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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08F94: Variant p.Ser2219Leu

Fibrocystin
Gene: PKHD1
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Variant information Variant position: help 2219
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Leucine (L) at position 2219 (S2219L, p.Ser2219Leu).
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 PKD4.


Sequence information Variant position: help 2219
Protein sequence length: help 4074
Location on the sequence: help VQLKGVQFQVLGQAFHKHLS S LTLVGAMRESFIQGCTVRNS
Residue conservation: help 
Human                         VQLKGVQFQVLGQAFHKHLSSLTLVGAMRESFIQGCTVRNS

Mouse                         VKLKGVQFRDLGQAFHKHLSSLALVGAMRGSYIQSCSVWNS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 4074 Fibrocystin
Topological domain 24 – 3858 Extracellular



Literature citations
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M.; Tuchman M.; Font-Montgomery E.; Lukose L.; Edwards H.; Garcia A.; Ausavarat S.; Ziegler S.G.; Piwnica-Worms K.; Bryant J.; Bernardini I.; Fischer R.; Huizing M.; Guay-Woodford L.; Gahl W.A.;
Mol. Genet. Metab. 99:160-173(2010)
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957; VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219;
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.