . . . . . g.98410
CGGACCATCATCGGCG | GGGCCCAGATCATTGATCTGATGATGCTGGTCATCGATGTGACC c.360
R T I I G G | A Q I I D L M M L V I D V T p.120
. . . . . . g.98470
AAGGGGATGCAGACCCAGTCAGCGGAATGCCTTGTGATCGGCCAGATTGCCTGCCAGAAG c.420
K G M Q T Q S A E C L V I G Q I A C Q K p.140
. . . . . . g.98530
CTGGTCGTGGTGCTGAACAAAATAGACCTCTTACCTGAAGGAAAGAGACAGGCAGCAATT c.480
L V V V L N K I D L L P E G K R Q A A I p.160
. . . . | 03 . . g.113674
GATAAAATGACCAAGAAAATGCAGAAGACCCTAGAGAACACCAA | GTTCCGAGGTGCACCG c.540
D K M T K K M Q K T L E N T K | F R G A P p.180
. . . . . . g.113734
ATTATACCCGTGGCGGCCAAGCCGGGGGGACCAGAGGCCCCCGAAACTGAAGCTCCACAG c.600
I I P V A A K P G G P E A P E T E A P Q p.200
. . | 04 . . . . g.116186
GGCATTCCAGAGCTCATTGAG | CTCCTGACGTCCCAGATTTCCATCCCAACGAGAGATCCC c.660
G I P E L I E | L L T S Q I S I P T R D P p.220
. . . . . . g.116246
TCGGGACCGTTCCTCATGTCTGTGGACCACTGTTTCTCCATCAAAGGCCAAGGCACTGTG c.720
S G P F L M S V D H C F S I K G Q G T V p.240
. . . . . . g.116306
ATGACAGGGACCATCCTTTCAGGCTCCATCAGCCTCGGTGACAGTGTGGAGATCCCTGCC c.780
M T G T I L S G S I S L G D S V E I P A p.260
| 05 . . . . . . g.192817
CTCAAG | GTGGTGAAGAAGGTGAAGTCCATGCAGATGTTCCACATGCCCATCACTTCAGCC c.840
L K | V V K K V K S M Q M F H M P I T S A p.280
. . . . . . g.192877
ATGCAAGGAGACCGGCTGGGCATCTGCGTCACCCAGTTTGACCCTAAGCTGCTGGAGCGC c.900
M Q G D R L G I C V T Q F D P K L L E R p.300
. . . . . . g.192937
GGGTTGGTGTGTGCCCCCGAGTCCCTGCACACTGTCCATGCGGCCCTCATCTCTGTGGAA c.960
G L V C A P E S L H T V H A A L I S V E p.320
. . . . . . g.192997
AAGATACCGTATTTCCGGGGGCCCCTGCAAACCAAGGCCAAGTTCCACATTACAGTGGGC c.1020
K I P Y F R G P L Q T K A K F H I T V G p.340
. . . . . . g.193057
CATGAAACAGTCATGGGCCGGTTGATGTTCTTCAGTCCTGCTCCAGATAACTTTGACCAG c.1080
H E T V M G R L M F F S P A P D N F D Q p.360
. . . . . . g.193117
GAGCCTATACTGGACTCTTTCAACTTCTCTCAAGAATACCTTTTCCAGGAGCAGTACCTG c.1140
E P I L D S F N F S Q E Y L F Q E Q Y L p.380
. . . . . . g.193177
TCCAAGGATTTGACACCAGCAGTGACAGACAATGATGAGGCCGACAAGAAGGCCGGCCAG c.1200
S K D L T P A V T D N D E A D K K A G Q p.400
. . . . . . g.193237
GCCACAGAGGGCCATTGTCCTCGGCAGCAGTGGGCCCTGGTGGAGTTTGAGAAGCCCGTC c.1260
A T E G H C P R Q Q W A L V E F E K P V p.420
. . . . . . g.193297
ACCTGCCCTCGGCTGTGCCTGGTGATTGGCTCCAGGCTAGATGCGGACATTCACACCAAC c.1320
T C P R L C L V I G S R L D A D I H T N p.440
. . . . . . g.193357
ACGTGCCGGCTAGCCTTCCATGGCATCCTGCTCCACGGGCTAGAGGACAGGAACTACGCC c.1380
T C R L A F H G I L L H G L E D R N Y A p.460
. . . . . . g.193417
GACAGCTTCCTGCCCAGGCTGAAGGTGTACAAGCTGAAGCACAAGCATGGCCTTGTGGAG c.1440
D S F L P R L K V Y K L K H K H G L V E p.480
| 06 . . . . . . g.209804
CGG | GCGATGGATGACTACAGTGTGATCGGCCGCTCCCTGTTCAAAAAGGAAACCAACATC c.1500
R | A M D D Y S V I G R S L F K K E T N I p.500
. . . . . . g.209864
CAGCTCTTCGTGGGGCTCAAGGTGCACTTGTCCACTGGGGAACTGGGCATCATCGACAGT c.1560
Q L F V G L K V H L S T G E L G I I D S p.520
. . . . | 07 . . g.259619
GCCTTCGGCCAGAGCGGCAAGTTCAAGATCCACATCCCAG | GTGGCCTCAGCCCCGAGTCC c.1620
A F G Q S G K F K I H I P G | G L S P E S p.540
. . . . . . g.259679
AAGAAGATCCTGACACCCGCCCTCAAGAAGCGGGCCCGGGCTGGCCGTGGGGAGGCCACC c.1680
K K I L T P A L K K R A R A G R G E A T p.560
. . . . . . g.259739
AGGCAGGAGGAGAGCGCCGAGCGGAGCGAGCCCTCACAGCATGTGGTGCTCAGCCTGACT c.1740
R Q E E S A E R S E P S Q H V V L S L T p.580
. . . . . g.259790
TTCAAGCGTTATGTCTTCGACACCCACAAGCGCATGGTTCAGTCTCCCTGA c.1791
F K R Y V F D T H K R M V Q S P X p.596
. . . . . . g.259850
gtgtccggtgacctcccccagggcctccttgcccagcccagtccaggctgctgtgccaaa c.*60
. . . . . . g.259910
tcccaaccagccacgcctcagcctctcccagtctctccctgcagtcctgcagcagcagcc c.*120
. . . . . . g.259970
cccacccccaagcttggtgctgagccctggtgaggagctgagggggatgggttgctgggg c.*180
. . . . . . g.260030
ccaggagggtctctcctccagcccctgcacactcccacccaggacagcccccagcccaac c.*240
. . . . . . g.260090
taggaaagggccatgggcagagggctggtagccagtatcttccactgccccatctgttgg c.*300
. . . . . . g.260150
ccacctgcaggccagtctcaaccctcccccaggtgggcaggcacttgatggctacaaata c.*360
. . g.260177
aatgtcccgtggccccagcccactcta c.*387
(downstream sequence)
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