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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P98161: Variant p.Arg324Leu

Polycystin-1
Gene: PKD1
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Variant information Variant position: help 324
Type of variant: help LB/B
Residue change: help From Arginine (R) to Leucine (L) at position 324 (R324L, p.Arg324Leu).
Physico-chemical properties: help Change from large size and basic (R) to medium size and hydrophobic (L)
BLOSUM score: help -2
Variant description: help In PKD1; likely benign.
Other resources: help


Sequence information Variant position: help 324
Protein sequence length: help 4303
Location on the sequence: help RWDFGDGSAEVDAAGPAASH R YVLPGRYHVTAVLALGAGSA
Residue conservation: help
Human                         RWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSA

Mouse                         RWNFGDGSPEVDMASPAATHFYVLPGSYHMTVVLALGAGSA

Caenorhabditis elegans        RMKRDAGDNTCDYTIESTSTSTTTPTTTTVTSTV---TSTT

Slime mold                    --NSNNGNN--------------------------------

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 4303 Polycystin-1
Topological domain 24 – 3074 Extracellular
Domain 272 – 359 PKD 1
Beta strand 320 – 325



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;
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.