(used for variant description)
(last modified October 31, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_003379.4 in the EZR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering EZR transcript NM_003379.4.
(upstream sequence)
. . . g.6151
agtgctgggcggggcgctgactcacccgggcccgg c.-181
. . . . . . g.6211
gctggccggttcttaagcggcagcgcgctgcgggcgccgagtgtcgggcgcggcaggagg c.-121
. . . . . . g.6271
acgaggcagggcgggcgggcgctctaagggttctgctctgactccaggttgggacagcgt c.-61
. . . . . . g.6331
cttcgctgctgctggatagtcgtgttttcggggatcgaggatactcaccagaaaccgaaa c.-1
. | 02 . . . . . g.35101
ATGCCGAAACCA | ATCAATGTCCGAGTTACCACCATGGATGCAGAGCTGGAGTTTGCAATC c.60
M P K P | I N V R V T T M D A E L E F A I p.20
. . . | 03 . . . g.37245
CAGCCAAATACAACTGGAAAACAGCTTTTTGATCAG | GTGGTAAAGACTATCGGCCTCCGG c.120
Q P N T T G K Q L F D Q | V V K T I G L R p.40
. . . . . . g.37305
GAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAG c.180
E V W Y F G L H Y V D N K G F P T W L K p.60
. | 04 . . . . . g.38889
CTGGATAAGAAG | GTGTCTGCCCAGGAGGTCAGGAAGGAGAATCCCCTCCAGTTCAAGTTC c.240
L D K K | V S A Q E V R K E N P L Q F K F p.80
. . . . . . g.38949
CGGGCCAAGTTCTACCCTGAAGATGTGGCTGAGGAGCTCATCCAGGACATCACCCAGAAA c.300
R A K F Y P E D V A E E L I Q D I T Q K p.100
. . . . . . g.39009
CTTTTCTTCCTCCAAGTGAAGGAAGGAATCCTTAGCGATGAGATCTACTGCCCCCCTGAG c.360
L F F L Q V K E G I L S D E I Y C P P E p.120
. . . . . . g.39069
ACTGCCGTGCTCTTGGGGTCCTACGCTGTGCAGGCCAAGTTTGGGGACTACAACAAAGAA c.420
T A V L L G S Y A V Q A K F G D Y N K E p.140
. . . . | 05. . g.39710
GTGCACAAGTCTGGGTACCTCAGCTCTGAGCGGCTGATCCCTCAAAG | AGTGATGGACCAG c.480
V H K S G Y L S S E R L I P Q R | V M D Q p.160
. . . . . . g.39770
CACAAACTTACCAGGGACCAGTGGGAGGACCGGATCCAGGTGTGGCATGCGGAACACCGT c.540
H K L T R D Q W E D R I Q V W H A E H R p.180
. | 06 . . . . . g.40807
GGGATGCTCAA | AGATAATGCTATGTTGGAATACCTGAAGATTGCTCAGGACCTGGAAATG c.600
G M L K | D N A M L E Y L K I A Q D L E M p.200
. . . . . . g.40867
TATGGAATCAACTATTTCGAGATAAAAAACAAGAAAGGAACAGACCTTTGGCTTGGAGTT c.660
Y G I N Y F E I K N K K G T D L W L G V p.220
. . . | 07 . . g.47942
GATGCCCTTGGACTGAATATTTATGAGAAAGATGATAA | GTTAACCCCAAAGATTGGCTTT c.720
D A L G L N I Y E K D D K | L T P K I G F p.240
. . . . . . g.48002
CCTTGGAGTGAAATCAGGAACATCTCTTTCAATGACAAAAAGTTTGTCATTAAACCCATC c.780
P W S E I R N I S F N D K K F V I K P I p.260
. | 08 . . . . . g.53062
GACAAGAAGGCACCT | GACTTTGTGTTTTATGCCCCACGTCTGAGAATCAACAAGCGGATC c.840
D K K A P | D F V F Y A P R L R I N K R I p.280
. . . . . . g.53122
CTGCAGCTCTGCATGGGCAACCATGAGTTGTATATGCGCCGCAGGAAGCCTGACACCATC c.900
L Q L C M G N H E L Y M R R R K P D T I p.300
. . . . . | 09 g.53531
GAGGTGCAGCAGATGAAGGCCCAGGCCCGGGAGGAGAAGCATCAGAAGCAGCTGGAGCG | G c.960
E V Q Q M K A Q A R E E K H Q K Q L E R | p.320
. . . . . . g.53591
CAACAGCTGGAAACAGAGAAGAAAAGGAGAGAAACCGTGGAGAGAGAGAAAGAGCAGATG c.1020
Q Q L E T E K K R R E T V E R E K E Q M p.340
. . . . . . g.53651
ATGCGCGAGAAGGAGGAGTTGATGCTGCGGCTGCAGGACTATGAGGAGAAGACAAAGAAG c.1080
M R E K E E L M L R L Q D Y E E K T K K p.360
. | 10 . . . . . g.54530
GCAGAGAGAG | AGCTCTCGGAGCAGATTCAGAGGGCCCTGCAGCTGGAGGAGGAGAGGAAG c.1140
A E R E | L S E Q I Q R A L Q L E E E R K p.380
. . . . . . g.54590
CGGGCACAGGAGGAGGCCGAGCGCCTAGAGGCTGACCGTATGGCTGCACTGCGGGCTAAG c.1200
R A Q E E A E R L E A D R M A A L R A K p.400
. . . . . | 11 . g.55015
GAGGAGCTGGAGAGACAGGCGGTGGATCAGATAAAGAGCCAGGAGCAGCTG | GCTGCGGAG c.1260
E E L E R Q A V D Q I K S Q E Q L | A A E p.420
. . . . . . g.55075
CTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGAT c.1320
L A E Y T A K I A L L E E A R R R K E D p.440
. . | 12 . . . . g.56948
GAAGTTGAAGAGTGGCAGCACAGG | GCCAAAGAAGCCCAGGATGACCTGGTGAAGACCAAG c.1380
E V E E W Q H R | A K E A Q D D L V K T K p.460
. . . . . . g.57008
GAGGAGCTGCACCTGGTGATGACAGCACCCCCGCCCCCACCACCCCCCGTGTACGAGCCG c.1440
E E L H L V M T A P P P P P P P V Y E P p.480
. . . . . . g.57068
GTGAGCTACCATGTCCAGGAGAGCTTGCAGGATGAGGGCGCAGAGCCCACGGGCTACAGC c.1500
V S Y H V Q E S L Q D E G A E P T G Y S p.500
. . . . . . g.57128
GCGGAGCTGTCTAGTGAGGGCATCCGGGATGACCGCAATGAGGAGAAGCGCATCACTGAG c.1560
A E L S S E G I R D D R N E E K R I T E p.520
. . . | 13 . . . g.57370
GCAGAGAAGAACGAGCGTGTGCAGCGGCAGCTGCTG | ACGCTGAGCAGCGAGCTGTCCCAG c.1620
A E K N E R V Q R Q L L | T L S S E L S Q p.540
. . . . . . g.57430
GCCCGAGATGAGAATAAGAGGACCCACAATGACATCATCCACAACGAGAACATGAGGCAA c.1680
A R D E N K R T H N D I I H N E N M R Q p.560
. . . . . . g.57490
GGCCGGGACAAGTACAAGACGCTGCGGCAGATCCGGCAGGGCAACACCAAGCAGCGCATC c.1740
G R D K Y K T L R Q I R Q G N T K Q R I p.580
. . g.57511
GACGAGTTCGAGGCCCTGTAA c.1761
D E F E A L X p.586
. . . . . . g.57571
cagccaggccaggaccaagggcagaggggtgctcatagcgggcgctgccagccccgccac c.*60
. . . . . . g.57631
gcttgtgtctttagtgctccaagtctaggaactccctcagatcccagttcctttagaaag c.*120
. . . . . . g.57691
cagttacccaacagaaacattctgggctgggaaccagggaggcgccctggtttgttttcc c.*180
. . . . . . g.57751
ccagttgtaatagtgccaagcaggcctgattctcgcgattattctcgaatcacctcctgt c.*240
. . . . . . g.57811
gttgtgctgggagcaggactgattgaattacggaaaatgcctgtaaagtctgagtaagaa c.*300
. . . . . . g.57871
acttcatgctggcctgtgtgatacaagagtcagcatcattaaaggaaacgtggcaggact c.*360
. . . . . . g.57931
tccatctgtgccatacttgttctgtattcgaaatgagctcaaattgattttttaatttct c.*420
. . . . . . g.57991
atgaaggatccatctttgtatatttacatgcttagaggggtgaaaattattttggaaatt c.*480
. . . . . . g.58051
gagtctgaagcactctcgcacacacagtgattccctcctcccgtcactccacgcagctgg c.*540
. . . . . . g.58111
cagagagcacagtgatcaccagcgtgagtggtggaggaggacacttggattttttttttt c.*600
. . . . . . g.58171
gttttttttttttttgcttaacagttttagaatacattgtacttatacaccttattaatg c.*660
. . . . . . g.58231
atcagctatatactatttatatacaagtgataatacagatttgtaacattagttttaaaa c.*720
. . . . . . g.58291
agggaaagttttgttctgtatattttgttaccttttacagaataaaagaattacatatga c.*780
. . . . . . g.58351
aaaaccctctaaaccatggcacttgatgtgatgtggcaggagggcagtggtggagctgga c.*840
. . . . . . g.58411
cctgcctgctgcagtcacgtgtaaacaggattattattagtgttttatgcatgtaatgga c.*900
. . . . . . g.58471
ctatgcacacttttaattttgtcagattcacacatgccactatgagctttcagactccag c.*960
. . . . . . g.58531
ctgtgaagagactctgtttgcttgtgtttgtttgtttgcagtctctctctgccatggcct c.*1020
. . . . . . g.58591
tggcaggctgctggaaggcagcttgtggaggccgttggttccgcccactcattccttctc c.*1080
. . . . . . g.58651
gtgcactgctttctccttcacagctaagatgccatgtgcaggtggattccatgccgcaga c.*1140
. . . g.58684
catgaaataaaagctttgcaaaggcacgaagca c.*1173
(downstream sequence)
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