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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P98161: Variant p.Cys436Arg

Polycystin-1
Gene: PKD1
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Variant information Variant position: help 436
Type of variant: help US
Residue change: help From Cysteine (C) to Arginine (R) at position 436 (C436R, p.Cys436Arg).
Physico-chemical properties: help Change from medium size and polar (C) to large size and basic (R)
BLOSUM score: help -3
Variant description: help In PKD1; uncertain significance.
Other resources: help


Sequence information Variant position: help 436
Protein sequence length: help 4303
Location on the sequence: help NGHCYRLVVEKAAWLQAQEQ C QAWAGAALAMVDSPAVQRFL
Residue conservation: help 
Human                         NGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFL

Mouse                         NGHCYRLVAEKAPWLQAQEQCRTWAGAALAMVDSPAIQHFL

Caenorhabditis elegans        --------------------------TSIPTTTTPEITSTL

Slime mold                    -----------------------------------------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 4303 Polycystin-1
Topological domain 24 – 3074 Extracellular
Domain 415 – 531 C-type lectin
Disulfide bond 436 – 530



Literature citations
Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
Hoefele J.; Mayer K.; Scholz M.; Klein H.G.;
Nephrol. Dial. Transplant. 26:2181-2188(2011)
Cited for: VARIANTS PKD1 GLY-97; ARG-436; PRO-442; ARG-727; PRO-727; ASP-2391; TRP-2434; TYR-2546; CYS-2569; THR-2646; ARG-2889; PRO-3154; ARG-3603 AND GLN-3750;
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.