(used for variant description)
(last modified October 26, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_003797.3 in the EED gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029595.1, covering EED transcript NM_003797.3.
(upstream sequence)
. . . . g.5046
tttcgctccctagcagcgggtcggagatcgaaggaacgggccaatt c.-421
. . . . . . g.5106
gcggctgaaacgtctttggaaggaggaagggggtgagggagcatccctttgagtttcgcc c.-361
. . . . . . g.5166
tcttctcgaggcggtggtgggaagggagacatacttaatactgccctcttaatccaacgg c.-301
. . . . . . g.5226
accttacatcgtgtagactgccgggagggcggcgggaaaagggcaagacgggagttgggg c.-241
. . . . . . g.5286
aagggaaggagccaggaagccgcgcgggagggcgcgcgcgcgcgcccctttttcagcagt c.-181
. . . . . . g.5346
gtggcggggtcgcacgcacgcccgcctcggcggctgggcgcgatttgcgacagtgggggg c.-121
. . . . . . g.5406
ggcggtggaggtggcggcggcagcggcaactttgcggcaagctcgggccgggcttgcttg c.-61
. . . . . . g.5466
acggcggtgtggcggaggccccgccccaggcggcaggaacctggagggaggcggaggaat c.-1
. . . . . . g.5526
ATGTCCGAGAGGGAAGTGTCGACTGCGCCGGCGGGAACAGACATGCCTGCGGCCAAGAAG c.60
M S E R E V S T A P A G T D M P A A K K p.20
. . . . . | 02 . g.10538
CAGAAGCTGAGCAGTGACGAGAACAGCAATCCAGACCTCTCTGGAGACGAGAAT | GATGAC c.120
Q K L S S D E N S N P D L S G D E N | D D p.40
. . . . . . g.10598
GCTGTCAGTATAGAAAGTGGTACAAACACTGAACGCCCTGATACACCTACAAACACGCCA c.180
A V S I E S G T N T E R P D T P T N T P p.60
. . . . . . g.10658
AATGCACCTGGAAGGAAAAGTTGGGGAAAGGGAAAATGGAAGTCAAAGAAATGCAAATAT c.240
N A P G R K S W G K G K W K S K K C K Y p.80
. . | 03. . . . g.12417
TCTTTCAAATGTGTAAATAGTCTCAAG | GAAGATCATAACCAACCATTGTTTGGAGTTCAG c.300
S F K C V N S L K | E D H N Q P L F G V Q p.100
. . . . . . g.12477
TTTAACTGGCACAGTAAAGAAGGAGATCCATTAGTGTTTGCAACTGTAGGAAGCAACAGA c.360
F N W H S K E G D P L V F A T V G S N R p.120
| 04 . . . . . . g.15518
| GTTACCTTGTATGAATGTCATTCACAAGGAGAAATCCGGTTGTTGCAATCTTACGTGGAT c.420
| V T L Y E C H S Q G E I R L L Q S Y V D p.140
| 05 . . . . . . g.16677
GCTGAT | GCTGATGAAAACTTTTACACTTGTGCATGGACCTATGATAGCAATACGAGCCAT c.480
A D | A D E N F Y T C A W T Y D S N T S H p.160
. . . . . . g.16737
CCTCTGCTGGCTGTAGCTGGATCTAGAGGCATAATTAGGATAATAAATCCTATAACAATG c.540
P L L A V A G S R G I I R I I N P I T M p.180
. | 06 . . . . . g.17799
CAGTGTATAAAG | CACTATGTTGGCCATGGAAATGCTATCAATGAGCTGAAATTCCATCCA c.600
Q C I K | H Y V G H G N A I N E L K F H P p.200
. . . | 07 . . . g.24434
AGAGATCCAAATCTTCTCCTGTCAGTAAGTAAAG | ATCATGCTTTACGATTATGGAATATC c.660
R D P N L L L S V S K D | H A L R L W N I p.220
. . . . . . g.24494
CAGACGGACACTCTGGTGGCAATATTTGGAGGCGTAGAAGGGCACAGAGATGAAGTTCTA c.720
Q T D T L V A I F G G V E G H R D E V L p.240
| 08 . . . . . . g.26373
AGTGCT | GATTATGATCTTTTGGGTGAAAAAATAATGTCCTGTGGTATGGATCATTCTCTT c.780
S A | D Y D L L G E K I M S C G M D H S L p.260
. . . . . . g.26433
AAACTTTGGAGGATCAATTCAAAGAGAATGATGAATGCAATTAAGGAATCTTATGATTAT c.840
K L W R I N S K R M M N A I K E S Y D Y p.280
. . | 09 . . . . g.28732
AATCCAAATAAAACTAACAG | GCCATTTATTTCTCAGAAAATCCATTTTCCTGATTTTTCT c.900
N P N K T N R | P F I S Q K I H F P D F S p.300
. . . . . . g.28792
ACCAGAGACATACATAGGAATTATGTTGATTGTGTGCGATGGTTAGGCGATTTGATACTT c.960
T R D I H R N Y V D C V R W L G D L I L p.320
| 10 . . . . . . g.37270
TCTAAG | TCTTGTGAAAATGCCATTGTGTGCTGGAAACCTGGCAAGATGGAAGATGATATA c.1020
S K | S C E N A I V C W K P G K M E D D I p.340
. . . . . . g.37330
GATAAAATTAAACCCAGTGAATCTAATGTGACTATTCTTGGGCGATTTGATTACAGCCAG c.1080
D K I K P S E S N V T I L G R F D Y S Q p.360
. . . . | 11 . . g.38169
TGTGACATTTGGTACATGAGGTTTTCTATGGATTTCTGGCAAAAG | ATGCTTGCATTGGGC c.1140
C D I W Y M R F S M D F W Q K | M L A L G p.380
. . . . . | 12 g.38636
AATCAAGTTGGCAAACTTTATGTTTGGGATTTAGAAGTAGAAGATCCTCATAAAGCCAA | A c.1200
N Q V G K L Y V W D L E V E D P H K A K | p.400
. . . . . . g.38696
TGTACAACACTGACTCATCATAAATGTGGTGCTGCTATTCGACAAACCAGTTTTAGCAGG c.1260
C T T L T H H K C G A A I R Q T S F S R p.420
. . . . . . g.38756
GATAGCAGCATTCTTATAGCTGTTTGTGATGATGCCAGTATTTGGCGCTGGGATCGACTT c.1320
D S S I L I A V C D D A S I W R W D R L p.440
g.38762
CGATAA c.1326
R X p.441
. . . . . . g.38822
aatacttttgcctaatcaaaattagagtgtgtttgttgtctgtgtaaaatagaattaatg c.*60
. . . . . . g.38882
tatcttgctagtaagggcacgtagagcatttagagttgtctttcagcattcaatcaggct c.*120
. . . . . . g.38942
gagctgaatgtagtgatgtttacattgtttacattctttgtactgtcttcctgctcagac c.*180
. . . g.38980
tctactgcttttaataaaaatttatttttgtaaagctg c.*218
(downstream sequence)
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