Variant position: 134 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 424 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human TFLLHDPRPVGNLSIVRTNR AEIPIECRYPRQGNVSSQAIL
Mouse TFLLHDPRPVSGLSILRTNR VEVPIECRYPRQGNVSSHPIQ
Rat TFLLHDPRPVNGLSILRTNR VEVPIECRYPRQGNVSSHPIQ
Pig TFLRHDPRPAGNLSILRTNR AEVPIECHYPRQGNVSSWAIL
Bovine TFLLHNPRPAGNLSILRTNR AEVPIECHYPRQGNVSSWAIQ
Cat TFLLHNPRPMGNLSILRTNR AEVPIECRYPRHSNVSSEAIL
Chicken TLINYDPSPASNPVIIRTNP AVIPIECHYPRRENVSSNAIR
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
23 – 350 Zona pellucida sperm-binding protein 3
23 – 387 Extracellular
45 – 307 ZP
125 – 125 N-linked (GlcNAc...) asparagine
147 – 147 N-linked (GlcNAc...) asparagine
46 – 140
A recurrent missense mutation in ZP3 causes empty follicle syndrome and female infertility.
Chen T.; Bian Y.; Liu X.; Zhao S.; Wu K.; Yan L.; Li M.; Yang Z.; Liu H.; Zhao H.; Chen Z.J.;
Am. J. Hum. Genet. 101:459-465(2017)
Cited for: INVOLVEMENT IN OOMD3; VARIANT OOMD3 THR-134; CHARACTERIZATION OF VARIANT OOMD3 THR-134; INTERACTION WITH ZP1 AND ZP2;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.