Variant position: 489 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 608 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 SYFNPSNI-KEGMPITLTIRL ISGIQLPLTH-SSSNKGDSLVI
Mouse LGFNPNEPEYDDHPVTLTIRI ISGIQLPVS--SSSNTPDIV
Rat LGFNPNEPEGDGHPVTLTIRL ISGIQLPVN--VPSNTSDII
Pig SIFNPNKAPINSNPITLTIRL ISGIQLPPSYHSSSNKADTL
Bovine TKFNPHKVQIDSNPLTLTIRL ISGIQLPPSY---QNKADTL
Chicken STFNPHNVGRYSNPLSLSIRL ISGHQLPPSNLSKSNKADPL
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
1 – 608 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1
465 – 589 C2
Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.
Escoffier J.; Lee H.C.; Yassine S.; Zouari R.; Martinez G.; Karaouzene T.; Coutton C.; Kherraf Z.E.; Halouani L.; Triki C.; Nef S.; Thierry-Mieg N.; Savinov S.N.; Fissore R.; Ray P.F.; Arnoult C.;
Hum. Mol. Genet. 25:878-891(2016)
Cited for: FUNCTION; TISSUE SPECIFICITY; INVOLVEMENT IN SPGF17; VARIANT SPGF17 PHE-489; CHARACTERIZATION OF VARIANT SPGF17 PHE-489;
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.