UniProtKB/SwissProt variant VAR

Polycystin-1
Gene: PKD1
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Variant information Variant position:

324
Type of variant:

LB/B
Residue change:

From Arginine (R) to Leucine (L) at position 324 (R324L, p.Arg324Leu).
Physico-chemical properties:

Change from large size and basic (R) to medium size and hydrophobic (L)
BLOSUM score:

-2
Variant description:

In PKD1; likely benign.
Other resources:

Variant rs199476099 [ dbSNP | Ensembl ]

Sequence information Variant position:

324
Protein sequence length:

4303
Location on the sequence:

RWDFGDGSAEVDAAGPAASH R YVLPGRYHVTAVLALGAGSA
Residue conservation:

Human                         RWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSA

Mouse                         RWNFGDGSPEVDMASPAATHFYVLPGSYHMTVVLALGAGSA

Caenorhabditis elegans        RMKRDAGDNTCDYTIESTSTSTTTPTTTTVTSTV---TSTT

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

Sequence annotation in neighborhood:

Type	Positions	Description
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;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P98161: Variant p.Arg324Leu