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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P98161: Variant p.Gly2858Ser

Polycystin-1
Gene: PKD1
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Variant information Variant position: help 2858
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Serine (S) at position 2858 (G2858S, p.Gly2858Ser).
Physico-chemical properties: help Change from glycine (G) to small size and polar (S)
BLOSUM score: help 0
Variant description: help In PKD1; associated in cis with M-2768.
Other resources: help


Sequence information Variant position: help 2858
Protein sequence length: help 4303
Location on the sequence: help YISNYTVSTKVASMAFQTQA G AQIPIERLASERAITVKVPN
Residue conservation: help 
Human                         YISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPN

Mouse                         YISNYTVSTKVASMAFQTQTGTQIPIEQLAAERAITVKVPN

Caenorhabditis elegans        VNGRGSEDDAVLTLMQQGD---------FASYQILDLHAFR

Slime mold                    -----------------------------------------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 4303 Polycystin-1
Topological domain 24 – 3074 Extracellular
Glycosylation 2841 – 2841 N-linked (GlcNAc...) asparagine
Glycosylation 2878 – 2878 N-linked (GlcNAc...) asparagine



Literature citations
Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.
Rossetti S.; Strmecki L.; Gamble V.; Burton S.; Sneddon V.; Peral B.; Roy S.; Bakkaloglu A.; Komel R.; Winearls C.G.; Harris P.C.;
Am. J. Hum. Genet. 68:46-63(2001)
Cited for: VARIANTS PKD1 GLN-13; PHE-75; CYS-139; 1992-PHE-THR-1993 DELINS LEU; 2220-ARG--PRO-2224 DEL; ASP-2336; ASP-2752; ILE-LEU-MET-ARG-2765 INS; MET-2768; LYS-2771; PRO-2816; SER-2858; 3012-THR--TYR-3017 DEL AND 3748-LEU--ARG-3752 DEL; VARIANTS SER-2674; MET-2708; THR-2734; LEU-2735; CYS-2765; MET-2782; ARG-2814; GLY-2888; ILE-2905; ASP-2966 AND LEU-3066;
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.