(used for variant description)
(last modified April 3, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000391.3 in the TPP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008653.1, covering TPP1 transcript NM_000391.3.
(upstream sequence)
g.5001
g c.-61
. . . . . . g.5061
gtggtggaatatagagctcatgtgatccgtcacatgacagcagatccgcggaagggcaga c.-1
. | 02. . . . . g.5237
ATGGGACTCCAAGCCTG | CCTCCTAGGGCTCTTTGCCCTCATCCTCTCTGGCAAATGCAGT c.60
M G L Q A C | L L G L F A L I L S G K C S p.20
. . | 03 . . . g.5577
TACAGCCCGGAGCCCGACCAGCGGAGGAC | GCTGCCCCCAGGCTGGGTGTCCCTGGGCCGT c.120
Y S P E P D Q R R T | L P P G W V S L G R p.40
. . . . . . g.5637
GCGGACCCTGAGGAAGAGCTGAGTCTCACCTTTGCCCTGAGACAGCAGAATGTGGAAAGA c.180
A D P E E E L S L T F A L R Q Q N V E R p.60
. . . . | 04 . g.6696
CTCTCGGAGCTGGTGCAGGCTGTGTCGGATCCCAGCTCTCCTCAATACG | GAAAATACCTG c.240
L S E L V Q A V S D P S S P Q Y G | K Y L p.80
. . . . . . g.6756
ACCCTAGAGAATGTGGCTGATCTGGTGAGGCCATCCCCACTGACCCTCCACACGGTGCAA c.300
T L E N V A D L V R P S P L T L H T V Q p.100
. . . . . . g.6816
AAATGGCTCTTGGCAGCCGGAGCCCAGAAGTGCCATTCTGTGATCACACAGGACTTTCTG c.360
K W L L A A G A Q K C H S V I T Q D F L p.120
. . | 05 . . . . g.7073
ACTTGCTGGCTGAGCATCCG | ACAAGCAGAGCTGCTGCTCCCTGGGGCTGAGTTTCATCAC c.420
T C W L S I R | Q A E L L L P G A E F H H p.140
. . . . . . g.7133
TATGTGGGAGGACCTACGGAAACCCATGTTGTAAGGTCCCCACATCCCTACCAGCTTCCA c.480
Y V G G P T E T H V V R S P H P Y Q L P p.160
. . | 06 . . . g.7340
CAGGCCTTGGCCCCCCATGTGGACTTTG | TGGGGGGACTGCACCGTTTTCCCCCAACATCA c.540
Q A L A P H V D F V | G G L H R F P P T S p.180
. . . . . . g.7400
TCCCTGAGGCAACGTCCTGAGCCGCAGGTGACAGGGACTGTAGGCCTGCATCTGGGGGTA c.600
S L R Q R P E P Q V T G T V G L H L G V p.200
. . . . . . g.7460
ACCCCCTCTGTGATCCGTAAGCGATACAACTTGACCTCACAAGACGTGGGCTCTGGCACC c.660
T P S V I R K R Y N L T S Q D V G S G T p.220
. . | 07. . . . g.7635
AGCAATAACAGCCAAGCCTGTGCCCAG | TTCCTGGAGCAGTATTTCCATGACTCAGACCTG c.720
S N N S Q A C A Q | F L E Q Y F H D S D L p.240
. . . . . . g.7695
GCTCAGTTCATGCGCCTCTTCGGTGGCAACTTTGCACATCAGGCATCAGTAGCCCGTGTG c.780
A Q F M R L F G G N F A H Q A S V A R V p.260
. . . . . . g.7755
GTTGGACAACAGGGCCGGGGCCGGGCCGGGATTGAGGCCAGTCTAGATGTGCAGTACCTG c.840
V G Q Q G R G R A G I E A S L D V Q Y L p.280
. . . . | 08 . . g.7972
ATGAGTGCTGGTGCCAACATCTCCACCTGGGTCTACAGTAGCCCTG | GCCGGCATGAGGGA c.900
M S A G A N I S T W V Y S S P G | R H E G p.300
. . . . . . g.8032
CAGGAGCCCTTCCTGCAGTGGCTCATGCTGCTCAGTAATGAGTCAGCCCTGCCACATGTG c.960
Q E P F L Q W L M L L S N E S A L P H V p.320
. . . . . . g.8092
CATACTGTGAGCTATGGAGATGATGAGGACTCCCTCAGCAGCGCCTACATCCAGCGGGTC c.1020
H T V S Y G D D E D S L S S A Y I Q R V p.340
. . . . . | 09 . g.8392
AACACTGAGCTCATGAAGGCTGCCGCTCGGGGTCTCACCCTGCTCTTCGCCTCAG | GTGAC c.1080
N T E L M K A A A R G L T L L F A S G | D p.360
. . . . . . g.8452
AGTGGGGCCGGGTGTTGGTCTGTCTCTGGAAGACACCAGTTCCGCCCTACCTTCCCTGCC c.1140
S G A G C W S V S G R H Q F R P T F P A p.380
| 10 . . . . . . g.8954
TCCAG | CCCCTATGTCACCACAGTGGGAGGCACATCCTTCCAGGAACCTTTCCTCATCACA c.1200
S S | P Y V T T V G G T S F Q E P F L I T p.400
. . . . . . g.9014
AATGAAATTGTTGACTATATCAGTGGTGGTGGCTTCAGCAATGTGTTCCCACGGCCTTCA c.1260
N E I V D Y I S G G G F S N V F P R P S p.420
| 11 . . . . . . g.9186
TACCAG | GAGGAAGCTGTAACGAAGTTCCTGAGCTCTAGCCCCCACCTGCCACCATCCAGT c.1320
Y Q | E E A V T K F L S S S P H L P P S S p.440
. . . . . . g.9246
TACTTCAATGCCAGTGGCCGTGCCTACCCAGATGTGGCTGCACTTTCTGATGGCTACTGG c.1380
Y F N A S G R A Y P D V A A L S D G Y W p.460
. . . . | 12 . . g.9485
GTGGTCAGCAACAGAGTGCCCATTCCATGGGTGTCCGGAACCTCG | GCCTCTACTCCAGTG c.1440
V V S N R V P I P W V S G T S | A S T P V p.480
. . . . . . g.9545
TTTGGGGGGATCCTATCCTTGATCAATGAGCACAGGATCCTTAGTGGCCGCCCCCCTCTT c.1500
F G G I L S L I N E H R I L S G R P P L p.500
. . . . . | 13 . g.9784
GGCTTTCTCAACCCAAGGCTCTACCAGCAGCATGGGGCAGGACTCTTTGAT | GTAACCCGT c.1560
G F L N P R L Y Q Q H G A G L F D | V T R p.520
. . . . . . g.9844
GGCTGCCATGAGTCCTGTCTGGATGAAGAGGTAGAGGGCCAGGGTTTCTGCTCTGGTCCT c.1620
G C H E S C L D E E V E G Q G F C S G P p.540
. . . . . . g.9904
GGCTGGGATCCTGTAACAGGCTGGGGAACACCCAACTTCCCAGCTTTGCTGAAGACTCTA c.1680
G W D P V T G W G T P N F P A L L K T L p.560
. g.9916
CTCAACCCCTGA c.1692
L N P X p.563
. . . . . . g.9976
ccctttcctatcaggagagatggcttgtcccctgccctgaagctggcagttcagtccctt c.*60
. . . . . . g.10036
attctgccctgttggaagccctgctgaaccctcaactattgactgctgcagacagcttat c.*120
. . . . . . g.10096
ctccctaaccctgaaatgctgtgagcttgacttgactcccaaccctaccatgctccatca c.*180
. . . . . . g.10156
tactcaggtctccctactcctgccttagattcctcaataagatgctgtaactagcatttt c.*240
. . . . . . g.10216
ttgaatgcctctccctccgcatctcatctttctcttttcaatcaggcttttccaaagggt c.*300
. . . . . . g.10276
tgtatacagactctgtgcactatttcacttgatattcattccccaattcactgcaaggag c.*360
. . . . . . g.10336
acctctactgtcaccgtttactctttcctaccctgacatccagaaacaatggcctccagt c.*420
. . . . . . g.10396
gcatacttctcaatctttgctttatggcctttccatcatagttgcccactccctctcctt c.*480
. . . . . . g.10456
acttagcttccaggtcttaacttctctgactactcttgtcttcctctctcatcaatttct c.*540
. . . . . . g.10516
gcttcttcatggaatgctgaccttcattgctccatttgtagatttttgctcttctcagtt c.*600
. . . . . . g.10576
tactcattgtcccctggaacaaatcactgacatctacaaccattaccatctcactaaata c.*660
. . . . . . g.10636
agactttctatccaataatgattgatacctcaaatgtaagatgcgtgatactcaacattt c.*720
. . . . . . g.10696
catcgtccaccttcccaaccccaaacaattccatctcgtttcttcttggtaaatgatgct c.*780
. . . . . . g.10756
atgctttttccaaccaagccagaaacctgtgtcatcttttcaccccaccttcaatcaaca c.*840
. . . . . . g.10816
agtcctcaatcaacaagtcctactgactgcacatcttaaatatatctttatcagtccaca c.*900
. . . . . . g.10876
agtccttccaattatatttcccaagtatatctagaacttatccacttatatccccactgc c.*960
. . . . . . g.10936
tactaccttagtttagggctatattctcttgaaaaaaagtgtccttacttcctgccaatc c.*1020
. . . . . . g.10996
cccaagtcatcttccagagtaaaatgcaaatcccatcaggccacttggatgaaaaccctt c.*1080
. . . . . . g.11056
caaggattactggatagaattcaggctttcccctccagcccccaatcatagctcacaaac c.*1140
. . . . . . g.11116
cttccttgctatttgttcttaagtaaaaaatcatttttcctcctccctccccaaacccca c.*1200
. . . . . . g.11176
aggaactctcactcttgctcaagctgttccgtccccttaccacccctgatacaactgcca c.*1260
. . . . . . g.11236
ggttaatttccagaattcttgcaagactcagttcagaagtcaccttctttcgtgaatgtt c.*1320
. . . . . . g.11296
ttgattccctgaggctactttattttggtatggctgaaaaatcctagattttctaaacaa c.*1380
. . . . . . g.11356
aacctgtttgaatcttggttctgatatggactaggagagagactgggtcaagtaagctta c.*1440
. . . . . . g.11416
tctccctgaggctgtttcctcgtctgttaagtgtgaatatcaatacctgcctttcataat c.*1500
. . . . . . g.11476
caccagggaataaagtggaataatgttgataacagtgcttggcacctggaagtaggtggc c.*1560
. . . . . . g.11536
agatgttaacgcccttcctcccttgcactgcgccccctgtgcctacctctagcattgtaa c.*1620
. . . . . . g.11596
cgaccacgtagtattgaaatggccagtttacttgtctgccttcctttccaagaccgttgg c.*1680
. . . . . . g.11656
tgcctagaggactagaatcgtgtcctatttaactttgtgttcccaggtcctagctcagga c.*1740
. . . . g.11696
gttggcaaataagaattaaatgtctgctacaccgaaaacc c.*1780
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center