(used for variant description)
(last modified July 9, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_207341.2 in the ZP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_034138.1, covering ZP1 transcript NM_207341.2.
(upstream sequence)
. . g.5020
gggtgtgtctgtggcgtctc c.-1
. . . . . . g.5080
ATGGCAGGAGGCTCAGCCACGACCTGGGGTTACCCTGTGGCCCTGCTACTGCTGGTTGCC c.60
M A G G S A T T W G Y P V A L L L L V A p.20
. . . . . . g.5140
ACCCTGGGGCTGGGTAGGTGGCTCCAGCCCGACCCTGGCCTCCCAGGCCTCCGGCACAGC c.120
T L G L G R W L Q P D P G L P G L R H S p.40
. . . . . . g.5200
TACGACTGTGGGATCAAGGGAATGCAGCTGCTGGTGTTCCCCAGGCCAGGCCAGACTCTC c.180
Y D C G I K G M Q L L V F P R P G Q T L p.60
. | 02 . . . . . g.6647
CGCTTCAAGGTGGTGG | ATGAATTTGGGAACCGATTTGATGTCAACAACTGCTCCATCTGC c.240
R F K V V D | E F G N R F D V N N C S I C p.80
. . . . . . g.6707
TACCACTGGGTCACCTCCAGGCCGCAGGAGCCTGCAGTCTTCTCGGCCGATTACAGAGGC c.300
Y H W V T S R P Q E P A V F S A D Y R G p.100
. | 03 . . . . g.7037
TGCCACGTGCTGGAGAAG | GATGGGCGTTTCCACCTGAGGGTGTTCATGGAGGCTGTGCTG c.360
C H V L E K | D G R F H L R V F M E A V L p.120
. . . . . . g.7097
CCCAATGGTCGTGTGGATGTGGCACAAGACGCTACTCTGATCTGTCCCAAACCTGACCCC c.420
P N G R V D V A Q D A T L I C P K P D P p.140
. . . . . . g.7157
TCCCGGACTCTGGACTCCCAGCTGGCACCACCCGCCATGTTCTCTGTCTCAACCCCACAA c.480
S R T L D S Q L A P P A M F S V S T P Q p.160
. . . . . . g.7217
ACCCTTTCCTTCCTCCCCACCTCTGGCCATACCTCCCAAGGCTCTGGCCATGCCTTTCCC c.540
T L S F L P T S G H T S Q G S G H A F P p.180
. . . . . . g.7277
AGCCCACTGGACCCAGGGCACAGCTCTGTCCACCCAACCCCTGCTTTACCATCCCCTGGA c.600
S P L D P G H S S V H P T P A L P S P G p.200
. . . . . . g.7337
CCTGGACCTACCCTCGCCACCCTGGCTCAACCCCACTGGGGCACCTTGGAACACTGGGAT c.660
P G P T L A T L A Q P H W G T L E H W D p.220
. . | 04 . . . . g.7828
GTGAACAAACGAGATTACATAG | GTACCCACCTGAGCCAGGAGCAGTGCCAGGTGGCCTCA c.720
V N K R D Y I G | T H L S Q E Q C Q V A S p.240
. . . . . . g.7888
GGGCACCTCCCCTGCATCGTGAGAAGAACTTCAAAAGAAGCCTGTCAGCAGGCTGGCTGC c.780
G H L P C I V R R T S K E A C Q Q A G C p.260
. . . . | 05 . . g.8429
TGCTATGACAACACCAGAGAGGTTCCCTGTTACTATGGCAACACAG | CTACTGTCCAGTGC c.840
C Y D N T R E V P C Y Y G N T A | T V Q C p.280
. . . . . . g.8489
TTCAGAGATGGCTACTTCGTCCTCGTAGTGTCCCAAGAAATGGCCTTGACACACAGGATC c.900
F R D G Y F V L V V S Q E M A L T H R I p.300
. . . . . . g.8549
ACACTGGCCAACATCCACCTGGCCTATGCCCCCACCAGCTGCTCCCCAACACAGCACACG c.960
T L A N I H L A Y A P T S C S P T Q H T p.320
. . . . . | 06 . g.8681
GAAGCTTTCGTGGTCTTCTACTTCCCTCTCACCCACTGTGGAACCACAATGCAG | GTGGCT c.1020
E A F V V F Y F P L T H C G T T M Q | V A p.340
. . . . . . g.8741
GGCGACCAGCTCATCTATGAGAACTGGCTGGTGTCTGGCATCCACATCCAAAAGGGGCCA c.1080
G D Q L I Y E N W L V S G I H I Q K G P p.360
. . . | 07 . . . g.10648
CAGGGTTCCATCACGCGGGACAGCACCTTCCA | GCTTCATGTGCGCTGTGTCTTCAACGCC c.1140
Q G S I T R D S T F Q | L H V R C V F N A p.380
. . . . . . g.10708
AGTGACTTCCTGCCCATTCAGGCATCCATTTTCCCACCCCCATCGCCTGCTCCTATGACC c.1200
S D F L P I Q A S I F P P P S P A P M T p.400
. . . . | 08 . . g.10853
CAGCCCGGCCCCCTGCGGCTTGAGCTGCGGATTGCCAAAG | ACGAGACCTTCAGCTCGTAC c.1260
Q P G P L R L E L R I A K D | E T F S S Y p.420
. . . . . . g.10913
TATGGGGAGGATGACTATCCCATCGTGAGGCTGCTCCGAGAACCAGTCCATGTGGAGGTC c.1320
Y G E D D Y P I V R L L R E P V H V E V p.440
. . . . . . g.10973
CGGCTTCTGCAGAGGACAGACCCCAACCTGGTCCTGCTGCTGCACCAGTGCTGGGGCGCT c.1380
R L L Q R T D P N L V L L L H Q C W G A p.460
. . . . . | 09 . g.11102
CCCAGTGCCAACCCCTTCCAGCAGCCCCAGTGGCCCATCCTGTCAGACGG | ATGCCCTTTC c.1440
P S A N P F Q Q P Q W P I L S D G | C P F p.480
. . . . . . g.11162
AAGGGCGACAGCTACAGAACCCAAATGGTAGCCTTGGACGGGGCCACACCTTTCCAGTCG c.1500
K G D S Y R T Q M V A L D G A T P F Q S p.500
. . . . . . g.11222
CACTACCAGCGATTCACTGTTGCTACCTTCGCCCTCCTGGACTCAGGCTCCCAGAGAGCC c.1560
H Y Q R F T V A T F A L L D S G S Q R A p.520
. | 10 . . . . . g.12439
CTCAGAGGACTG | GTTTACTTGTTCTGCAGCACCTCTGCCTGCCACACCTCAGGGCTGGAG c.1620
L R G L | V Y L F C S T S A C H T S G L E p.540
. . . | 11 . . . g.12613
ACTTGCTCCACTGCATGTAGCACTGGCACTACAA | GACAGCGACGATCCTCAGGTCACCGT c.1680
T C S T A C S T G T T R | Q R R S S G H R p.560
. . . . . . g.12673
AATGACACTGCCAGGCCCCAGGACATCGTGAGCTCTCCGGGGCCAGTGGGCTTTGAGGAT c.1740
N D T A R P Q D I V S S P G P V G F E D p.580
. . . | 12 . . . g.12998
TCTTATGGGCAGGAGCCCACACTTGGGCCCACAG | ACTCCAATGGGAACTCCAGCCTGAGA c.1800
S Y G Q E P T L G P T D | S N G N S S L R p.600
. . . . . . g.13058
CCTCTCCTTTGGGCGGTCCTTTTGCTGCCAGCTGTTGCCCTGGTCCTTGGGTTTGGTGTC c.1860
P L L W A V L L L P A V A L V L G F G V p.620
. . . . . g.13115
TTTGTGGGCCTGAGCCAGACCTGGGCCCAGAAGCTCTGGGAAAGCAACAGACAGTGA c.1917
F V G L S Q T W A Q K L W E S N R Q X p.638
. . . g.13150
atgggcccaataaacaatcatttcaaacctactga c.*35
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21
©2004-2018 Leiden University Medical Center