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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08F94: Variant p.Trp656Cys

Fibrocystin
Gene: PKHD1
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Variant information Variant position: help 656
Type of variant: help LP/P [Disclaimer]
Residue change: help From Tryptophan (W) to Cysteine (C) at position 656 (W656C, p.Trp656Cys).
Physico-chemical properties: help Change from large size and aromatic (W) to medium size and polar (C)
BLOSUM score: help -2
Variant description: help In PKD4.
Other resources: help


Sequence information Variant position: help 656
Protein sequence length: help 4074
Location on the sequence: help QNMVKNTTCDWSLTRTSPES W QFDCTDLWETCVRCFGDLQP
Residue conservation: help 
Human                         QNMVKNTTCDWSLTRTSPESWQFDCTDLWETCVRCFGDLQP

Mouse                         QTIMKNITCDWSLTDPHPESWQFTCINLWDTCLCHSEDIQS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 4074 Fibrocystin
Topological domain 24 – 3858 Extracellular
Glycosylation 641 – 641 N-linked (GlcNAc...) asparagine



Literature citations
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
Bergmann C.; Senderek J.; Sedlacek B.; Pegiazoglou I.; Puglia P.; Eggermann T.; Rudnik-Schoeneborn S.; Furu L.; Onuchic L.F.; De Baca M.; Germino G.G.; Guay-Woodford L.; Somlo S.; Moser M.; Buettner R.; Zerres K.;
J. Am. Soc. Nephrol. 14:76-89(2003)
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553; VARIANTS MET-579; SER-830 AND TYR-3139;
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.