(used for variant description)
(last modified March 3, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000118.3 in the ENG gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009551.1, covering ENG transcript NM_000118.3.
(upstream sequence)
. . . . . g.5053
acttcctctacccggttggcaggcggcctggcccagccccttctctaaggaagcgcat c.-361
. . . . . . g.5113
ttcctgcctccctgggccggccgggctggatgagccgggagctccctgctgccggtcata c.-301
. . . . . . g.5173
ccacagccttcatctgcgccctggggccaggactgctgctgtcactgccatccattggag c.-241
. . . . . . g.5233
cccagcaccccctccccgcccatccttcggacagcaactccagcccagccccgcgtccct c.-181
. . . . . . g.5293
gtgtccacttctcctgacccctcggccgccaccccagaaggctggagcagggacgccgtc c.-121
. . . . . . g.5353
gctccggccgcctgctcccctcgggtccccgtgcgagcccacgccggccccggtgcccgc c.-61
. . . . . . g.5413
ccgcagccctgccactggacacaggataaggcccagcgcacaggcccccacgtggacagc c.-1
. . . . . . g.5473
ATGGACCGCGGCACGCTCCCTCTGGCTGTTGCCCTGCTGCTGGCCAGCTGCAGCCTCAGC c.60
M D R G T L P L A V A L L L A S C S L S p.20
| 02. . . . . . g.16576
CCCACAA | GTCTTGCAGAAACAGTCCATTGTGACCTTCAGCCTGTGGGCCCCGAGAGGGGC c.120
P T S | L A E T V H C D L Q P V G P E R G p.40
. . . . . . g.16636
GAGGTGACATATACCACTAGCCAGGTCTCGAAGGGCTGCGTGGCTCAGGCCCCCAATGCC c.180
E V T Y T T S Q V S K G C V A Q A P N A p.60
. . . | 03 . . g.29962
ATCCTTGAAGTCCATGTCCTCTTCCTGGAGTTCCCAACG | GGCCCGTCACAGCTGGAGCTG c.240
I L E V H V L F L E F P T | G P S Q L E L p.80
. . . . . . g.30022
ACTCTCCAGGCATCCAAGCAAAATGGCACCTGGCCCCGAGAGGTGCTTCTGGTCCTCAGT c.300
T L Q A S K Q N G T W P R E V L L V L S p.100
. . . . . . g.30082
GTAAACAGCAGTGTCTTCCTGCATCTCCAGGCCCTGGGAATCCCACTGCACTTGGCCTAC c.360
V N S S V F L H L Q A L G I P L H L A Y p.120
| 04 . . . . . . g.33156
| AATTCCAGCCTGGTCACCTTCCAAGAGCCCCCGGGGGTCAACACCACAGAGCTGCCATCC c.420
| N S S L V T F Q E P P G V N T T E L P S p.140
. . . . . . g.33216
TTCCCCAAGACCCAGATCCTTGAGTGGGCAGCTGAGAGGGGCCCCATCACCTCTGCTGCT c.480
F P K T Q I L E W A A E R G P I T S A A p.160
. . . . | 05 . . g.33925
GAGCTGAATGACCCCCAGAGCATCCTCCTCCGACTGGGCCAAG | CCCAGGGGTCACTGTCC c.540
E L N D P Q S I L L R L G Q A | Q G S L S p.180
. . . . . . g.33985
TTCTGCATGCTGGAAGCCAGCCAGGACATGGGCCGCACGCTCGAGTGGCGGCCGCGTACT c.600
F C M L E A S Q D M G R T L E W R P R T p.200
. . . . . . g.34045
CCAGCCTTGGTCCGGGGCTGCCACTTGGAAGGCGTGGCCGGCCACAAGGAGGCGCACATC c.660
P A L V R G C H L E G V A G H K E A H I p.220
. . | 06 . . . g.34442
CTGAGGGTCCTGCCGGGCCACTCGGCCGG | GCCCCGGACGGTGACGGTGAAGGTGGAACTG c.720
L R V L P G H S A G | P R T V T V K V E L p.240
. . . . . . g.34502
AGCTGCGCACCCGGGGATCTCGATGCCGTCCTCATCCTGCAGGGTCCCCCCTACGTGTCC c.780
S C A P G D L D A V L I L Q G P P Y V S p.260
. . . | 07 . . . g.34818
TGGCTCATCGACGCCAACCACAACATGCAGATCTGG | ACCACTGGAGAATACTCCTTCAAG c.840
W L I D A N H N M Q I W | T T G E Y S F K p.280
. . . . . . g.34878
ATCTTTCCAGAGAAAAACATTCGTGGCTTCAAGCTCCCAGACACACCTCAAGGCCTCCTG c.900
I F P E K N I R G F K L P D T P Q G L L p.300
. . . . . . g.34938
GGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCC c.960
G E A R M L N A S I V A S F V E L P L A p.320
. . . | 08 . . . g.35351
AGCATTGTCTCACTTCATGCCTCCAGCTGCG | GTGGTAGGCTGCAGACCTCACCCGCACCG c.1020
S I V S L H A S S C G | G R L Q T S P A P p.340
. . . . . . g.35411
ATCCAGACCACTCCTCCCAAGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG c.1080
I Q T T P P K D T C S P E L L M S L I Q p.360
. . . . . | 09 . g.39737
ACAAAGTGTGCCGACGACGCCATGACCCTGGTACTAAAGAAAGAGCTTGTTGCG | CATTTG c.1140
T K C A D D A M T L V L K K E L V A | H L p.380
. . . . . . g.39797
AAGTGCACCATCACGGGCCTGACCTTCTGGGACCCCAGCTGTGAGGCAGAGGACAGGGGT c.1200
K C T I T G L T F W D P S C E A E D R G p.400
. . . . . . g.39857
GACAAGTTTGTCTTGCGCAGTGCTTACTCCAGCTGTGGCATGCAGGTGTCAGCAAGTATG c.1260
D K F V L R S A Y S S C G M Q V S A S M p.420
. | 10 . . . . | 11 . g.40945
ATCAGCAATGAG | GCGGTGGTCAATATCCTGTCGAGCTCATCACCACAGCGG | AAAAAGGTG c.1320
I S N E | A V V N I L S S S S P Q R | K K V p.440
. . . . . . g.41005
CACTGCCTCAACATGGACAGCCTCTCTTTCCAGCTGGGCCTCTACCTCAGCCCACACTTC c.1380
H C L N M D S L S F Q L G L Y L S P H F p.460
. . . . | 12 . g.41403
CTCCAGGCCTCCAACACCATCGAGCCGGGGCAGCAGAGCTTTGTGCAG | GTCAGAGTGTCC c.1440
L Q A S N T I E P G Q Q S F V Q | V R V S p.480
. . . . . . g.41463
CCATCCGTCTCCGAGTTCCTGCTCCAGTTAGACAGCTGCCACCTGGACTTGGGGCCTGAG c.1500
P S V S E F L L Q L D S C H L D L G P E p.500
. . . . . . g.41523
GGAGGCACCGTGGAACTCATCCAGGGCCGGGCGGCCAAGGGCAACTGTGTGAGCCTGCTG c.1560
G G T V E L I Q G R A A K G N C V S L L p.520
. . . . . . g.41583
TCCCCAAGCCCCGAGGGTGACCCGCGCTTCAGCTTCCTCCTCCACTTCTACACAGTACCC c.1620
S P S P E G D P R F S F L L H F Y T V P p.540
. . . . . . g.41643
ATACCCAAAACCGGCACCCTCAGCTGCACGGTAGCCCTGCGTCCCAAGACCGGGTCTCAA c.1680
I P K T G T L S C T V A L R P K T G S Q p.560
| 13 . . . . . . g.42619
GACCAG | GAAGTCCATAGGACTGTCTTCATGCGCTTGAACATCATCAGCCCTGACCTGTCT c.1740
D Q | E V H R T V F M R L N I I S P D L S p.580
| 14 . . . . . . g.43774
G | GTTGCACAAGCAAAGGCCTCGTCCTGCCCGCCGTGCTGGGCATCACCTTTGGTGCCTTC c.1800
G | C T S K G L V L P A V L G I T F G A F p.600
. . . . . . g.43834
CTCATCGGGGCCCTGCTCACTGCTGCACTCTGGTACATCTACTCGCACACGCGTGAGTAC c.1860
L I G A L L T A A L W Y I Y S H T R E Y p.620
. g.43852
CCCAGGCCCCCACAGTGA c.1878
P R P P Q X p.625
. . . . . . g.43912
gcatgccgggcccctccatccacccgggggagcccagtgaagcctctgagggattgaggg c.*60
. . . . . . g.43972
gccctggccaggaccctgacctccgcccctgcccccgctcccgctcccaggttcccccag c.*120
. . . . . . g.44032
caagcgggagcccgtggtggcggtggctgccccggcctcctcggagagcagcagcaccaa c.*180
. . . . . . g.44092
ccacagcatcgggagcacccagagcaccccctgctccaccagcagcatggcatagccccg c.*240
. . . . . . g.44152
gccccccgcgctcgcccagcaggagagactgagcagccgccagctgggagcactggtgtg c.*300
. . . . . . g.44212
aactcaccctgggagccagtcctccactcgacccagaatggagcctgctctccgcgccta c.*360
. . . . . . g.44272
cccttcccgcctccctctcagaggcctgctgccagtgcagccactggcttggaacacctt c.*420
. . . . . . g.44332
ggggtccctccaccccacagaaccttcaacccagtgggtctgggatatggctgcccagga c.*480
. . . . . . g.44392
gacagaccacttgccacgctgttgtaaaaacccaagtccctgtcatttgaacctggatcc c.*540
. . . . . . g.44452
agcactggtgaactgagctgggcaggaagggagaacttgaaacagattcaggccagccca c.*600
. . . . . . g.44512
gccaggccaacagcacctccccgctgggaagagaagagggcccagcccagagccacctgg c.*660
. . . . . . g.44572
atctatccctgcggcctccacacctgaacttgcctaactaactggcaggggagacaggag c.*720
. . . . . . g.44632
cctagcggagcccagcctgggagcccagagggtggcaagaacagtgggcgttgggagcct c.*780
. . . . . . g.44692
agctcctgccacatggagccccctctgccggtcgggcagccagcagagggggagtagcca c.*840
. . . . . . g.44752
agctgcttgtcctgggcctgcccctgtgtattcaccaccaataaatcagaccatgaaacc c.*900
g.44757
agtga c.*905
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center