(used for variant description)
(last modified May 25, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_032620.3 in the GTPBP3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering GTPBP3 transcript NM_032620.3.
(upstream sequence)
. . . g.7570
actttactagtcaagccgcggagtgggcggggccc c.-61
. . . . . . g.7630
cctgcccagacttgaagccacacaggcaggtcgggcaggcgggtcgcaggttgtaaatcc c.-1
. . . . . | 02 . g.8033
ATGTGGCGGGGGCTTTGGACCCTGGCGGCCCAAGCGGCACGTGGGCCTCGCAG | ATTGTGC c.60
M W R G L W T L A A Q A A R G P R R | L C p.20
. . . . . . g.8093
ACGCGCCGGAGCAGCGGCGCACCAGCCCCCGGCTCCGGCGCCACCATCTTCGCGCTAAGC c.120
T R R S S G A P A P G S G A T I F A L S p.40
. . . . . . g.8153
TCTGGCCAAGGCCGCTGCGGCATCGCAGTGATCCGGACCAGCGGCCCCGCCAGCGGCCAC c.180
S G Q G R C G I A V I R T S G P A S G H p.60
. . . . . . g.8213
GCCCTCCGAATTCTCACAGCACCCCGAGACCTGCCCCTTGCTCGCCACGCCAGCCTGCGC c.240
A L R I L T A P R D L P L A R H A S L R p.80
. . . . . . g.8273
CTGCTCAGCGATCCCCGCTCCGGGGAGCCTCTGGACCGCGCACTGGTGCTCTGGTTCCCA c.300
L L S D P R S G E P L D R A L V L W F P p.100
| 03 . . . . . . g.8442
G | GTCCCCAGAGTTTCACCGGTGAGGACTGCGTGGAGTTCCACGTGCATGGAGGCCCGGCA c.360
G | P Q S F T G E D C V E F H V H G G P A p.120
. . | 04 . . . g.8589
GTGGTGAGCGGCGTCCTGCAGGCCTTGG | GCAGCGTGCCAGGGCTTCGACCGGCGGAGGCA c.420
V V S G V L Q A L G | S V P G L R P A E A p.140
. . . . . . g.8649
GGCGAGTTCACCAGACGGGCGTTCGCCAATGGGAAGCTGAACCTGACCGAAGTGGAGGGG c.480
G E F T R R A F A N G K L N L T E V E G p.160
. . . . . . g.8709
CTGGCGGACCTTATCCACGCGGAAACAGAGGCGCAGCGGCGGCAGGCCCTCAGGCAGCTG c.540
L A D L I H A E T E A Q R R Q A L R Q L p.180
. . . . . | 05 . g.8981
GACGGAGAGCTGGGCCACCTCTGCCGTGGCTGGGCCGAGACCCTCACCAAA | GCTCTGGCC c.600
D G E L G H L C R G W A E T L T K | A L A p.200
. . . . . . g.9041
CACGTGGAGGCCTATATCGATTTCGGCGAGGATGACAACCTGGAGGAGGGGGTCCTGGAG c.660
H V E A Y I D F G E D D N L E E G V L E p.220
| 06 . . . . . . g.9197
CAAG | CCGACATCGAAGTACGGGCACTGCAGGTGGCCCTGGGTGCACATCTACGAGATGCC c.720
Q A | D I E V R A L Q V A L G A H L R D A p.240
. . . . . . g.9257
AGGCGCGGGCAGAGGCTCCGCTCAGGGGTGCACGTAGTGGTCACTGGACCCCCCAATGCG c.780
R R G Q R L R S G V H V V V T G P P N A p.260
. . | 07 . . . g.9484
GGCAAGAGCAGCCTAGTGAACCTGCTCA | GTCGGAAGCCTGTGTCCATCGTGTCCCCGGAG c.840
G K S S L V N L L S | R K P V S I V S P E p.280
. . . . . . g.9544
CCAGGGACCACCCGTGACGTGCTGGAGACCCCAGTCGACCTGGCCGGATTTCCTGTGCTG c.900
P G T T R D V L E T P V D L A G F P V L p.300
. . . . . . g.9604
CTGAGCGACACGGCTGGGTTGCGGGAGGGCGTGGGGCCCGTGGAGCAGGAGGGCGTGCGG c.960
L S D T A G L R E G V G P V E Q E G V R p.320
. | 08 . . . . . g.11108
CGCGCCCGGGAGAG | GCTAGAGCAGGCTGACCTCATTCTGGCCATGCTGGATGCTTCTGAC c.1020
R A R E R | L E Q A D L I L A M L D A S D p.340
. . . . . . g.11168
CTGGCCTCTCCCTCCAGTTGCAACTTCCTGGCCACCGTCGTAGCCTCTGTGGGAGCCCAG c.1080
L A S P S S C N F L A T V V A S V G A Q p.360
. . . . . . g.11228
AGCCCCAGTGACAGCAGCCAGCGCCTCCTCCTGGTGCTGAACAAGTCGGACCTGCTGTCC c.1140
S P S D S S Q R L L L V L N K S D L L S p.380
. . . . . . g.11288
CCGGAGGGCCCAGGTCCCGGTCCTGACCTGCCCCCGCACCTGCTGCTGTCCTGTCTGACG c.1200
P E G P G P G P D L P P H L L L S C L T p.400
. . . . . | 09 . g.11503
GGAGAGGGGCTGGACGGCCTCCTGGAGGCGCTGAGGAAGGAGCTAGCTGCAGT | GTGTGGG c.1260
G E G L D G L L E A L R K E L A A V | C G p.420
. . . . . . g.11563
GACCCGTCCACAGATCCCCCGCTGCTGACCCGAGCAAGGCACCAGCACCACCTCCAGGGT c.1320
D P S T D P P L L T R A R H Q H H L Q G p.440
. . . . . . g.11623
TGCCTGGATGCCCTCGGCCACTACAAGCAGTCAAAAGACCTGGCCCTGGCGGCAGAGGCG c.1380
C L D A L G H Y K Q S K D L A L A A E A p.460
. . . . . . g.11683
CTGCGGGTGGCCCGGGGTCACCTGACCCGGCTCACAGGTGGAGGGGGTACCGAGGAGATC c.1440
L R V A R G H L T R L T G G G G T E E I p.480
. . . g.11722
CTGGACATCATCTTCCAGGACTTCTGTGTGGGCAAGTGA c.1479
L D I I F Q D F C V G K X p.492
. . . . . . g.11782
cgggatccagggaagtcgcacccaagctgcgtggagacccaggagcctcgggggatctgg c.*60
. . . . . . g.11842
aaacagtttaggccaattgggattctcattcgcctgggaaagaacttgattctcaaatag c.*120
. . . . . . g.11902
tgaagcaacacagctgagaggtagtgagatccctgcagggactccctggagattcaggcc c.*180
. . . . . . g.11962
ctggaatggggctgaatggaggtcccgttcgacccttgatgctggggcatccgggttggg c.*240
. . . . . . g.12022
atggagataggaggatctcagtatatttgtttcgtagttttttatttattttgcaaatac c.*300
. . . . . . g.12082
caaaggaatgtaaaaaaaactcaggtgatctagaagtgtttattttcttcccttcccttc c.*360
. . . . . . g.12142
ccttccctttccttttccctttccctttccccttccccttccccttccccttcccctacc c.*420
. . . . . . g.12202
cttccctcctctgtctattgcccaggctggagtgcagtggtgcgaccttggctcactgca c.*480
. . . . . . g.12262
acctccatctccggggctcaagcgcttctcctgcctcagcctcctgagtagctgggatta c.*540
. . . . . . g.12322
caggcatgtgccagcatgcccggctaatttttttctttttttgagacagagtctcgctct c.*600
. . . . . . g.12382
gtcacccaggctggagttcagtggtgcgacctcggcttactgcaacctccacctcccggg c.*660
. . . . . . g.12442
ttcaagtgattctcctgcctcagcctcttgagtagctgggactacaggcgcacaccacca c.*720
. . . . . . g.12502
cgccaggctaatttttgtatttttagtagagacaaggtttcaccatgttgaccaggctgg c.*780
. . . . . . g.12562
tcttgaactccttgacctcaggtaatctgcctaccttggcctcccaaagtgctgggatca c.*840
. . . . . . g.12622
caggcgtgagctatcacacctggccccagaagtgtttcaacatggaaattttccttagcc c.*900
. . . . . . g.12682
cttctgtggttgtcatggcttaatgtgtgtctttccagaactttgaatgtttgcatactt c.*960
. . . . . . g.12742
gtggatgtacctttcaaatatgtttgtcttgtgtatcatatataaatggtattgtgttca c.*1020
g.12750
ttgctcta c.*1028
(downstream sequence)
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