(used for variant description)
(last modified October 23, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000484.3 in the APP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007376.1, covering APP transcript NM_000484.3.
(upstream sequence)
. . g.5014
ggatcagctgactcgcctgg c.-181
. . . . . . g.5074
ctctgagccccgccgccgcgctcgggctccgtcagtttcctcggcagcggtaggcgagag c.-121
. . . . . . g.5134
cacgcggaggagcgtgcgcgggggccccgggagacggcggcggtggcggcgcgggcagag c.-61
. . . . . . g.5194
caaggacgcggcggatcccactcgcacagcagcgcactcggtgccccgcgcagggtcgcg c.-1
. . . . . | 02. g.63672
ATGCTGCCCGGTTTGGCACTGCTCCTGCTGGCCGCCTGGACGGCTCGGGCGCTGGAG | GTA c.60
M L P G L A L L L L A A W T A R A L E | V p.20
. . . . . . g.63732
CCCACTGATGGTAATGCTGGCCTGCTGGCTGAACCCCAGATTGCCATGTTCTGTGGCAGA c.120
P T D G N A G L L A E P Q I A M F C G R p.40
. . . . . . g.63792
CTGAACATGCACATGAATGTCCAGAATGGGAAGTGGGATTCAGATCCATCAGGGACCAAA c.180
L N M H M N V Q N G K W D S D P S G T K p.60
. . . . | 03 . . g.85759
ACCTGCATTGATACCAAGGAAGGCATCCTGCAGTATTGCCAAGAA | GTCTACCCTGAACTG c.240
T C I D T K E G I L Q Y C Q E | V Y P E L p.80
. . . . . . g.85819
CAGATCACCAATGTGGTAGAAGCCAACCAACCAGTGACCATCCAGAACTGGTGCAAGCGG c.300
Q I T N V V E A N Q P V T I Q N W C K R p.100
. . . . . | 04 . g.122473
GGCCGCAAGCAGTGCAAGACCCATCCCCACTTTGTGATTCCCTACCGCTGCTTAG | TTGGT c.360
G R K Q C K T H P H F V I P Y R C L V | G p.120
. . . . . . g.122533
GAGTTTGTAAGTGATGCCCTTCTCGTTCCTGACAAGTGCAAATTCTTACACCAGGAGAGG c.420
E F V S D A L L V P D K C K F L H Q E R p.140
. . . . | 05 . g.124635
ATGGATGTTTGCGAAACTCATCTTCACTGGCACACCGTCGCCAAAGAG | ACATGCAGTGAG c.480
M D V C E T H L H W H T V A K E | T C S E p.160
. . . . . . g.124695
AAGAGTACCAACTTGCATGACTACGGCATGTTGCTGCCCTGCGGAATTGACAAGTTCCGA c.540
K S T N L H D Y G M L L P C G I D K F R p.180
. . . . . . g.124755
GGGGTAGAGTTTGTGTGTTGCCCACTGGCTGAAGAAAGTGACAATGTGGATTCTGCTGAT c.600
G V E F V C C P L A E E S D N V D S A D p.200
. . . . . . g.124815
GCGGAGGAGGATGACTCGGATGTCTGGTGGGGCGGAGCAGACACAGACTATGCAGATGGG c.660
A E E D D S D V W W G G A D T D Y A D G p.220
| 06 . . . . . . g.153832
AG | TGAAGACAAAGTAGTAGAAGTAGCAGAGGAGGAAGAAGTGGCTGAGGTGGAAGAAGAA c.720
S | E D K V V E V A E E E E V A E V E E E p.240
. . . . . . g.153892
GAAGCCGATGATGACGAGGACGATGAGGATGGTGATGAGGTAGAGGAAGAGGCTGAGGAA c.780
E A D D D E D D E D G D E V E E E A E E p.260
. . . . . . g.153952
CCCTACGAAGAAGCCACAGAGAGAACCACCAGCATTGCCACCACCACCACCACCACCACA c.840
P Y E E A T E R T T S I A T T T T T T T p.280
. . | 07 . . . . g.175670
GAGTCTGTGGAAGAGGTGGTTCGAG | AGGTGTGCTCTGAACAAGCCGAGACGGGGCCGTGC c.900
E S V E E V V R E | V C S E Q A E T G P C p.300
. . . . . . g.175730
CGAGCAATGATCTCCCGCTGGTACTTTGATGTGACTGAAGGGAAGTGTGCCCCATTCTTT c.960
R A M I S R W Y F D V T E G K C A P F F p.320
. . . . . . g.175790
TACGGCGGATGTGGCGGCAACCGGAACAACTTTGACACAGAAGAGTACTGCATGGCCGTG c.1020
Y G G C G G N R N N F D T E E Y C M A V p.340
. | 08 . . . . . g.178448
TGTGGCAGCGCCA | TGTCCCAAAGTTTACTCAAGACTACCCAGGAACCTCTTGCCCGAGAT c.1080
C G S A M | S Q S L L K T T Q E P L A R D p.360
. | 09 . . . . . g.193392
CCTGTTAAAC | TTCCTACAACAGCAGCCAGTACCCCTGATGCCGTTGACAAGTATCTCGAG c.1140
P V K L | P T T A A S T P D A V D K Y L E p.380
. . . . . . g.193452
ACACCTGGGGATGAGAATGAACATGCCCATTTCCAGAAAGCCAAAGAGAGGCTTGAGGCC c.1200
T P G D E N E H A H F Q K A K E R L E A p.400
. . | 10 . . . . g.199827
AAGCACCGAGAGAGAATGTCCCAG | GTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCA c.1260
K H R E R M S Q | V M R E W E E A E R Q A p.420
. . . | 11 . . g.200612
AAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAG | CATTTCCAGGAGAAAGTGGAA c.1320
K N L P K A D K K A V I Q | H F Q E K V E p.440
. . . . . . g.200672
TCTTTGGAACAGGAAGCAGCCAACGAGAGACAGCAGCTGGTGGAGACACACATGGCCAGA c.1380
S L E Q E A A N E R Q Q L V E T H M A R p.460
. . . . . . g.200732
GTGGAAGCCATGCTCAATGACCGCCGCCGCCTGGCCCTGGAGAACTACATCACCGCTCTG c.1440
V E A M L N D R R R L A L E N Y I T A L p.480
. | 12 . . . . g.220105
CAGGCTGTTCCTCCTCGG | CCTCGTCACGTGTTCAATATGCTAAAGAAGTATGTCCGCGCA c.1500
Q A V P P R | P R H V F N M L K K Y V R A p.500
. . . . . . g.220165
GAACAGAAGGACAGACAGCACACCCTAAAGCATTTCGAGCATGTGCGCATGGTGGATCCC c.1560
E Q K D R Q H T L K H F E H V R M V D P p.520
. . | 13. . . . g.221162
AAGAAAGCCGCTCAGATCCGGTCCCAG | GTTATGACACACCTCCGTGTGATTTATGAGCGC c.1620
K K A A Q I R S Q | V M T H L R V I Y E R p.540
. . . . . . g.221222
ATGAATCAGTCTCTCTCCCTGCTCTACAACGTGCCTGCAGTGGCCGAGGAGATTCAGGAT c.1680
M N Q S L S L L Y N V P A V A E E I Q D p.560
| 14. . . . . . g.263911
GAAGTTG | ATGAGCTGCTTCAGAAAGAGCAAAACTATTCAGATGACGTCTTGGCCAACATG c.1740
E V D | E L L Q K E Q N Y S D D V L A N M p.580
. . . . . . g.263971
ATTAGTGAACCAAGGATCAGTTACGGAAACGATGCTCTCATGCCATCTTTGACCGAAACG c.1800
I S E P R I S Y G N D A L M P S L T E T p.600
. . . . . . g.264031
AAAACCACCGTGGAGCTCCTTCCCGTGAATGGAGAGTTCAGCCTGGACGATCTCCAGCCG c.1860
K T T V E L L P V N G E F S L D D L Q P p.620
. . . . | 15 . g.270754
TGGCATTCTTTTGGGGCTGACTCTGTGCCAGCCAACACAGAAAACGAAG | TTGAGCCTGTT c.1920
W H S F G A D S V P A N T E N E V | E P V p.640
. . . . | 16 . . g.278164
GATGCCCGCCCTGCTGCCGACCGAGGACTGACCACTCGACCAG | GTTCTGGGTTGACAAAT c.1980
D A R P A A D R G L T T R P G | S G L T N p.660
. . . . . . g.278224
ATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGATGCAGAATTCCGACATGACTCAGGA c.2040
I K T E E I S E V K M D A E F R H D S G p.680
. . | 17 . . . . g.283988
TATGAAGTTCATCATCAAAAATTG | GTGTTCTTTGCAGAAGATGTGGGTTCAAACAAAGGT c.2100
Y E V H H Q K L | V F F A E D V G S N K G p.700
. . . . . . g.284048
GCAATCATTGGACTCATGGTGGGCGGTGTTGTCATAGCGACAGTGATCGTCATCACCTTG c.2160
A I I G L M V G G V V I A T V I V I T L p.720
. . . . . | 18 . g.294059
GTGATGCTGAAGAAGAAACAGTACACATCCATTCATCATGGTGTGGTGGAG | GTTGACGCC c.2220
V M L K K K Q Y T S I H H G V V E | V D A p.740
. . . . . . g.294119
GCTGTCACCCCAGAGGAGCGCCACCTGTCCAAGATGCAGCAGAACGGCTACGAAAATCCA c.2280
A V T P E E R H L S K M Q Q N G Y E N P p.760
. . . g.294152
ACCTACAAGTTCTTTGAGCAGATGCAGAACTAG c.2313
T Y K F F E Q M Q N X p.770
. . . . . . g.294212
acccccgccacagcagcctctgaagttggacagcaaaaccattgcttcactacccatcgg c.*60
. . . . . . g.294272
tgtccatttatagaataatgtgggaagaaacaaacccgttttatgatttactcattatcg c.*120
. . . . . . g.294332
ccttttgacagctgtgctgtaacacaagtagatgcctgaacttgaattaatccacacatc c.*180
. . . . . . g.294392
agtaatgtattctatctctctttacattttggtctctatactacattattaatgggtttt c.*240
. . . . . . g.294452
gtgtactgtaaagaatttagctgtatcaaactagtgcatgaatagattctctcctgatta c.*300
. . . . . . g.294512
tttatcacatagccccttagccagttgtatattattcttgtggtttgtgacccaattaag c.*360
. . . . . . g.294572
tcctactttacatatgctttaagaatcgatgggggatgcttcatgtgaacgtgggagttc c.*420
. . . . . . g.294632
agctgcttctcttgcctaagtattcctttcctgatcactatgcattttaaagttaaacat c.*480
. . . . . . g.294692
ttttaagtatttcagatgctttagagagattttttttccatgactgcattttactgtaca c.*540
. . . . . . g.294752
gattgctgcttctgctatatttgtgatataggaattaagaggatacacacgtttgtttct c.*600
. . . . . . g.294812
tcgtgcctgttttatgtgcacacattaggcattgagacttcaagcttttctttttttgtc c.*660
. . . . . . g.294872
cacgtatctttgggtctttgataaagaaaagaatccctgttcattgtaagcacttttacg c.*720
. . . . . . g.294932
gggcgggtggggaggggtgctctgctggtcttcaattaccaagaattctccaaaacaatt c.*780
. . . . . . g.294992
ttctgcaggatgattgtacagaatcattgcttatgacatgatcgctttctacactgtatt c.*840
. . . . . . g.295052
acataaataaattaaataaaataaccccgggcaagacttttctttgaaggatgactacag c.*900
. . . . . . g.295112
acattaaataatcgaagtaattttgggtggggagaagaggcagattcaattttctttaac c.*960
. . . . . . g.295172
cagtctgaagtttcatttatgatacaaaagaagatgaaaatggaagtggcaatataaggg c.*1020
. . . . . . g.295232
gatgaggaaggcatgcctggacaaacccttcttttaagatgtgtcttcaatttgtataaa c.*1080
. . . . g.295272
atggtgttttcatgtaaataaatacattcttggaggagca c.*1120
(downstream sequence)
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