(used for variant description)
(last modified April 3, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000021.3 in the PSEN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007386.2, covering PSEN1 transcript NM_000021.3.
(upstream sequence)
. . . . g.5008
aaatgacgacaacggtgagggttctcgggcggggcctgggacag c.-241
. . . . . . g.5068
gcagctccggggtccgcggtttcacatcggaaacaaaacagcggctggtctggaaggaac c.-181
. . . . . | 02 . g.16339
ctgagctacgagccgcggcggcagcggggcggcggggaagcgtat | acctaatctgggagc c.-121
. . . . . . g.16399
ctgcaagtgacaacagcctttgcggtccttagacagcttggcctggaggagaacacatga c.-61
. | 03 . . . . . g.16549
aagaaag | aacctcaagaggctttgttttctgtgaaacagtatttctatacagttgctcca c.-1
. . . . . . g.16609
ATGACAGAGTTACCTGCACCGTTGTCCTACTTCCAGAATGCACAGATGTCTGAGGACAAC c.60
M T E L P A P L S Y F Q N A Q M S E D N p.20
. . | 04. . . . g.39359
CACCTGAGCAATACTGTACGTAGCCAG | AATGACAATAGAGAACGGCAGGAGCACAACGAC c.120
H L S N T V R S Q | N D N R E R Q E H N D p.40
. . . . . . g.39419
AGACGGAGCCTTGGCCACCCTGAGCCATTATCTAATGGACGACCCCAGGGTAACTCCCGG c.180
R R S L G H P E P L S N G R P Q G N S R p.60
. . . . . . g.39479
CAGGTGGTGGAGCAAGATGAGGAAGAAGATGAGGAGCTGACATTGAAATATGGCGCCAAG c.240
Q V V E Q D E E E D E E L T L K Y G A K p.80
. . . . . . g.39539
CATGTGATCATGCTCTTTGTCCCTGTGACTCTCTGCATGGTGGTGGTCGTGGCTACCATT c.300
H V I M L F V P V T L C M V V V V A T I p.100
. . . | 05 . . g.42117
AAGTCAGTCAGCTTTTATACCCGGAAGGATGGGCAGCT | AATCTATACCCCATTCACAGAA c.360
K S V S F Y T R K D G Q L | I Y T P F T E p.120
. . . . . . g.42177
GATACCGAGACTGTGGGCCAGAGAGCCCTGCACTCAATTCTGAATGCTGCCATCATGATC c.420
D T E T V G Q R A L H S I L N A A I M I p.140
. . . . . . g.42237
AGTGTCATTGTTGTCATGACTATCCTCCTGGTGGTTCTGTATAAATACAGGTGCTATAAG c.480
S V I V V M T I L L V V L Y K Y R C Y K p.160
| 06 . . . . . . g.55442
| GTCATCCATGCCTGGCTTATTATATCATCTCTATTGTTGCTGTTCTTTTTTTCATTCATT c.540
| V I H A W L I I S S L L L L F F F S F I p.180
| 07 . . . . . g.61225
TACTTGGG | GGAAGTGTTTAAAACCTATAACGTTGCTGTGGACTACATTACTGTTGCACTC c.600
Y L G | E V F K T Y N V A V D Y I T V A L p.200
. . . . . . g.61285
CTGATCTGGAATTTTGGTGTGGTGGGAATGATTTCCATTCACTGGAAAGGTCCACTTCGA c.660
L I W N F G V V G M I S I H W K G P L R p.220
. . . . . . g.61345
CTCCAGCAGGCATATCTCATTATGATTAGTGCCCTCATGGCCCTGGTGTTTATCAAGTAC c.720
L Q Q A Y L I M I S A L M A L V F I K Y p.240
. . . . | 08 . g.66571
CTCCCTGAATGGACTGCGTGGCTCATCTTGGCTGTGATTTCAGTATATG | ATTTAGTGGCT c.780
L P E W T A W L I L A V I S V Y D | L V A p.260
. . . . . . g.66631
GTTTTGTGTCCGAAAGGTCCACTTCGTATGCTGGTTGAAACAGCTCAGGAGAGAAATGAA c.840
V L C P K G P L R M L V E T A Q E R N E p.280
. . | 09 . . . g.74947
ACGCTTTTTCCAGCTCTCATTTACTCCT | CAACAATGGTGTGGTTGGTGAATATGGCAGAA c.900
T L F P A L I Y S S | T M V W L V N M A E p.300
. . . . . | 10 . g.80303
GGAGACCCGGAAGCTCAAAGGAGAGTATCCAAAAATTCCAAGTATAATGCAGAAA | GCACA c.960
G D P E A Q R R V S K N S K Y N A E S | T p.320
. . . . . . g.80363
GAAAGGGAGTCACAAGACACTGTTGCAGAGAATGATGATGGCGGGTTCAGTGAGGAATGG c.1020
E R E S Q D T V A E N D D G G F S E E W p.340
. . . . . . g.80423
GAAGCCCAGAGGGACAGTCATCTAGGGCCTCATCGCTCTACACCTGAGTCACGAGCTGCT c.1080
E A Q R D S H L G P H R S T P E S R A A p.360
. . . . | 11 . g.85666
GTCCAGGAACTTTCCAGCAGTATCCTCGCTGGTGAAGACCCAGAGGAAA | GGGGAGTAAAA c.1140
V Q E L S S S I L A G E D P E E R | G V K p.380
. . . . . . g.85726
CTTGGATTGGGAGATTTCATTTTCTACAGTGTTCTGGTTGGTAAAGCCTCAGCAACAGCC c.1200
L G L G D F I F Y S V L V G K A S A T A p.400
. . . . | 12 . g.87675
AGTGGAGACTGGAACACAACCATAGCCTGTTTCGTAGCCATATTAATT | GGTTTGTGCCTT c.1260
S G D W N T T I A C F V A I L I | G L C L p.420
. . . . . . g.87735
ACATTATTACTCCTTGCCATTTTCAAGAAAGCATTGCCAGCTCTTCCAATCTCCATCACC c.1320
T L L L L A I F K K A L P A L P I S I T p.440
. . . . . . g.87795
TTTGGGCTTGTTTTCTACTTTGCCACAGATTATCTTGTACAGCCTTTTATGGACCAATTA c.1380
F G L V F Y F A T D Y L V Q P F M D Q L p.460
. . g.87819
GCATTCCATCAATTTTATATCTAG c.1404
A F H Q F Y I X p.467
. . . . . . g.87879
catatttgcggttagaatcccatggatgtttcttctttgactataacaaaatctggggag c.*60
. . . . . . g.87939
gacaaaggtgattttcctgtgtccacatctaacaaagtcaagattcccggctggactttt c.*120
. . . . . . g.87999
gcagcttccttccaagtcttcctgaccaccttgcactattggactttggaaggaggtgcc c.*180
. . . . . . g.88059
tatagaaaacgattttgaacatacttcatcgcagtggactgtgtccctcggtgcagaaac c.*240
. . . . . . g.88119
taccagatttgagggacgaggtcaaggagatatgataggcccggaagttgctgtgcccca c.*300
. . . . . . g.88179
tcagcagcttgacgcgtggtcacaggacgatttcactgacactgcgaactctcaggacta c.*360
. . . . . . g.88239
ccgttaccaagaggttaggtgaagtggtttaaaccaaacggaactcttcatcttaaacta c.*420
. . . . . . g.88299
cacgttgaaaatcaacccaataattctgtattaactgaattctgaacttttcaggaggta c.*480
. . . . . . g.88359
ctgtgaggaagagcaggcaccagcagcagaatggggaatggagaggtgggcaggggttcc c.*540
. . . . . . g.88419
agcttccctttgattttttgctgcagactcatcctttttaaatgagacttgttttcccct c.*600
. . . . . . g.88479
ctctttgagtcaagtcaaatatgtagattgcctttggcaattcttcttctcaagcactga c.*660
. . . . . . g.88539
cactcattaccgtctgtgattgccatttcttcccaaggccagtctgaacctgaggttgct c.*720
. . . . . . g.88599
ttatcctaaaagttttaacctcaggttccaaattcagtaaattttggaaacagtacagct c.*780
. . . . . . g.88659
atttctcatcaattctctatcatgttgaagtcaaatttggattttccaccaaattctgaa c.*840
. . . . . . g.88719
tttgtagacatacttgtacgctcacttgccccagatgcctcctctgtcctcattcttctc c.*900
. . . . . . g.88779
tcccacacaagcagtctttttctacagccagtaaggcagctctgtcgtggtagcagatgg c.*960
. . . . . . g.88839
tcccattattctagggtcttactctttgtatgatgaaaagaatgtgttatgaatcggtgc c.*1020
. . . . . . g.88899
tgtcagccctgctgtcagaccttcttccacagcaaatgagatgtatgcccaaagacggta c.*1080
. . . . . . g.88959
gaattaaagaagagtaaaatggctgttgaagcactttctgtcctggtattttgtttttgc c.*1140
. . . . . . g.89019
ttttgccacacagtagctcagaatttgaacaaatagccaaaagctggtggttgatgaatt c.*1200
. . . . . . g.89079
atgaactagttgtatcaacacaaagcaagagttggggaaagccatatttaacttggtgag c.*1260
. . . . . . g.89139
ctgtgggagaacctggtggcagaaggagaaccaactgccaaggggaaagagaaggggcct c.*1320
. . . . . . g.89199
ccagcagcgaaggggatacagtgagctaatgatgtcaaggaggagtttcaggttattctc c.*1380
. . . . . . g.89259
gtcagctccacaaatgggtgctttgtggtctctgcccgcgttacctttcctctcaatgta c.*1440
. . . . . . g.89319
cctttgtgtgaactgggcagtggaggtgcctgctgcagttaccatggagttcaggctctg c.*1500
. . . . . . g.89379
ggcagctcagtcaggcaaaacacacaaacagccatcagcctgtgtgggctcagggcacct c.*1560
. . . . . . g.89439
ctggacaaaggcttgtggggcataaccttctttaccacagagagcccttagctatgctga c.*1620
. . . . . . g.89499
tcagaccgtaagcgtttatgagaaacttagtttcctcctgtggctgaggaggggccagct c.*1680
. . . . . . g.89559
ttttcttcttttgcctgctgttttctctcccaatctatgatatgatatgacctggtttgg c.*1740
. . . . . . g.89619
ggctgtctttggtgtttagaatatttgttttctgtcccaggatatttcttataagaacct c.*1800
. . . . . . g.89679
aacttcaagagtagtgtgcgagtactgatctgaatttaaattaaaattggcttatattag c.*1860
. . . . . . g.89739
gcagtcacagacaggaaaaataagagctatgcaaagaaagggggatttaaagtagtaggt c.*1920
. . . . . . g.89799
tctatcatctcaattcatttttttccatgaaatcccttcttccaagattcattccctctc c.*1980
. . . . . . g.89859
tcagacatgtgctagcatgggtattatcattgagaaagcacagctacagcaaagccacct c.*2040
. . . . . . g.89919
gaatagcaatttgtgattggaagcattcttgagggatccctaatctagagtaatttattt c.*2100
. . . . . . g.89979
gtgtaaggatcccaaatgtgttgcacctttcatgatacatttcttctctgaagagggtac c.*2160
. . . . . . g.90039
gtggggtgtgtgtatttaaatccatcctatgtattactgattgtcctgtgtagaaagatg c.*2220
. . . . . . g.90099
gcaattattctgtctctttctccaagtttgagccacatctcagccacattgttagacagt c.*2280
. . . . . . g.90159
gtacagagaacctatctttcctttttttttttttaaaggacaggattttgctgtgttgcc c.*2340
. . . . . . g.90219
caggctagacttgaactcctgggctcaagtaatccacctcagcctgagtagctgagacta c.*2400
. . . . . . g.90279
cagcccatcttatttctttaaatcattcatctcaggcagagaacttttccctcaaacatt c.*2460
. . . . . . g.90339
ctttttagaattagttcagtcattcctaaaacatccaaatgctagtcttccaccatgaaa c.*2520
. . . . . . g.90399
aatagattgtcactggaaagaacagtagcaatttccataaggatgtgccttcactcacac c.*2580
. . . . . . g.90459
gggacaggcggtggttatagagtcgggcaaaaccagcagtagagtatgaccagccaagcc c.*2640
. . . . . . g.90519
aatctgcttaataaaaagatggaagacagtaaggaaggaaagtagccactaagagtctga c.*2700
. . . . . . g.90579
gtctgactgggctacagaataaagggtatttatggacagaatgtcattacatgcctatgg c.*2760
. . . . . . g.90639
gaataccaatcatatttggaagatttgcagattttttttcagagaggaaagactcacctt c.*2820
. . . . . . g.90699
cctgtttttggttctcagtaggttcgtgtgtgttcctagaatcacagctctgactccaaa c.*2880
. . . . . . g.90759
tgactcaatttctcaattagaaaaagtagaagctttctaagcaacttggaagaaaacagt c.*2940
. . . . . . g.90819
cataagtaagcaatttgttgattttactacagaagcaacaactgaagaggcagtgttttt c.*3000
. . . . . . g.90879
actttcagactccgggattcccattctgtagtctctctgcttttaaaaaccctccttttg c.*3060
. . . . . . g.90939
caatagatgcccaaacagatgatgtttattacttgttatttacgtggcctcagacagtgt c.*3120
. . . . . . g.90999
atgtattctcgatataacttgtagagtgtgaaatataagtttaactaccaaataaggtct c.*3180
. . . . . . g.91059
cccagggttagatgactgcgggaagcctttgatcccaacccccaaggctttgtatatttg c.*3240
. . . . . . g.91119
atcatttgtgatctaaccctggaagaaaaagagctcagaaaccactatgaaaaaatttgt c.*3300
. . . . . . g.91179
tcagtgttttctgtgttcccgtaggttctggagtctgaggatgcaaagatgaataagata c.*3360
. . . . . . g.91239
aattctcagaatgtagttataatctcttgttttctggtatatgccatctttctttaactt c.*3420
. . . . . . g.91299
ctctaaaatattgggtatttgtcaaataaccacttttaacagttaccattactgagggct c.*3480
. . . . . . g.91359
tatacattggtgttataaaagtgacttgattcagaaatcaatccattcagtaaagtactc c.*3540
. . . . . . g.91419
cttctctaaatttgctgttatgtctataaggaacagtttgacctgcccttctcctcacct c.*3600
. . . . . . g.91479
cctcacctgccttccaacattgaatttggaaggagacgtgaaaattggacatttggtttt c.*3660
. . . . . . g.91539
gcccttgggctggaaactatcatataatcataagtttgagcctagaagtgatccttgtga c.*3720
. . . . . . g.91599
tcttctcacctctttaaattcccacaacacaagagattaaaaacagaggtttcagctctt c.*3780
. . . . . . g.91659
catagtgcgttgtgaaatggctggccagagtgtaccaacaaagctgtcatcgggctcaca c.*3840
. . . . . . g.91719
gctcagagacatctgcatgtgatcatctgcatagtcctctcctctaacgggaaacacctc c.*3900
. . . . . . g.91779
agatttgcatataaaaaagcaccctggtgctgaaatgaacccctttcttgaacatcaaag c.*3960
. . . . . . g.91839
ctgtctcccacagccttgggcagcagggtgcctcttagtggatgtgctgggtccaccctg c.*4020
. . . . . . g.91899
agccctgacatgtggtggcagcattgccagttggtctgtgtgtctgtgtagcagggacga c.*4080
. . . . . . g.91959
tttcccagaaagcaattttccttttgaaatacgtaattgttgagactaggcagtttcaaa c.*4140
. . . . . . g.92019
gtcagctgcatatagtagcaagtacaggactgtcttgtttttggtgtccttggaggtgct c.*4200
. . . . . . g.92079
ggggtgagggtttcagtgggatcatttactctcacatgttgtctgccttctgcttctgtg c.*4260
. . . . . . g.92139
gacactgctttgtacttaattcagacagactgtgaatacaccttttttataaataccttt c.*4320
. . . . . . g.92199
caaattcttggtaagatataattttgatagctgattgcagattttctgtatttgtcagat c.*4380
. . g.92221
taataaagactgcatgaatcca c.*4402
(downstream sequence)
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