Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9P212: Variant p.Ser1484Leu

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
Gene: PLCE1
Feedback?
Variant information Variant position: help 1484
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Leucine (L) at position 1484 (S1484L, p.Ser1484Leu).
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (L)
BLOSUM score: help -2
Variant description: help In NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis.
Other resources: help


Sequence information Variant position: help 1484
Protein sequence length: help 2302
Location on the sequence: help EVVEAIDRSAFINSDLPIII S IENHCSLPQQRKMAEIFKTV
Residue conservation: help 
Human                         EVVEAIDRSAFINSDLPIIISIENHCSLPQQRKMAEIFKTV

Mouse                         EVVEAIDRSAFITSDLPIIISIENHCSLPQQRKMAEIFKSV

Rat                           EVVEAIDRSAFITSDLPIIISIENHCSLPQQRKMAEIFKSV

Caenorhabditis elegans        QVVEIIKKSAFITSDLPVILSIENHCSLQQQAKMAQMFKTV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2302 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
Domain 1392 – 1540 PI-PLC X-box



Literature citations
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Hinkes B.; Wiggins R.C.; Gbadegesin R.; Vlangos C.N.; Seelow D.; Nuernberg G.; Garg P.; Verma R.; Chaib H.; Hoskins B.E.; Ashraf S.; Becker C.; Hennies H.C.; Goyal M.; Wharram B.L.; Schachter A.D.; Mudumana S.; Drummond I.; Kerjaschki D.; Waldherr R.; Dietrich A.; Ozaltin F.; Bakkaloglu A.; Cleper R.; Basel-Vanagaite L.; Pohl M.; Griebel M.; Tsygin A.N.; Soylu A.; Mueller D.; Sorli C.S.; Bunney T.D.; Katan M.; Liu J.; Attanasio M.; O'toole J.F.; Hasselbacher K.; Mucha B.; Otto E.A.; Airik R.; Kispert A.; Kelley G.G.; Smrcka A.V.; Gudermann T.; Holzman L.B.; Nuernberg P.; Hildebrandt F.;
Nat. Genet. 38:1397-1405(2006)
Cited for: VARIANT NPHS3 LEU-1484; FUNCTION; INTERACTION WITH IQGAP1;
Disclaimer: 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.