(used for variant description)
(last modified November 8, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_016835.4 in the MAPT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007398.1, covering MAPT transcript NM_016835.4.
(upstream sequence)
. . g.5022
ggacggccgagcggcagggcgc c.-301
. . . . . . g.5082
tcgcgcgcgcccactagtggccggaggagaaggctcccgcggaggccgcgctgcccgccc c.-241
. . . . . . g.5142
cctcccctggggaggctcgcgttcccgctgctcgcgcctgcgccgcccgccggcctcagg c.-181
. . . . . . g.5202
aacgcgccctcttcgccggcgcgcgccctcgcagtcaccgccacccaccagctccggcac c.-121
. . . . . . g.5262
caacagcagcgccgctgccaccgcccaccttctgccgccgccaccacagccaccttctcc c.-61
. . . . . | 02 . g.72956
tcctccgctgtcctctcccgtcctcgcctctgtcgactatcag | gtgaactttgaaccagg c.-1
. . . . . . g.73016
ATGGCTGAGCCCCGCCAGGAGTTCGAAGTGATGGAAGATCACGCTGGGACGTACGGGTTG c.60
M A E P R Q E F E V M E D H A G T Y G L p.20
. . . . . . g.73076
GGGGACAGGAAAGATCAGGGGGGCTACACCATGCACCAAGACCAAGAGGGTGACACGGAC c.120
G D R K D Q G G Y T M H Q D Q E G D T D p.40
. | 03 . . . . . g.82524
GCTGGCCTGAAAG | AATCTCCCCTGCAGACCCCCACTGAGGACGGATCTGAGGAACCGGGC c.180
A G L K E | S P L Q T P T E D G S E E P G p.60
. . . . | 04 . . g.85023
TCTGAAACCTCTGATGCTAAGAGCACTCCAACAGCGGAAG | ATGTGACAGCACCCTTAGTG c.240
S E T S D A K S T P T A E D | V T A P L V p.80
. . . . . . g.85083
GATGAGGGAGCTCCCGGCAAGCAGGCTGCCGCGCAGCCCCACACGGAGATCCCAGAAGGA c.300
D E G A P G K Q A A A Q P H T E I P E G p.100
| 05. . . . . . g.89046
ACCACAG | CTGAAGAAGCAGGCATTGGAGACACCCCCAGCCTGGAAGACGAAGCTGCTGGT c.360
T T A | E E A G I G D T P S L E D E A A G p.120
. | 06 . . . . . g.93843
CACGTGACCCAAG | AGCCTGAAAGTGGTAAGGTGGTCCAGGAAGGCTTCCTCCGAGAGCCA c.420
H V T Q E | P E S G K V V Q E G F L R E P p.140
. . . . . . g.93903
GGCCCCCCAGGTCTGAGCCACCAGCTCATGTCCGGCATGCCTGGGGCTCCCCTCCTGCCT c.480
G P P G L S H Q L M S G M P G A P L L P p.160
. . . . . . g.93963
GAGGGCCCCAGAGAGGCCACACGCCAACCTTCGGGGACAGGACCTGAGGACACAGAGGGC c.540
E G P R E A T R Q P S G T G P E D T E G p.180
. . . . . . g.94023
GGCCGCCACGCCCCTGAGCTGCTCAAGCACCAGCTTCTAGGAGACCTGCACCAGGAGGGG c.600
G R H A P E L L K H Q L L G D L H Q E G p.200
. . . . . . g.94083
CCGCCGCTGAAGGGGGCAGGGGGCAAAGAGAGGCCGGGGAGCAAGGAGGAGGTGGATGAA c.660
P P L K G A G G K E R P G S K E E V D E p.220
. . . . . . g.94143
GACCGCGACGTCGATGAGTCCTCCCCCCAAGACTCCCCTCCCTCCAAGGCCTCCCCAGCC c.720
D R D V D E S S P Q D S P P S K A S P A p.240
. . . . . . g.94203
CAAGATGGGCGGCCTCCCCAGACAGCCGCCAGAGAAGCCACCAGCATCCCAGGCTTCCCA c.780
Q D G R P P Q T A A R E A T S I P G F P p.260
. . . . . . g.94263
GCGGAGGGTGCCATCCCCCTCCCTGTGGATTTCCTCTCCAAAGTTTCCACAGAGATCCCA c.840
A E G A I P L P V D F L S K V S T E I P p.280
. . . . . . g.94323
GCCTCAGAGCCCGACGGGCCCAGTGTAGGGCGGGCCAAAGGGCAGGATGCCCCCCTGGAG c.900
A S E P D G P S V G R A K G Q D A P L E p.300
. . . . . . g.94383
TTCACGTTTCACGTGGAAATCACACCCAACGTGCAGAAGGAGCAGGCGCACTCGGAGGAG c.960
F T F H V E I T P N V Q K E Q A H S E E p.320
. . . . . . g.94443
CATTTGGGAAGGGCTGCATTTCCAGGGGCCCCTGGAGAGGGGCCAGAGGCCCGGGGCCCC c.1020
H L G R A A F P G A P G E G P E A R G P p.340
. . . . . . g.94503
TCTTTGGGAGAGGACACAAAAGAGGCTGACCTTCCAGAGCCCTCTGAAAAGCAGCCTGCT c.1080
S L G E D T K E A D L P E P S E K Q P A p.360
. . . . | 07 . . g.97672
GCTGCTCCGCGGGGGAAGCCCGTCAGCCGGGTCCCTCAACTCAAAG | CTCGCATGGTCAGT c.1140
A A P R G K P V S R V P Q L K A | R M V S p.380
. . . . | 08 . . g.100514
AAAAGCAAAGACGGGACTGGAAGCGATGACAAAAAAGCCAAG | ACATCCACACGTTCCTCT c.1200
K S K D G T G S D D K K A K | T S T R S S p.400
. . . . . . g.100574
GCTAAAACCTTGAAAAATAGGCCTTGCCTTAGCCCCAAACACCCCACTCCTGGTAGCTCA c.1260
A K T L K N R P C L S P K H P T P G S S p.420
. . . . . . g.100634
GACCCTCTGATCCAACCCTCCAGCCCTGCTGTGTGCCCAGAGCCACCTTCCTCTCCTAAA c.1320
D P L I Q P S S P A V C P E P P S S P K p.440
. . . . . . g.100694
TACGTCTCTTCTGTCACTTCCCGAACTGGCAGTTCTGGAGCAAAGGAGATGAAACTCAAG c.1380
Y V S S V T S R T G S S G A K E M K L K p.460
| 09 . . . . . . g.102138
| GGGGCTGATGGTAAAACGAAGATCGCCACACCGCGGGGAGCAGCCCCTCCAGGCCAGAAG c.1440
| G A D G K T K I A T P R G A A P P G Q K p.480
. . . . . . g.102198
GGCCAGGCCAACGCCACCAGGATTCCAGCAAAAACCCCGCCCGCTCCAAAGACACCACCC c.1500
G Q A N A T R I P A K T P P A P K T P P p.500
| 10. . . . . . g.107070
AGCTCTG | GTGAACCTCCAAAATCAGGGGATCGCAGCGGCTACAGCAGCCCCGGCTCCCCA c.1560
S S G | E P P K S G D R S G Y S S P G S P p.520
. . . . . . g.107130
GGCACTCCCGGCAGCCGCTCCCGCACCCCGTCCCTTCCAACCCCACCCACCCGGGAGCCC c.1620
G T P G S R S R T P S L P T P P T R E P p.540
. . . . . . g.107190
AAGAAGGTGGCAGTGGTCCGTACTCCACCCAAGTCGCCGTCTTCCGCCAAGAGCCGCCTG c.1680
K K V A V V R T P P K S P S S A K S R L p.560
. . . . . . g.107250
CAGACAGCCCCCGTGCCCATGCCAGACCTGAAGAATGTCAAGTCCAAGATCGGCTCCACT c.1740
Q T A P V P M P D L K N V K S K I G S T p.580
. . . | 11 . . . g.120955
GAGAACCTGAAGCACCAGCCGGGAGGCGGGAAG | GTGCAGATAATTAATAAGAAGCTGGAT c.1800
E N L K H Q P G G G K | V Q I I N K K L D p.600
. . . . . . g.121015
CTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGC c.1860
L S N V Q S K C G S K D N I K H V P G G p.620
| 12 . . . . . . g.124915
GGCAGT | GTGCAAATAGTCTACAAACCAGTTGACCTGAGCAAGGTGACCTCCAAGTGTGGC c.1920
G S | V Q I V Y K P V D L S K V T S K C G p.640
. . | 13 . . . g.129268
TCATTAGGCAACATCCATCATAAACCAG | GAGGTGGCCAGGTGGAAGTAAAATCTGAGAAG c.1980
S L G N I H H K P G | G G Q V E V K S E K p.660
. . . . . . g.129328
CTTGACTTCAAGGACAGAGTCCAGTCGAAGATTGGGTCCCTGGACAATATCACCCACGTC c.2040
L D F K D R V Q S K I G S L D N I T H V p.680
. . | 14 . . . . g.134613
CCTGGCGGAGGAAATAAAAAG | ATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAA c.2100
P G G G N K K | I E T H K L T F R E N A K p.700
. . . . . . g.134673
GCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACG c.2160
A K T D H G A E I V Y K S P V V S G D T p.720
. . . . . . g.134733
TCTCCACGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCC c.2220
S P R H L S N V S S T G S I D M V D S P p.740
. . . . . g.134790
CAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGA c.2277
Q L A T L A D E V S A S L A K Q G L X p.758
. . . . . . g.134850
tcaggcccctggggcggtcaataattgtggagaggagagaatgagagagtgtggaaaaaa c.*60
. . . . . . g.134910
aaagaataatgacccggcccccgccctctgcccccagctgctcctcgcagttcggttaat c.*120
. . . . . . g.134970
tggttaatcacttaacctgcttttgtcactcggctttggctcgggacttcaaaatcagtg c.*180
. . . . . . g.135030
atgggagtaagagcaaatttcatctttccaaattgatgggtgggctagtaataaaatatt c.*240
. . . . . . g.135090
taaaaaaaaacattcaaaaacatggccacatccaacatttcctcaggcaattccttttga c.*300
. . . . . . g.135150
ttcttttttcttccccctccatgtagaagagggagaaggagaggctctgaaagctgcttc c.*360
. . . . . . g.135210
tgggggatttcaagggactgggggtgccaaccacctctggccctgttgtgggggtgtcac c.*420
. . . . . . g.135270
agaggcagtggcagcaacaaaggatttgaaacttggtgtgttcgtggagccacaggcaga c.*480
. . . . . . g.135330
cgatgtcaaccttgtgtgagtgtgacgggggttggggtggggcgggaggccacgggggag c.*540
. . . . . . g.135390
gccgaggcaggggctgggcagaggggagaggaagcacaagaagtgggagtgggagaggaa c.*600
. . . . . . g.135450
gccacgtgctggagagtagacatccccctccttgccgctgggagagccaaggcctatgcc c.*660
. . . . . . g.135510
acctgcagcgtctgagcggccgcctgtccttggtggccgggggtgggggcctgctgtggg c.*720
. . . . . . g.135570
tcagtgtgccaccctctgcagggcagcctgtgggagaagggacagcgggtaaaaagagaa c.*780
. . . . . . g.135630
ggcaagctggcaggagggtggcacttcgtggatgacctccttagaaaagactgaccttga c.*840
. . . . . . g.135690
tgtcttgagagcgctggcctcttcctccctccctgcagggtagggggcctgagttgaggg c.*900
. . . . . . g.135750
gcttccctctgctccacagaaaccctgttttattgagttctgaaggttggaactgctgcc c.*960
. . . . . . g.135810
atgattttggccactttgcagacctgggactttagggctaaccagttctctttgtaagga c.*1020
. . . . . . g.135870
cttgtgcctcttgggagacgtccacccgtttccaagcctgggccactggcatctctggag c.*1080
. . . . . . g.135930
tgtgtgggggtctgggaggcaggtcccgagccccctgtccttcccacggccactgcagtc c.*1140
. . . . . . g.135990
accccgtctgcgccgctgtgctgttgtctgccgtgagagcccaatcactgcctatacccc c.*1200
. . . . . . g.136050
tcatcacacgtcacaatgtcccgaattcccagcctcaccaccccttctcagtaatgaccc c.*1260
. . . . . . g.136110
tggttggttgcaggaggtacctactccatactgagggtgaaattaagggaaggcaaagtc c.*1320
. . . . . . g.136170
caggcacaagagtgggaccccagcctctcactctcagttccactcatccaactgggaccc c.*1380
. . . . . . g.136230
tcaccacgaatctcatgatctgattcggttccctgtctcctcctcccgtcacagatgtga c.*1440
. . . . . . g.136290
gccagggcactgctcagctgtgaccctaggtgtttctgccttgttgacatggagagagcc c.*1500
. . . . . . g.136350
ctttcccctgagaaggcctggccccttcctgtgctgagcccacagcagcaggctgggtgt c.*1560
. . . . . . g.136410
cttggttgtcagtggtggcaccaggatggaagggcaaggcacccagggcaggcccacagt c.*1620
. . . . . . g.136470
cccgctgtcccccacttgcaccctagcttgtagctgccaacctcccagacagcccagccc c.*1680
. . . . . . g.136530
gctgctcagctccacatgcatagtatcagccctccacacccgacaaaggggaacacaccc c.*1740
. . . . . . g.136590
ccttggaaatggttcttttcccccagtcccagctggaagccatgctgtctgttctgctgg c.*1800
. . . . . . g.136650
agcagctgaacatatacatagatgttgccctgccctccccatctgcaccctgttgagttg c.*1860
. . . . . . g.136710
tagttggatttgtctgtttatgcttggattcaccagagtgactatgatagtgaaaagaaa c.*1920
. . . . . . g.136770
aaaaaaaaaaaaaaaggacgcatgtatcttgaaatgcttgtaaagaggtttctaacccac c.*1980
. . . . . . g.136830
cctcacgaggtgtctctcacccccacactgggactcgtgtggcctgtgtggtgccaccct c.*2040
. . . . . . g.136890
gctggggcctcccaagttttgaaaggctttcctcagcacctgggacccaacagagaccag c.*2100
. . . . . . g.136950
cttctagcagctaaggaggccgttcagctgtgacgaaggcctgaagcacaggattaggac c.*2160
. . . . . . g.137010
tgaagcgatgatgtccccttccctacttccccttggggctccctgtgtcagggcacagac c.*2220
. . . . . . g.137070
taggtcttgtggctggtctggcttgcggcgcgaggatggttctctctggtcatagcccga c.*2280
. . . . . . g.137130
agtctcatggcagtcccaaaggaggcttacaactcctgcatcacaagaaaaaggaagcca c.*2340
. . . . . . g.137190
ctgccagctggggggatctgcagctcccagaagctccgtgagcctcagccacccctcaga c.*2400
. . . . . . g.137250
ctgggttcctctccaagctcgccctctggaggggcagcgcagcctcccaccaagggccct c.*2460
. . . . . . g.137310
gcgaccacagcagggattgggatgaattgcctgtcctggatctgctctagaggcccaagc c.*2520
. . . . . . g.137370
tgcctgcctgaggaaggatgacttgacaagtcaggagacactgttcccaaagccttgacc c.*2580
. . . . . . g.137430
agagcacctcagcccgctgaccttgcacaaactccatctgctgccatgagaaaagggaag c.*2640
. . . . . . g.137490
ccgcctttgcaaaacattgctgcctaaagaaactcagcagcctcaggcccaattctgcca c.*2700
. . . . . . g.137550
cttctggtttgggtacagttaaaggcaaccctgagggacttggcagtagaaatccagggc c.*2760
. . . . . . g.137610
ctcccctggggctggcagcttcgtgtgcagctagagctttacctgaaaggaagtctctgg c.*2820
. . . . . . g.137670
gcccagaactctccaccaagagcctccctgccgttcgctgagtcccagcaattctcctaa c.*2880
. . . . . . g.137730
gttgaagggatctgagaaggagaaggaaatgtggggtagatttggtggtggttagagata c.*2940
. . . . . . g.137790
tgcccccctcattactgccaacagtttcggctgcatttcttcacgcacctcggttcctct c.*3000
. . . . . . g.137850
tcctgaagttcttgtgccctgctcttcagcaccatgggccttcttatacggaaggctctg c.*3060
. . . . . . g.137910
ggatctcccccttgtggggcaggctcttggggccagcctaagatcatggtttagggtgat c.*3120
. . . . . . g.137970
cagtgctggcagataaattgaaaaggcacgctggcttgtgatcttaaatgaggacaatcc c.*3180
. . . . . . g.138030
ccccagggctgggcactcctcccctcccctcacttctcccacctgcagagccagtgtcct c.*3240
. . . . . . g.138090
tgggtgggctagataggatatactgtatgccggctccttcaagctgctgactcactttat c.*3300
. . . . . . g.138150
caatagttccatttaaattgacttcagtggtgagactgtatcctgtttgctattgcttgt c.*3360
. . . . . . g.138210
tgtgctatggggggaggggggaggaatgtgtaagatagttaacatgggcaaagggagatc c.*3420
. . . . . . g.138270
ttggggtgcagcacttaaactgcctcgtaacccttttcatgatttcaaccacatttgcta c.*3480
. . . . . . g.138330
gagggagggagcagccacggagttagaggcccttggggtttctcttttccactgacaggc c.*3540
. . . . . . g.138390
tttcccaggcagctggctagttcattccctccccagccaggtgcaggcgtaggaatatgg c.*3600
. . . . . . g.138450
acatctggttgctttggcctgctgccctctttcaggggtcctaagcccacaatcatgcct c.*3660
. . . . . . g.138510
ccctaagaccttggcatccttccctctaagccgttggcacctctgtgccacctctcacac c.*3720
. . . . . . g.138570
tggctccagacacacagcctgtgcttttggagctgagatcactcgcttcaccctcctcat c.*3780
. . . . . . g.138630
ctttgttctccaagtaaagccacgaggtcggggcgagggcagaggtgatcacctgcgtgt c.*3840
. . . . . . g.138690
cccatctacagacctgcagcttcataaaacttctgatttctcttcagctttgaaaagggt c.*3900
. . . . . . g.138750
taccctgggcactggcctagagcctcacctcctaatagacttagccccatgagtttgcca c.*3960
. . . . . . g.138810
tgttgagcaggactatttctggcacttgcaagtcccatgatttcttcggtaattctgagg c.*4020
. . . . . . g.138870
gtggggggagggacatgaaatcatcttagcttagctttctgtctgtgaatgtctatatag c.*4080
. . . . . . g.138930
tgtattgtgtgttttaacaaatgatttacactgactgttgctgtaaaagtgaatttggaa c.*4140
. . g.138953
ataaagttattactctgattaaa c.*4163
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 20a
©2004-2017 Leiden University Medical Center