(used for variant description)
(last modified April 3, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000447.2 in the PSEN2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007381.1, covering PSEN2 transcript NM_000447.2.
(upstream sequence)
g.5007
ggggcct c.-421
. . . . . . g.5067
gggccggcgccgggtccggccgggcgctcagccagctgcgtaaactccgctggagcgcgg c.-361
. . | 02 . . . . g.5739
cggcagagcag | gcatttccagcagtgaggagacagccagaagcaagcttttggagctgaa c.-301
. . . . . . g.5799
ggaacctgagacagaagctagtcccccctctgaattttactgatgaagaaactgaggcca c.-241
. . . . | 03 . . g.9819
cagagctaaagtgacttttcccaaggtcgcccag | cgaggacgtgggacttctcagacgtc c.-181
. . . . . . g.9879
aggagagtgatgtgagggagctgtgtgaccatagaaagtgacgtgttaaaaaccagcgct c.-121
. . . . . . g.9939
gccctctttgaaagccagggagcatcattcatttagcctgctgagaagaagaaaccaagt c.-61
. . . . | 04 . g.16336
gtccgggattcagacctctctgcggccccaagtgttcgtg | gtgcttccagaggcagggct c.-1
. . . . . . g.16396
ATGCTCACATTCATGGCCTCTGACAGCGAGGAAGAAGTGTGTGATGAGCGGACGTCCCTA c.60
M L T F M A S D S E E E V C D E R T S L p.20
. . . . . . g.16456
ATGTCGGCTGAGAGCCCCACGCCGCGCTCCTGCCAGGAGGGCAGGCAGGGCCCAGAGGAT c.120
M S A E S P T P R S C Q E G R Q G P E D p.40
. . | 05 . . . . g.18172
GGAGAGAACACTGCCCAGTGG | AGAAGCCAGGAGAACGAGGAGGACGGTGAGGAGGACCCT c.180
G E N T A Q W | R S Q E N E E D G E E D P p.60
. . . . . . g.18232
GACCGCTATGTCTGTAGTGGGGTTCCCGGGCGGCCGCCAGGCCTGGAGGAAGAGCTGACC c.240
D R Y V C S G V P G R P P G L E E E L T p.80
. . . . . . g.18292
CTCAAATACGGAGCGAAGCACGTGATCATGCTGTTTGTGCCTGTCACTCTGTGCATGATC c.300
L K Y G A K H V I M L F V P V T L C M I p.100
. . . . . | 06 . g.19970
GTGGTGGTAGCCACCATCAAGTCTGTGCGCTTCTACACAGAGAAGAATGGACAGCT | CATC c.360
V V V A T I K S V R F Y T E K N G Q L | I p.120
. . . . . . g.20030
TACACGCCATTCACTGAGGACACACCCTCGGTGGGCCAGCGCCTCCTCAACTCCGTGCTG c.420
Y T P F T E D T P S V G Q R L L N S V L p.140
. . . . . . g.20090
AACACCCTCATCATGATCAGCGTCATCGTGGTTATGACCATCTTCTTGGTGGTGCTCTAC c.480
N T L I M I S V I V V M T I F L V V L Y p.160
. | 07 . . . . g.22561
AAGTACCGCTGCTACAAG | TTCATCCATGGCTGGTTGATCATGTCTTCACTGATGCTGCTG c.540
K Y R C Y K | F I H G W L I M S S L M L L p.180
. . | 08 . . . . g.23291
TTCCTCTTCACCTATATCTACCTTGG | GGAAGTGCTCAAGACCTACAATGTGGCCATGGAC c.600
F L F T Y I Y L G | E V L K T Y N V A M D p.200
. . . . . . g.23351
TACCCCACCCTCTTGCTGACTGTCTGGAACTTCGGGGCAGTGGGCATGGTGTGCATCCAC c.660
Y P T L L L T V W N F G A V G M V C I H p.220
. . . . . . g.23411
TGGAAGGGCCCTCTGGTGCTGCAGCAGGCCTACCTCATCATGATCAGTGCGCTCATGGCC c.720
W K G P L V L Q Q A Y L I M I S A L M A p.240
. . . . . . g.23471
CTAGTGTTCATCAAGTACCTCCCAGAGTGGTCCGCGTGGGTCATCCTGGGCGCCATCTCT c.780
L V F I K Y L P E W S A W V I L G A I S p.260
| 09. . . . . . g.24516
GTGTATG | ATCTCGTGGCTGTGCTGTGTCCCAAAGGGCCTCTGAGAATGCTGGTAGAAACT c.840
V Y D | L V A V L C P K G P L R M L V E T p.280
. . . . | 10 . . g.25720
GCCCAGGAGAGAAATGAGCCCATATTCCCTGCCCTGATATACTCAT | CTGCCATGGTGTGG c.900
A Q E R N E P I F P A L I Y S S | A M V W p.300
. . . . . . g.25780
ACGGTTGGCATGGCGAAGCTGGACCCCTCCTCTCAGGGTGCCCTCCAGCTCCCCTACGAC c.960
T V G M A K L D P S S Q G A L Q L P Y D p.320
. | 11 . . . . . g.26221
CCGGAGATGG | AAGAAGACTCCTATGACAGTTTTGGGGAGCCTTCATACCCCGAAGTCTTT c.1020
P E M E | E D S Y D S F G E P S Y P E V F p.340
. . . . . | 12 . g.28443
GAGCCTCCCTTGACTGGCTACCCAGGGGAGGAGCTGGAGGAAGAGGAGGAAA | GGGGCGTG c.1080
E P P L T G Y P G E E L E E E E E R | G V p.360
. . . . . . g.28503
AAGCTTGGCCTCGGGGACTTCATCTTCTACAGTGTGCTGGTGGGCAAGGCGGCTGCCACG c.1140
K L G L G D F I F Y S V L V G K A A A T p.380
. . . . . | 13 . g.29861
GGCAGCGGGGACTGGAATACCACGCTGGCCTGCTTCGTGGCCATCCTCATT | GGCTTGTGT c.1200
G S G D W N T T L A C F V A I L I | G L C p.400
. . . . . . g.29921
CTGACCCTCCTGCTGCTTGCTGTGTTCAAGAAGGCGCTGCCCGCCCTCCCCATCTCCATC c.1260
L T L L L L A V F K K A L P A L P I S I p.420
. . . . . . g.29981
ACGTTCGGGCTCATCTTTTACTTCTCCACGGACAACCTGGTGCGGCCGTTCATGGACACC c.1320
T F G L I F Y F S T D N L V R P F M D T p.440
. . g.30008
CTGGCCTCCCATCAGCTCTACATCTGA c.1347
L A S H Q L Y I X p.448
. . . . . . g.30068
gggacatggtgtgccacaggctgcaagctgcagggaattttcattggatgcagttgtata c.*60
. . . . . . g.30128
gttttacactctagtgccatatatttttaagacttttctttccttaaaaaataaagtacg c.*120
. . . . . . g.30188
tgtttacttggtgaggaggaggcagaaccagctctttggtgccagctgtttcatcaccag c.*180
. . . . . . g.30248
actttggctcccgctttggggagcgcctcgcttcacggacaggaagcacagcaggtttat c.*240
. . . . . . g.30308
ccagatgaactgagaaggtcagattagggcggggagaagagcatccggcatgagggctga c.*300
. . . . . . g.30368
gatgcgcaaagagtgtgctcgggagtggcccctggcacctgggtgctctggctggagagg c.*360
. . . . . . g.30428
aaaagccagttccctacgaggagtgttcccaatgctttgtccatgatgtccttgttattt c.*420
. . . . . . g.30488
tattgcctttagaaactgagtcctgttcttgttacggcagtcacactgctgggaagtggc c.*480
. . . . g.30532
ttaatagtaatatcaataaatagatgagtcctgttagaatcttg c.*524
(downstream sequence)
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