(used for variant description)
(last modified January 10, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005612.4 in the REST gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029447.1, covering REST transcript NM_005612.4.
(upstream sequence)
. . . . g.5047
ggcggcggcggcggcgcggactgggtgcgcggcgcagcgtcctgtgt c.-301
. . . . . . g.5107
tggaatgtgcggctgccgcgagctcgcggcgcagcagcggagcgagcgccgccgaggccc c.-241
. . . . . . g.5167
ggggccccagaccctggcggcggctgccgcagccgagacggcagggcgaggcccggaggc c.-181
. . . . . . g.5227
ctgagcaccctctgcagccccactcctgggccttcttggtccacgacggccccagcaccc c.-121
. . . . . . g.5287
aactttaccaccctcccccacctctcccccgaaactccagcaacaaagaaaagtagtcgg c.-61
. . . . . . | 02 g.7763
agaaggagcggcgactcagggtcgcccgcccctcctcaccgaggaaggccg | aatacagtt c.-1
. . . . . . g.7823
ATGGCCACCCAGGTAATGGGGCAGTCTTCTGGAGGAGGAGGGCTGTTTACCAGCAGTGGC c.60
M A T Q V M G Q S S G G G G L F T S S G p.20
. . . . . . g.7883
AACATTGGAATGGCCCTGCCTAACGACATGTATGACTTGCATGACCTTTCCAAAGCTGAA c.120
N I G M A L P N D M Y D L H D L S K A E p.40
. . . . . . g.7943
CTGGCCGCACCTCAGCTTATTATGCTGGCAAATGTGGCCTTAACTGGGGAAGTAAATGGC c.180
L A A P Q L I M L A N V A L T G E V N G p.60
. . . . . . g.8003
AGCTGCTGTGATTACCTGGTCGGTGAAGAAAGACAGATGGCAGAACTGATGCCGGTTGGG c.240
S C C D Y L V G E E R Q M A E L M P V G p.80
. . . . . . g.8063
GATAACAACTTTTCAGATAGTGAAGAAGGAGAAGGACTTGAAGAGTCTGCTGATATAAAA c.300
D N N F S D S E E G E G L E E S A D I K p.100
. . . . . . g.8123
GGTGAACCTCATGGACTGGAAAACATGGAACTGAGAAGTTTGGAACTCAGCGTCGTAGAA c.360
G E P H G L E N M E L R S L E L S V V E p.120
. . . . . . g.8183
CCTCAGCCTGTATTTGAGGCATCAGGTGCTCCAGATATTTACAGTTCAAATAAAGATCTT c.420
P Q P V F E A S G A P D I Y S S N K D L p.140
. . . . . . g.8243
CCCCCTGAAACACCTGGAGCGGAGGACAAAGGCAAGAGCTCGAAGACCAAACCCTTTCGC c.480
P P E T P G A E D K G K S S K T K P F R p.160
. . . . . . g.8303
TGTAAGCCATGCCAATATGAAGCAGAATCTGAAGAACAGTTTGTGCATCACATCAGAGTT c.540
C K P C Q Y E A E S E E Q F V H H I R V p.180
. . . . . . g.8363
CACAGTGCTAAGAAATTTTTTGTGGAAGAGAGTGCAGAGAAGCAGGCAAAAGCCAGGGAA c.600
H S A K K F F V E E S A E K Q A K A R E p.200
. . . . . . g.8423
TCTGGCTCTTCCACTGCAGAAGAGGGAGATTTCTCCAAGGGCCCCATTCGCTGTGACCGC c.660
S G S S T A E E G D F S K G P I R C D R p.220
. . . . . . g.8483
TGCGGCTACAATACTAATCGATATGATCACTATACAGCACACCTGAAACACCACACCAGA c.720
C G Y N T N R Y D H Y T A H L K H H T R p.240
. . . . . . g.8543
GCTGGGGATAATGAGCGAGTCTACAAGTGTATCATTTGCACATACACAACAGTGAGCGAG c.780
A G D N E R V Y K C I I C T Y T T V S E p.260
. . . . . . g.8603
TATCACTGGAGGAAACATTTAAGAAACCATTTTCCAAGGAAAGTATACACATGTGGAAAA c.840
Y H W R K H L R N H F P R K V Y T C G K p.280
. . . . . | 03 g.16913
TGCAACTATTTTTCAGACAGAAAAAACAATTATGTTCAGCATGTTAGAACTCATACAG | GA c.900
C N Y F S D R K N N Y V Q H V R T H T G | p.300
. . . . . . g.16973
GAACGCCCATATAAATGTGAACTTTGTCCTTACTCAAGTTCTCAGAAGACTCATCTAACT c.960
E R P Y K C E L C P Y S S S Q K T H L T p.320
. . | 04 . . . . g.27003
AGACATATGCGTACTCATTCAG | GTGAGAAGCCATTTAAATGTGATCAGTGCAGTTATGTG c.1020
R H M R T H S G | E K P F K C D Q C S Y V p.340
. . . . . . g.27063
GCCTCTAATCAACATGAAGTAACCCGCCATGCAAGACAGGTTCACAATGGGCCTAAACCT c.1080
A S N Q H E V T R H A R Q V H N G P K P p.360
. . . . . . g.27123
CTTAATTGCCCACACTGTGATTACAAAACAGCAGATAGAAGCAACTTCAAAAAACATGTA c.1140
L N C P H C D Y K T A D R S N F K K H V p.380
. . . . . . g.27183
GAGCTACATGTGAACCCACGGCAGTTCAATTGCCCTGTATGTGACTATGCAGCTTCCAAG c.1200
E L H V N P R Q F N C P V C D Y A A S K p.400
. . . . . . g.27243
AAGTGTAATCTACAGTATCACTTCAAATCTAAGCATCCTACTTGTCCTAATAAAACAATG c.1260
K C N L Q Y H F K S K H P T C P N K T M p.420
. . . . . . g.27303
GATGTCTCAAAAGTGAAACTAAAGAAAACCAAAAAACGAGAGGCTGACTTGCCTGATAAT c.1320
D V S K V K L K K T K K R E A D L P D N p.440
. . . . . . g.27363
ATTACCAATGAAAAAACAGAAATAGAACAAACAAAAATAAAAGGGGATGTGGCTGGAAAG c.1380
I T N E K T E I E Q T K I K G D V A G K p.460
. . . . . . g.27423
AAAAATGAAAAGTCCGTCAAAGCAGAGAAAAGAGATGTCTCAAAAGAGAAAAAGCCTTCT c.1440
K N E K S V K A E K R D V S K E K K P S p.480
. . . . . . g.27483
AATAATGTGTCAGTGATCCAGGTGACTACCAGAACTCGAAAATCAGTAACAGAGGTGAAA c.1500
N N V S V I Q V T T R T R K S V T E V K p.500
. . . . . . g.27543
GAGATGGATGTGCATACAGGAAGCAATTCAGAAAAATTCAGTAAAACTAAGAAAAGCAAA c.1560
E M D V H T G S N S E K F S K T K K S K p.520
. . . . . . g.27603
AGGAAGCTGGAAGTTGACAGCCATTCTTTACATGGTCCTGTGAATGATGAGGAATCTTCA c.1620
R K L E V D S H S L H G P V N D E E S S p.540
. . . . . . g.27663
ACAAAAAAGAAAAAGAAGGTAGAAAGCAAATCCAAAAATAATAGTCAGGAAGTGCCAAAG c.1680
T K K K K K V E S K S K N N S Q E V P K p.560
. . . . . . g.27723
GGTGACAGCAAAGTGGAGGAGAATAAAAAGCAAAATACTTGCATGAAAAAAAGTACAAAG c.1740
G D S K V E E N K K Q N T C M K K S T K p.580
. . . . . . g.27783
AAGAAAACTCTGAAAAATAAATCAAGTAAGAAAAGCAGTAAGCCTCCTCAGAAGGAACCT c.1800
K K T L K N K S S K K S S K P P Q K E P p.600
. . . . . . g.27843
GTTGAGAAGGGATCTGCTCAGATGGACCCTCCTCAGATGGGGCCTGCTCCCACAGAGGCG c.1860
V E K G S A Q M D P P Q M G P A P T E A p.620
. . . . . . g.27903
GTTCAGAAGGGGCCCGTTCAGGTGGAGCCGCCACCTCCCATGGAGCATGCTCAGATGGAG c.1920
V Q K G P V Q V E P P P P M E H A Q M E p.640
. . . . . . g.27963
GGTGCCCAGATACGGCCTGCTCCTGACGAGCCTGTTCAGATGGAGGTGGTTCAGGAGGGG c.1980
G A Q I R P A P D E P V Q M E V V Q E G p.660
. . . . . . g.28023
CCTGCTCAGAAGGAGCTGCTGCCTCCCGTGGAGCCTGCTCAGATGGTGGGTGCCCAAATT c.2040
P A Q K E L L P P V E P A Q M V G A Q I p.680
. . . . . . g.28083
GTACTTGCTCACATGGAGCTGCCTCCTCCCATGGAGACTGCTCAGACGGAGGTTGCCCAA c.2100
V L A H M E L P P P M E T A Q T E V A Q p.700
. . . . . . g.28143
ATGGGGCCTGCTCCCATGGAACCTGCTCAGATGGAGGTTGCCCAGGTAGAATCTGCTCCC c.2160
M G P A P M E P A Q M E V A Q V E S A P p.720
. . . . . . g.28203
ATGCAGGTGGTCCAGAAGGAGCCTGTTCAGATGGAGCTGTCTCCTCCCATGGAGGTGGTC c.2220
M Q V V Q K E P V Q M E L S P P M E V V p.740
. . . . . . g.28263
CAGAAGGAGCCTGTTCAGATAGAGCTGTCTCCTCCCATGGAGGTGGTCCAGAAGGAACCT c.2280
Q K E P V Q I E L S P P M E V V Q K E P p.760
. . . . . . g.28323
GTTAAGATAGAGCTGTCTCCTCCCATAGAGGTGGTCCAGAAGGAGCCTGTTCAGATGGAG c.2340
V K I E L S P P I E V V Q K E P V Q M E p.780
. . . . . . g.28383
TTGTCTCCTCCCATGGGGGTGGTTCAGAAGGAGCCTGCTCAGAGGGAGCCACCTCCTCCC c.2400
L S P P M G V V Q K E P A Q R E P P P P p.800
. . . . . . g.28443
AGAGAGCCTCCCCTTCACATGGAGCCAATTTCCAAAAAGCCTCCTCTCCGAAAAGATAAA c.2460
R E P P L H M E P I S K K P P L R K D K p.820
. . . . . . g.28503
AAGGAAAAGTCTAACATGCAGAGTGAAAGGGCACGGAAGGAGCAAGTCCTTATTGAAGTT c.2520
K E K S N M Q S E R A R K E Q V L I E V p.840
. . . . . . g.28563
GGCTTAGTGCCTGTTAAAGATAGCTGGCTTCTAAAGGAAAGTGTAAGCACAGAGGATCTC c.2580
G L V P V K D S W L L K E S V S T E D L p.860
. . . . . . g.28623
TCACCACCATCACCACCACTGCCAAAGGAAAATTTAAGAGAAGAGGCATCAGGAGACCAA c.2640
S P P S P P L P K E N L R E E A S G D Q p.880
. . . . . . g.28683
AAATTACTCAACACAGGTGAAGGAAATAAAGAAGCCCCTCTTCAGAAAGTAGGAGCAGAA c.2700
K L L N T G E G N K E A P L Q K V G A E p.900
. . . . . . g.28743
GAGGCAGATGAGAGCCTACCTGGTCTTGCTGCTAATATCAACGAATCTACCCATATTTCA c.2760
E A D E S L P G L A A N I N E S T H I S p.920
. . . . . . g.28803
TCCTCTGGACAAAACTTGAATACGCCAGAGGGTGAAACTTTAAATGGTAAACATCAGACT c.2820
S S G Q N L N T P E G E T L N G K H Q T p.940
. . . . . . g.28863
GACAGTATAGTTTGTGAAATGAAAATGGACACTGATCAGAACACAAGAGAGAATCTCACT c.2880
D S I V C E M K M D T D Q N T R E N L T p.960
. . . . . . g.28923
GGTATAAATTCAACAGTTGAAGAACCAGTTTCACCAATGCTTCCCCCTTCAGCAGTAGAA c.2940
G I N S T V E E P V S P M L P P S A V E p.980
. . . . . . g.28983
GAACGTGAAGCAGTGTCCAAAACTGCACTGGCATCACCTCCTGCTACAATGGCAGCAAAT c.3000
E R E A V S K T A L A S P P A T M A A N p.1000
. . . . . . g.29043
GAGTCTCAGGAAATTGATGAAGATGAAGGCATCCACAGCCATGAAGGAAGTGACCTAAGT c.3060
E S Q E I D E D E G I H S H E G S D L S p.1020
. . . . . . g.29103
GACAACATGTCAGAGGGTAGTGATGATTCTGGATTGCATGGGGCTCGGCCAGTTCCACAA c.3120
D N M S E G S D D S G L H G A R P V P Q p.1040
. . . . . . g.29163
GAATCTAGCAGAAAAAATGCAAAGGAAGCCTTGGCAGTCAAAGCGGCTAAGGGAGATTTT c.3180
E S S R K N A K E A L A V K A A K G D F p.1060
. . . . . . g.29223
GTTTGTATCTTCTGTGATCGTTCTTTCAGAAAGGGAAAAGATTACAGCAAACACCTCAAT c.3240
V C I F C D R S F R K G K D Y S K H L N p.1080
. . . . . g.29277
CGCCATTTGGTTAATGTGTACTATCTTGAAGAAGCAGCTCAAGGGCAGGAGTAA c.3294
R H L V N V Y Y L E E A A Q G Q E X p.1097
. . . . . . g.29337
tgaaactttgaacaaggtttcagttcttagtttgtaaggtatattacattttatattcat c.*60
. . . . . . g.29397
ttatgatagcagacaaccttttaagattgctttaattagtatctgatgttgatttttaag c.*120
. . . . . . g.29457
tggcattcttttccttaggactttttatgtatacctgttgattgttgtgtaaattttagt c.*180
. . . . . . g.29517
aaatctaagagagtgtactaaaccagcaggtatctgttagcttatgtgtttaattgaaat c.*240
. . . . . . g.29577
tagaaggctaagatggtataacagcattttattgctttgtccagctacaacttgtcattt c.*300
. . . . . . g.29637
ttttctccatgtcttatcttcctgtttcactttagtttattcttcgttttttattgagat c.*360
. . . . . . g.29697
ctataaaaaattggcttacttaatagcaaattacttgaagaatttgcctgctttatataa c.*420
. . . . . . g.29757
agttagcactttaagatttttttttttagagatgagaagacatttaaattgaagaaaaat c.*480
. . . . . . g.29817
tcccccagcaatagacagtctatcagtccaagtatttacttcctgagttttgatcaatat c.*540
. . . . . . g.29877
tttttatttgtgtatgttaatcgtcataaaaacagtgattttggtgtgttttttattttg c.*600
. . . . . . g.29937
gtgctttaatggcttaagatgttgcacattttttttttcttttggtttctgtttatgttt c.*660
. . . . . . g.29997
ttttgcctatgcagttaaatttttcctagaaatagcatttgtgttgaacagtaacacttt c.*720
. . . . . . g.30057
atacatatatatatgcatgtttattttgtttggcgtctttggagggatgcttttagactt c.*780
. . . . . . g.30117
gtttgcaaaagggcagttttctttttctttgctgcagttgtctattttgcagaataatag c.*840
. . . . . . g.30177
tgtgtgcaagtttgtgagcaaatgaaatatgcaggttcaatctattgattttgattttta c.*900
. . . . . . g.30237
catcttatatctatgccagaatctgtatttcatataacttatttatttcgaatggatgta c.*960
. . . . . . g.30297
gtaaattcacagctatcagttttgattttgcaataaataaaccactaggttgcatgtcga c.*1020
. . . . . . g.30357
acaaatttttatctcaaataccaaccatcagttttttttttcatgtgttttggtacagct c.*1080
. . . . . . g.30417
aattcctaattgtagagtgttaaatgtttgaggagaaccttttctcatagatggttggtg c.*1140
. . . . . . g.30477
ttcatatggctactttacaataaagagaactgtaagtgatatttggaaactacaaacctg c.*1200
. . . . . . g.30537
gaattaggagatataattattccttcaagttttatagaatatcacttgggagattccaaa c.*1260
. . . . . . g.30597
gccatagctattacgcggcaaacctaggataagaaaggtagtatgagtgctggtagacca c.*1320
. . . . . . g.30657
gctgcaactttcctatacagtgaaaaaggctggtgaaacaagtacagtccagatttttta c.*1380
. . . . . . g.30717
aaatcatactttctcagggatctccacaaactggtgggtgtcctggctgtctgtgtgata c.*1440
. . . . . . g.30777
gcctctttctataggtgaggcctcaaatgaattgcagctatcctggtgttcctatgaggg c.*1500
. . . . . . g.30837
cactttgtatgaaaaagggcatgtactccaaaacatttttgtaggttctttggccagttg c.*1560
. . . . . . g.30897
ccaaagagtgtgaaagaatccaatagaggatttttcttactgatagcagtcattcattgc c.*1620
. . . . . . g.30957
agtaaaataaaatatgatcccattagggaatcttgaattctgacctcccatactccgttt c.*1680
. . . . . . g.31017
tgaaataaccactttatatttcattttttaaaaatctgatgatctctttgaggcaggttt c.*1740
. . . . . . g.31077
cagatttggcagtacaacatgaaagattaggaaaagcattaataacgtgtgggtggaaag c.*1800
. . . . . . g.31137
cttgttaaaaatctgagagtgaagtttgagttaaaagttgtttgaacatggcattgactg c.*1860
. . . . . . g.31197
ggaggccaaagatttaaagaagcggaagattcttctcttaagacatgaggagtaagttgt c.*1920
. . . . . . g.31257
gtgataatggtatgtgttttgtgtgcatgaatggacattgtaaatgttgaattctaggct c.*1980
. . . . . . g.31317
ccgacaatcattgtcaacagaagatcaagctgcaaatatttatgttttaaaacttaaatt c.*2040
. . . . . . g.31377
ataaagctagttaagtctttctaatgactagttttaatgttcatgggtacattttaccta c.*2100
. . . . . . g.31437
agttaccgtttacattgtatagaaaaagatacatcttaagcacagattggttattaggaa c.*2160
. . . . . . g.31497
ttagtttggggaagaggtttttttgtggattctttcatactgcaaagaaaaaccatttgc c.*2220
. . . . . . g.31557
cttttggggaattgagctaacttctaatctagtcttaagactagaatgctaaaaacaaaa c.*2280
. . . . . . g.31617
acatgaaggaaattaaaaccccttattattaaattgatttgtaaaaacattgttactgga c.*2340
. . . . . . g.31677
aatttattggacttgaggccttcctccagaaaataaggacttgattgtcaggcctatatt c.*2400
. . . . . . g.31737
aggttctgaaccttaatgccatgtatttgtacttactaaaaattgtttcaatgaaaagta c.*2460
. . . . . . g.31797
cattagcagtatgaacttctggtccagttggaagtttttccatttgaaaaatgtgatgtt c.*2520
. . . . . . g.31857
tgcatggaactgtttgaaacttttttattttctagtccccctcccccacactggatagaa c.*2580
. . . . . . g.31917
tttagcctagaattttccctttggataaaagaacaaaaattgaacatgttatttgtaaat c.*2640
. . . . . . g.31977
tgatgtttagtaattagtgataaacttgaaatactagcatatattataagccttaatctt c.*2700
. . . . . . g.32037
aggtagtcttatgaaaatgaatctcttaactatcttttgaacctgtattcacattggttt c.*2760
. . . . . . g.32097
tcaagatattttaagttatattttttcctcttttcagagctgcttcttattctggggcta c.*2820
. . . . . . g.32157
cttttttttttagttgtgtaattcacaaagggctgcatttttttttttttttaataaggc c.*2880
. . . . . . g.32217
ttataactatggctggatcttttgctctagtcttctaagaagggccattttattttttag c.*2940
. . . . . . g.32277
agtcacttctaaagtcatgtggtaattaactttggagactgttttgcgtatgagtgctga c.*3000
. . . . . . g.32337
tacaaattaaaacccaagtagacctcattgcatgtcaccctatgaatgttgacaatggaa c.*3060
. . . . . . g.32397
ggaataccttgcctgtagtatactgtcacttctggattgataagctgaggaagaaagtta c.*3120
. . . . . . g.32457
agtttcttttttacataagtcagaaaaacttacagctggtgttcctagtttcctggttga c.*3180
. . . . . . g.32517
cctcagcagatgaagtgaacagatagtgttaattcagattgaagaaattatctgaatctt c.*3240
. . . . . . g.32577
ggtttgtgtagatttacaatctacatgcaatattaactaaatcagatagcttttacagtt c.*3300
. . . . . . g.32637
tcacatgtgtacataggttccctcccggtcccttccatatccattagttattgaactttc c.*3360
. . . . . . g.32697
taaactggcattgaaacattacaacaatgttttgttgcaccaattttataaacttaagca c.*3420
. . . . . . g.32757
gtgcaatacgtgttacttttctgaggcaaaccaaaggtaaatttctcaaggttcttgctg c.*3480
. . . . . . g.32817
ccttctttagcagcatttgatggaagatcttttatacatttgtaatagataaaaataaac c.*3540
. . . . . . g.32877
cagattgcaaatccttttttaaaatcctaaaccatgtaccaagtttttggtccaaattat c.*3600
. . . . . . g.32937
gtaggataagttaaacttaaattgcattctattaaccaatatgagtgtatttctgtaagc c.*3660
. . . g.32969
atagttatgttgaaataaagttttaaaaacca c.*3692
(downstream sequence)
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