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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P98161: Variant p.Leu845Ser

Polycystin-1
Gene: PKD1
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Variant information Variant position: help 845
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Serine (S) at position 845 (L845S, p.Leu845Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to small size and polar (S)
BLOSUM score: help -2
Variant description: help In PKD1.
Other resources: help


Sequence information Variant position: help 845
Protein sequence length: help 4303
Location on the sequence: help RVIYPAPRDGRLYVPTNGSA L VLQVDSGANATATARWPGGS
Residue conservation: help
Human                         RVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGS

Mouse                         RVIHPIPLDGHIYVPTNGSVLVLQVDSGANATATAQWFGGN

Caenorhabditis elegans        ----------NVYIQEYSSTT---IESESSTSAVASSTSST

Slime mold                    ----------DIIMREFNEPI---FDYNQNSSEINKSLVKT

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 4303 Polycystin-1
Topological domain 24 – 3074 Extracellular
Glycosylation 841 – 841 N-linked (GlcNAc...) asparagine
Glycosylation 854 – 854 N-linked (GlcNAc...) asparagine



Literature citations
Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.
Thomas R.L.; McConnell R.; Whittacker J.; Kirkpatrick P.; Bradley J.; Sandford R.;
Am. J. Hum. Genet. 65:39-49(1999)
Cited for: VARIANTS PKD1 LEU-324 AND SER-845; VARIANTS ARG-1399 AND LEU-1786; Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
Peltola P.; Lumiaho A.; Miettinen R.; Pihlajamaeki J.; Sandford R.; Laakso M.;
J. Mol. Med. 83:638-646(2005)
Cited for: VARIANTS PKD1 SER-845; MET-3138 AND PRO-3954; VARIANTS HIS-36; ARG-2638; LEU-3066; MET-3510; VAL-3512; VAL-4045 AND VAL-4059;
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.