(used for variant description)
(last modified July 9, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001110354.1 in the ZP3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033938.1, covering ZP3 transcript NM_001110354.1.
(upstream sequence)
. g.32441
tgcaggtacc c.-1
. . . . . . g.32501
ATGGAGCTGAGCTATAGGCTCTTCATCTGCCTCCTGCTCTGGGGTAGTACTGAGCTGTGC c.60
M E L S Y R L F I C L L L W G S T E L C p.20
. . . . . . g.32561
TACCCCCAACCCCTCTGGCTCTTGCAGGGTGGAGCCAGCCATCCTGAGACGTCCGTACAG c.120
Y P Q P L W L L Q G G A S H P E T S V Q p.40
. . . . . . g.32621
CCCGTACTGGTGGAGTGTCAGGAGGCCACTCTGATGGTCATGGTCAGCAAAGACCTTTTT c.180
P V L V E C Q E A T L M V M V S K D L F p.60
. . . . . . g.32681
GGCACCGGGAAGCTCATCAGGGCTGCTGACCTCACCTTGGGCCCAGAGGCCTGTGAGCCT c.240
G T G K L I R A A D L T L G P E A C E P p.80
. . . . . . g.32741
CTGGTCTCCATGGACACAGAAGATGTGGTCAGGTTTGAGGTTGGACTCCACGAGTGTGGC c.300
L V S M D T E D V V R F E V G L H E C G p.100
. | 02 . . . . . g.37039
AACAGCATGCAG | GTAACTGACGATGCCCTGGTGTACAGCACCTTCCTGCTCCATGACCCC c.360
N S M Q | V T D D A L V Y S T F L L H D P p.120
. . . . . . g.37099
CGCCCCGTGGGAAACCTGTCCATCGTGAGGACTAACCGCGCAGAGATTCCCATCGAGTGC c.420
R P V G N L S I V R T N R A E I P I E C p.140
. | 03 . . . . . g.40452
CGCTACCCCAG | GCAGGGCAATGTGAGCAGCCAGGCCATCCTGCCCACCTGGTTGCCCTTC c.480
R Y P R | Q G N V S S Q A I L P T W L P F p.160
. . . . . | 04 . g.40951
AGGACCACGGTGTTCTCAGAGGAGAAGCTGACTTTCTCTCTGCGTCTGATGGAGG | AGAAC c.540
R T T V F S E E K L T F S L R L M E E | N p.180
. . . . . . g.41011
TGGAACGCTGAGAAGAGGTCCCCCACCTTCCACCTGGGAGATGCAGCCCACCTCCAGGCA c.600
W N A E K R S P T F H L G D A A H L Q A p.200
. . . . . . g.41071
GAAATCCACACTGGCAGCCACGTGCCACTGCGGTTGTTTGTGGACCACTGCGTGGCCACA c.660
E I H T G S H V P L R L F V D H C V A T p.220
. . . . . | 05 . g.41521
CCGACACCAGACCAGAATGCCTCCCCTTATCACACCATCGTGGACTTCCATGG | CTGTCTT c.720
P T P D Q N A S P Y H T I V D F H G | C L p.240
. . . . . . g.41581
GTCGACGGTCTCACTGATGCCTCTTCTGCATTCAAAGTTCCTCGACCCGGGCCAGATACA c.780
V D G L T D A S S A F K V P R P G P D T p.260
. . . . . | 06 . g.47735
CTCCAGTTCACAGTGGATGTCTTCCACTTTGCTAATGACTCCAGAAACATG | ATATACATC c.840
L Q F T V D V F H F A N D S R N M | I Y I p.280
. . . . . . g.47795
ACCTGCCACCTGAAGGTCACCCTAGCTGAGCAGGACCCAGATGAACTCAACAAGGCCTGT c.900
T C H L K V T L A E Q D P D E L N K A C p.300
. . | 07 . . . . g.47988
TCCTTCAGCAAGCCTTCCAACAG | CTGGTTCCCAGTGGAAGGCTCGGCTGACATCTGTCAA c.960
S F S K P S N S | W F P V E G S A D I C Q p.320
. . . . . . g.48048
TGCTGTAACAAAGGTGACTGTGGCACTCCAAGCCATTCCAGGAGGCAGCCTCATGTCATG c.1020
C C N K G D C G T P S H S R R Q P H V M p.340
. . . . | 08 . . g.49338
AGCCAGTGGTCCAGGTCTGCTTCCCGTAACCGCAGGCATG | TGACAGAAGAAGCAGATGTC c.1080
S Q W S R S A S R N R R H V | T E E A D V p.360
. . . . . . g.49398
ACCGTGGGGCCACTGATCTTCCTGGACAGGAGGGGTGACCATGAAGTAGAGCAGTGGGCT c.1140
T V G P L I F L D R R G D H E V E Q W A p.380
. . . . . . g.49458
TTGCCTTCTGACACCTCAGTGGTGCTGCTGGGCGTAGGCCTGGCTGTGGTGGTGTCCCTG c.1200
L P S D T S V V L L G V G L A V V V S L p.400
. . . . . . g.49518
ACTCTGACTGCTGTTATCCTGGTTCTCACCAGGAGGTGTCGCACTGCCTCCCACCCTGTG c.1260
T L T A V I L V L T R R C R T A S H P V p.420
. g.49533
TCTGCTTCCGAATAA c.1275
S A S E X p.424
. g.49548
aagaagaaagcaata c.*15
(downstream sequence)
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