UniProtKB/SwissProt variant VAR

Polycystin-1
Gene: PKD1
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Variant information Variant position:

845
Type of variant:

LP/P [Disclaimer]
Residue change:

From Leucine (L) to Serine (S) at position 845 (L845S, p.Leu845Ser).
Physico-chemical properties:

Change from medium size and hydrophobic (L) to small size and polar (S)
BLOSUM score:

-2
Variant description:

In PKD1.
Other resources:

Variant rs199476100 [ dbSNP | Ensembl ]

Sequence information Variant position:

845
Protein sequence length:

4303
Location on the sequence:

RVIYPAPRDGRLYVPTNGSA L VLQVDSGANATATARWPGGS
Residue conservation:

Human                         RVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGS

Mouse                         RVIHPIPLDGHIYVPTNGSVLVLQVDSGANATATAQWFGGN

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

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

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P98161: Variant p.Leu845Ser