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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08F94: Variant p.Ile3468Val

Fibrocystin
Gene: PKHD1
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Variant information Variant position: help 3468
Type of variant: help LP/P [Disclaimer]
Residue change: help From Isoleucine (I) to Valine (V) at position 3468 (I3468V, p.Ile3468Val).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Variant description: help In PKD4.
Other resources: help


Sequence information Variant position: help 3468
Protein sequence length: help 4074
Location on the sequence: help IPCSTSGSVSTFYSILPIRQ I TKVCFMDQTPQVLRFFLLGN
Residue conservation: help 
Human                         IPCSTSGSVSTFYSILPIRQITKVCFMDQTPQVLRFFLLGN

Mouse                         DLCPPTSSLSTFYSILPTRQMTKVCFPEQTPPFLRFLLLGN
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 4074 Fibrocystin
Topological domain 24 – 3858 Extracellular
Glycosylation 3488 – 3488 N-linked (GlcNAc...) asparagine
Alternative sequence 3397 – 4074 Missing. In isoform 2.



Literature citations
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
Rossetti S.; Torra R.; Coto E.; Consugar M.; Kubly V.; Malaga S.; Navarro M.; El-Youssef M.; Torres V.E.; Harris P.C.;
Kidney Int. 64:391-403(2003)
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622; VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048;
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.