(used for variant description)
(last modified April 9, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_007009.2 in the ZPBP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering ZPBP transcript NM_007009.2.
(upstream sequence)
. g.5010
ggctgcaggt c.-61
. . . . . . g.5070
gggcgcgcgttgcctaacgaccttccgcgcggacggtgggcaggcgacggcggcgtgtgg c.-1
. . . . . . g.5130
ATGGAGGCCTTCGCCCTTGGCCCAGCGCGGCGGGGCAGGCGGCGGACCCGGGCCGCCGGC c.60
M E A F A L G P A R R G R R R T R A A G p.20
. . . . . . g.5190
TCCCTGCTCTCTCGGGCCGCCATCCTCCTCTTTATCTCCGCCTTCCTGGTGCGGGTGCCC c.120
S L L S R A A I L L F I S A F L V R V P p.40
| 02. . . . . . g.8608
TCATCAG | TTGGACACTTGGTTCGATTACCAAGAGCTTTTCGCTTGACCAAAGATTCAGTG c.180
S S V | G H L V R L P R A F R L T K D S V p.60
. . | 03 . . . g.16397
AAAATAGTGGGATCAACAAGTTTTCCAG | TGAAAGCGTATGTCATGCTCCATCAAAAGAGT c.240
K I V G S T S F P V | K A Y V M L H Q K S p.80
. . . . . . g.16457
CCACACGTGTTATGTGTAACGCAACAACTGCGAAATGCTGAACTGATAGACCCATCATTC c.300
P H V L C V T Q Q L R N A E L I D P S F p.100
. . . | 04 . . . g.40149
CAATGGTATGGGCCTAAAGGAAAAGTTGTTTCAG | TAGAAAACCGCACTGCACAAATAACA c.360
Q W Y G P K G K V V S V | E N R T A Q I T p.120
. . . . . . g.40209
TCCACAGGAAGCCTTGTATTCCAAAATTTTGAGGAGAGTATGAGTGGAATTTATACATGT c.420
S T G S L V F Q N F E E S M S G I Y T C p.140
. . . . . . g.40269
TTCCTCGAATATAAACCTACTGTGGAAGAAATTGTTAAACGTCTTCAACTAAAATATGCT c.480
F L E Y K P T V E E I V K R L Q L K Y A p.160
| 05. . . . . . g.67007
ATATATG | CTTATCGTGAGCCTCATTATTATTATCAGTTCACAGCTCGATATCATGCAGCT c.540
I Y A | Y R E P H Y Y Y Q F T A R Y H A A p.180
. . . . . . g.67067
CCCTGCAATAGCATTTATAATATTTCTTTTGAGAAGAAACTTCTTCAGATTTTAAGCAAA c.600
P C N S I Y N I S F E K K L L Q I L S K p.200
. . . . . . g.67127
CTGCTTCTTGACCTTTCATGTGAAATTTCCTTACTTAAGTCTGAATGCCATCGCGTTAAA c.660
L L L D L S C E I S L L K S E C H R V K p.220
. . . . | 06 . . g.79962
ATGCAAAGAGCTGGTTTGCAAAATGAATTGTTCTTTGCATTTTCAG | TTTCATCTCTAGAC c.720
M Q R A G L Q N E L F F A F S V | S S L D p.240
. . . . . . g.80022
ACTGAAAAAGGACCCAAGCGATGTACAGACCATAACTGTGAACCTTACAAAAGACTTTTT c.780
T E K G P K R C T D H N C E P Y K R L F p.260
| 07 . . . . . . g.114802
AAG | GCTAAAAATCTCATAGAGAGATTTTTTAATCAACAAGTAGAAATTCTTGGCAGACGT c.840
K | A K N L I E R F F N Q Q V E I L G R R p.280
. . . . . . g.114862
GCAGAACAATTACCTCAAATATACTATATTGAAGGTACTCTCCAAATGGTTTGGATTAAT c.900
A E Q L P Q I Y Y I E G T L Q M V W I N p.300
. . . . . . g.114922
CGCTGCTTTCCAGGATATGGAATGAATGTCCAGCAACATCCAAAATGTCCTGAGTGCTGT c.960
R C F P G Y G M N V Q Q H P K C P E C C p.320
| 08 . . . . . . g.160701
G | TGATCTGCAGCCCTGGATCATATAACCCCCGTGATGGAATTCATTGCCTTCAATGCAAT c.1020
V | I C S P G S Y N P R D G I H C L Q C N p.340
. . . g.160737
AGCAGCCTGGTGTATGGAGCAAAAACGTGCTTATAA c.1056
S S L V Y G A K T C L X p.351
. . . . . . g.160797
gccattatcttcagttattcagtggtttattaaatgcaaagtatatatttgaaatattaa c.*60
. . . . g.160838
cataataaattattatgccaaaattaatcatattttacaaa c.*101
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 27
©2004-2022 Leiden University Medical Center