(used for variant description)
(last modified July 25, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000367.2 in the TPMT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012137.1, covering TPMT transcript NM_000367.2.
(upstream sequence)
. . . g.5035
gcgggcggaggcggggcgcggagaagtggcggagg c.-121
. . . . . . g.5095
tggaagcggaggcgtacccgcccctggggacgtcattggtggcggaggcaatggccggca c.-61
. . | 02 . . . . g.11016
accagctgtaagcgag | gcacggaagacatatgcttgtgagacaaaggtgtctctgaaact c.-1
. . . . . . g.11076
ATGGATGGTACAAGAACTTCACTTGACATTGAAGAGTACTCGGATACTGAGGTACAGAAA c.60
M D G T R T S L D I E E Y S D T E V Q K p.20
. . . . . . g.11136
AACCAAGTACTAACTCTGGAAGAATGGCAAGACAAGTGGGTGAACGGCAAGACTGCTTTT c.120
N Q V L T L E E W Q D K W V N G K T A F p.40
. . | 03 . . . . g.12268
CATCAGGAACAAGGACATCA | GCTATTAAAGAAGCATTTAGATACTTTCCTTAAAGGCAAG c.180
H Q E Q G H Q | L L K K H L D T F L K G K p.60
. . . . . | 04 . g.16422
AGTGGACTGAGGGTATTTTTTCCTCTTTGCGGAAAAGCGGTTGAGATGAAATG | GTTTGCA c.240
S G L R V F F P L C G K A V E M K W | F A p.80
. . . . . . g.16482
GACCGGGGACACAGTGTAGTTGGTGTGGAAATCAGTGAACTTGGGATACAAGAATTTTTT c.300
D R G H S V V G V E I S E L G I Q E F F p.100
. . . . . . g.16542
ACAGAGCAGAATCTTTCTTACTCAGAAGAACCAATCACCGAAATTCCTGGAACCAAAGTA c.360
T E Q N L S Y S E E P I T E I P G T K V p.120
| 05 . . . . . | 06 g.21107
TTTAAG | AGTTCTTCGGGGAACATTTCATTGTACTGTTGCAGTATTTTTGATCTTCCCAG | G c.420
F K | S S S G N I S L Y C C S I F D L P R | p.140
. . . . . . g.21167
ACAAATATTGGCAAATTTGACATGATTTGGGATAGAGGAGCATTAGTTGCCATCAATCCA c.480
T N I G K F D M I W D R G A L V A I N P p.160
. | 07 . . . . . g.26300
GGTGATCGCAAATG | CTATGCAGATACAATGTTTTCCCTCCTGGGAAAGAAGTTTCAGTAT c.540
G D R K C | Y A D T M F S L L G K K F Q Y p.180
. . . . | 08 . . g.27986
CTCCTGTGTGTTCTTTCTTATGATCCAACTAAACATCCAG | GTCCACCATTTTATGTTCCA c.600
L L C V L S Y D P T K H P G | P P F Y V P p.200
. . | 09 . . . . g.29398
CATGCTGAAATTGAAAGGTTGTTTG | GTAAAATATGCAATATACGTTGTCTTGAGAAGGTT c.660
H A E I E R L F G | K I C N I R C L E K V p.220
. . . . . . g.29458
GATGCTTTTGAAGAACGACATAAAAGTTGGGGAATTGACTGTCTTTTTGAAAAGTTATAT c.720
D A F E E R H K S W G I D C L F E K L Y p.240
. g.29476
CTACTTACAGAAAAGTAA c.738
L L T E K X p.245
. . . . . . g.29536
atgagacatagataaaataaaatcacactgacatgtttttgaggaattgaaaattatgct c.*60
. . . . . . g.29596
aaagcctgaaaatgtaatggatgaatttttaaaattgtttataaatcatatgatagatct c.*120
. . . . . . g.29656
ttactaaaaatggctttttagtaaagccatttactttttctaaaaaagttttagaagaaa c.*180
. . . . . . g.29716
aagatgtaactaaacttttaaagtagctcctttggagaggagattatgatgtgaaagatt c.*240
. . . . . . g.29776
atgcctatgtgtcttgcagattgcaagatattttaccaatcagcatgtgttacctgtaca c.*300
. . . . . . g.29836
attaaaaaaatatttcaaaatgcaatgcatattaaatataatacacacagaaaaactggc c.*360
. . . . . . g.29896
atttattttgttttatttttttgagatggagtttcgttcttgttgcccaacctggagtgc c.*420
. . . . . . g.29956
aatggtgcaatctcagctcactgcaacctctgcctcccaggttcaggtgattctcctgcc c.*480
. . . . . . g.30016
tcagcctcctgagtagctgggattacaggtgtgcgccaccacgcccagctaattttttgt c.*540
. . . . . . g.30076
atttttagtagagacagggtttcaccatgttggtcaggctgatctcgagctcctgacctc c.*600
. . . . . . g.30136
aggtgatctacccacctcggcctcccaaagtgctgggattacaggcgtgagccactgcac c.*660
. . . . . . g.30196
ctggcctgacattctttatgaaatttagaattgttgaagaactataacatttcagtaggg c.*720
. . . . . . g.30256
ttcaaggtggtcccaaaagttatataaaagattagtttttactataaacccttgtctttt c.*780
. . . . . . g.30316
actcagatcctagcatcccttttcacatggtttctccatgtatataacagaatcaagaaa c.*840
. . . . . . g.30376
caaattttaattaaacaatctgtaacagaatcaagaaacaaatacattttaattaaacaa c.*900
. . . . . . g.30436
tctatatggaacaaacattcccaaattctaagaataaatttttctttaagttttctctga c.*960
. . . . . . g.30496
gtttggcaattgttgttttttataatttaatctgtttaaatcatcaggtcttataaaata c.*1020
. . . . . . g.30556
taatgtacttagagctggattcatggctgtttattatgaaaggttagatttctcagttct c.*1080
. . . . . . g.30616
tctttaaccacattttgttatatcagacagtcctctataactctgtactacccaacaact c.*1140
. . . . . . g.30676
aaatggtttagattgtttagctcatgttaataggatggttgtgtattataaaaaacgagt c.*1200
. . . . . . g.30736
tacgtgtgtgtgtgcacgcatgcacgcacatgtgctggcttaaaggttgttaatgcaagg c.*1260
. . . . . . g.30796
tttggggtcccctttaacactggtgaaagctacggtactctccccagagatatgtcttgt c.*1320
. . . . . . g.30856
cagcctctctagttccccttggcctgcatgtacaaacttctaccctagaagctctctgcc c.*1380
. . . . . . g.30916
atcgatgtattctaatagatttgtaaggctattaatttgaagcaactccttgctcacagt c.*1440
. . . . . . g.30976
gattcttgcttctctgagacctgctcccagtcgatactgtgggcttcagaagccatgact c.*1500
. . . . . . g.31036
ccccaactctgcctgtatcaccggttgaatggacaactaacccgagctggaccaacacaa c.*1560
. . . . . . g.31096
ttctctccagagacttttgattttacttttatgtagagacagggtctcactttgttgccc c.*1620
. . . . . . g.31156
acgctgatgttgaacttgacgtgaggcctcaagcagtcctcctgtcttggccacccaaag c.*1680
. . . . . . g.31216
tgctaggattacaggtatgagccattgcgctggccctcttcataggcttttggacttggg c.*1740
. . . . . . g.31276
aatagaaaagcaaccccgtctctactaaaaatacaaaaaaattagccaggcgtggtggca c.*1800
. . . . . . g.31336
cgtgcctgtaatcccagctacttgggaggctgaggcaggagaatcacttgaacctaggag c.*1860
. . . . . . g.31396
gcggaggttgcagtgagctgagatcatgccactgcacgcaagcctgggcaacagagcaag c.*1920
. . . . . . g.31456
actctgtctcaaaagaaagaaaaagaaaagaaaaaaaagaaaggcaagttgactgctgaa c.*1980
. . . . . . g.31516
aggggaatctgtgtacgcctgggagctgtggggcagccacattccagcacatggatctga c.*2040
. . . . . . g.31576
gaaacagaacgctgatctgcagaaagagatgagaaccaaagagaggccacctgcgtcctg c.*2100
. . . . . . g.31636
ggtccattttcatcctccctgaagcccagctgcccagggtggggagaaacaccctgtgtc c.*2160
. . . . . . g.31696
catgggatagagtcctttccgcttgcagttgtgcccaaagaatcttaaatacaaatgaga c.*2220
. . . . . . g.31756
tatccttaggtagttgatcatttatgtaatatgtgtcttcactggggaatactgacttcc c.*2280
. . . . . . g.31816
taaaatctcaagatggaagatataccacatgtaaattattttagagcaattaaattgttt c.*2340
. g.31833
tcaggattttccaaaaa c.*2357
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 10c
©2004-2014 Leiden University Medical Center