(used for mutation description)
(last modified September 14, 2012)
This file was created to facilitate the description of sequence variants in the GTDC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032930.1, covering GTDC2 transcript NM_032806.5.
(upstream sequence)
. . . . . g.5053
aggcgcacaggctccgcgccgggctcgcccgccgggcaggcgcacggcggaca c.-301
. . . . . . g.5113
cctgcgagcctggaggtggcggtcgctgcgaacccggcggcgcggccaaacctgtgctgg c.-241
. . . . . . g.5173
ctgcctgggccttctgggcctcctgggccagaagctggcgctgggggcggcggcggggtg c.-181
. . . . . . g.5233
ggaaagcggcgccgccgtggggcctcctggacgcgtcggcggaggtggcttcgtcccgcg c.-121
. . | 02 . . . . g.29592
gagtccaggcttcag | gctttcaccagttctcaggatgcccatagggatgggtgaagcctg c.-61
. . . . . . g.29652
cctggcctgtggtgcttcccagtggccgtcatctcattagggccccacagtggcattagg c.-1
. . . . . . g.29712
ATGCACCTCTCGGCGGTGTTCAACGCCCTCCTGGTGTCGGTGCTGGCAGCGGTCCTGTGG c.60
M H L S A V F N A L L V S V L A A V L W p.20
. . . . . . g.29772
AAGCATGTGCGGCTGCGTGAGCATGCAGCCACACTGGAGGAGGAGCTGGCCCTCAGCCGA c.120
K H V R L R E H A A T L E E E L A L S R p.40
. . . . . . g.29832
CAGGCCACAGAGCCAGCCCCAGCACTGAGGATCGACTACCCGAAGGCACTGCAGATCCTG c.180
Q A T E P A P A L R I D Y P K A L Q I L p.60
. . . . . . g.29892
ATGGAGGGCGGCACACACATGGTGTGCACGGGCCGCACGCACACAGACCGCATCTGCCGC c.240
M E G G T H M V C T G R T H T D R I C R p.80
. . . . . . g.29952
TTCAAGTGGCTCTGCTACTCCAACGAGGCTGAGGAGTTCATCTTCTTCCATGGCAACACC c.300
F K W L C Y S N E A E E F I F F H G N T p.100
. . . . . . g.30012
TCTGTCATGCTGCCCAACCTGGGCTCCCGGCGCTTCCAGCCAGCCCTGCTCGACCTATCC c.360
S V M L P N L G S R R F Q P A L L D L S p.120
. . . . . . g.30072
ACCGTGGAGGACCACAACACTCAGTACTTCAACTTCGTGGAGCTGCCTGCTGCTGCCCTG c.420
T V E D H N T Q Y F N F V E L P A A A L p.140
. . . . . . g.30132
CGCTTCATGCCCAAGCCGGTGTTCGTGCCAGACGTGGCCCTCATCGCCAACCGCTTCAAC c.480
R F M P K P V F V P D V A L I A N R F N p.160
. . . . . . g.30192
CCCGACAACCTCATGCACGTCTTTCATGACGACCTGCTGCCACTCTTCTACACCCTGCGG c.540
P D N L M H V F H D D L L P L F Y T L R p.180
. . . . . . g.30252
CAGTTTCCCGGCCTGGCCCACGAGGCACGGCTCTTCTTCATGGAGGGCTGGGGCGAGGGT c.600
Q F P G L A H E A R L F F M E G W G E G p.200
. . . . . . g.30312
GCACACTTCGACCTCTACAAGCTGCTCAGCCCCAAGCAGCCTCTCCTGCGGGCACAGCTG c.660
A H F D L Y K L L S P K Q P L L R A Q L p.220
. . . . . . g.30372
AAGACCCTGGGCCGGCTGCTGTGCTTCTCCCATGCTTTTGTGGGCCTCTCCAAGATCACT c.720
K T L G R L L C F S H A F V G L S K I T p.240
. . . . . . g.30432
ACCTGGTACCAGTATGGCTTTGTGCAGCCCCAGGGCCCGAAGGCCAACATCCTCGTCTCA c.780
T W Y Q Y G F V Q P Q G P K A N I L V S p.260
. . . . . . g.30492
GGCAATGAGATCCGGCAGTTTGCACGGTTCATGACAGAAAAGCTGAACGTGAGCCACACA c.840
G N E I R Q F A R F M T E K L N V S H T p.280
. . . . . . g.30552
GGAGTCCCCCTAGGCGAGGAGTACATTCTGGTCTTTAGCCGAACCCAGAACAGACTCATT c.900
G V P L G E E Y I L V F S R T Q N R L I p.300
. . . . . . g.30612
CTGAATGAGGCAGAGCTGCTGCTGGCACTGGCCCAGGAGTTCCAGATGAAGACAGTGACA c.960
L N E A E L L L A L A Q E F Q M K T V T p.320
. . . . . . g.30672
GTGTCCCTGGAGGACCACACCTTTGCTGATGTCGTGCGGCTGGTCAGCAATGCCTCCATG c.1020
V S L E D H T F A D V V R L V S N A S M p.340
. . . . . . g.30732
CTGGTCAGCATGCATGGGGCCCAGCTGGTCACCACCCTCTTCCTGCCCCGTGGGGCAACT c.1080
L V S M H G A Q L V T T L F L P R G A T p.360
. . . . . . g.30792
GTGGTAGAGCTCTTCCCATATGCTGTCAATCCCGACCACTACACTCCCTATAAGACGCTG c.1140
V V E L F P Y A V N P D H Y T P Y K T L p.380
. . . . . . g.30852
GCCATGCTGCCTGGCATGGACCTCCAGTATGTAGCCTGGCGGAACATGATGCCAGAGAAC c.1200
A M L P G M D L Q Y V A W R N M M P E N p.400
. . . . . . g.30912
ACAGTCACACACCCTGAGCGGCCCTGGGATCAGGGGGGCATCACCCATCTGGACCGGGCT c.1260
T V T H P E R P W D Q G G I T H L D R A p.420
. . . . . . g.30972
GAGCAAGCCCGTATCCTGCAAAGCCGTGAGGTCCCACGGCATCTCTGTTGCCGGAACCCC c.1320
E Q A R I L Q S R E V P R H L C C R N P p.440
. . . . . . g.31032
GAGTGGCTCTTCCGAATCTACCAGGACACCAAGGTGGACATCCCGTCCCTCATTCAAACC c.1380
E W L F R I Y Q D T K V D I P S L I Q T p.460
. . . . . . g.31092
ATACGGCGCGTGGTGAAGGGCCGGCCAGGACCACGGAAGCAGAAGTGGACAGTCGGCCTA c.1440
I R R V V K G R P G P R K Q K W T V G L p.480
. . . . . . g.31152
TATCCAGGCAAGGTGCGGGAGGCACGGTGCCAGGCGTCAGTGCATGGCGCCTCCGAGGCC c.1500
Y P G K V R E A R C Q A S V H G A S E A p.500
. . . . . . g.31212
CGCCTCACTGTCTCCTGGCAGATCCCATGGAACCTTAAATACCTGAAGGTGAGGGAGGTG c.1560
R L T V S W Q I P W N L K Y L K V R E V p.520
. . . . . . g.31272
AAGTACGAGGTGTGGCTGCAGGAGCAGGGGGAGAACACCTACGTGCCTTACATCCTGGCT c.1620
K Y E V W L Q E Q G E N T Y V P Y I L A p.540
. . . . . . g.31332
CTGCAGAACCACACCTTCACTGAGAACATCAAGCCCTTCACCACCTACCTGGTGTGGGTC c.1680
L Q N H T F T E N I K P F T T Y L V W V p.560
. . . . . . g.31392
CGCTGCATCTTCAACAAGATCCTCCTGGGACCCTTTGCAGATGTGCTGGTGTGCAACACG c.1740
R C I F N K I L L G P F A D V L V C N T p.580
g.31395
TAG c.1743
X p.580
. . . . . . g.31455
cgagcaggccacagcctggcctcgggaaggtggctcctgcagttcagcgtccctgggccc c.*60
. . . . . . g.31515
attaatcccactgtggagacttctgggaactatttattgagcaggcctgtgcctccacat c.*120
. . . . . . g.31575
catcttgttgtctctggggtgtggtgtcacagcactcctctttgccctagagataaggga c.*180
. . . . . . g.31635
cctgacttccccttctcccatcctgaacatttgtacccctggagaagttccttagcaggg c.*240
. . . . . . g.31695
aggaggaagaggagaggaggaagcaaagaatcacaaggaacctctggctaggtgatcctg c.*300
. . . . . . g.31755
atgtttcctactgagtttttctggtatccagatttctggaaaccgagtaatcatgtactg c.*360
. . . . . . g.31815
tttgattgggtggttcatctgcttccatcccagtgaaatttacctgtagcccagtgaagg c.*420
. . . . g.31855
gtgtgtttggaacattcattaaatgattctaagcatcttg c.*460
(downstream sequence)
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