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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P98161: Variant p.Ala4059Val

Polycystin-1
Gene: PKD1
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Variant information Variant position: help 4059
Type of variant: help LB/B
Residue change: help From Alanine (A) to Valine (V) at position 4059 (A4059V, p.Ala4059Val).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 4059
Protein sequence length: help 4303
Location on the sequence: help AYAQLAILLVSSCVDSLWSV A QALLVLCPGTGLSTLCPAES
Residue conservation: help 
Human                         AYAQLAILLVSSCVDSLWSVAQALLVLCPGT----GLSTLCPAES

Mouse                         AYAQMAILLISSGADTLYNMARAFLVLCPGA----RVPTLC

Caenorhabditis elegans        TFNSVLYAVLGNKMGGYRSLMATFQTALAGMLGKLDVTSIQ

Slime mold                    -----------------------------------------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 4303 Polycystin-1
Topological domain 4049 – 4090 Extracellular



Literature citations
A complete mutation screen of the ADPKD genes by DHPLC.
Rossetti S.; Chauveau D.; Walker D.; Saggar-Malik A.; Winearls C.G.; Torres V.E.; Harris P.C.;
Kidney Int. 61:1588-1599(2002)
Cited for: VARIANTS PKD1 TRP-1340; LYS-1811; CYS-2092; ILE-2260 DEL; PHE-3167 AND PRO-3852; VARIANTS LEU-61; SER-572; THR-1092; SER-1168; ARG-1399; LEU-1684; ILE-1943; ARG-2638; SER-2674; MET-2708; ARG-2814; LEU-2958; ASN-2977; MET-3057; GLN-3435; VAL-3512; VAL-4045; VAL-4059; SER-4124; ILE-4146 AND PHE-4190; Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease.
Ding L.; Zhang S.; Qiu W.; Xiao C.; Wu S.; Zhang G.; Cheng L.; Zhang S.;
Nephrol. Dial. Transplant. 17:75-80(2002)
Cited for: VARIANTS PKD1 ASP-3632; LEU-3649 AND THR-3678; VARIANTS VAL-4045; VAL-4059; GLU-4102; PRO-4106 AND ILE-4146; 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; Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
Tan Y.-C.; Blumenfeld J.D.; Anghel R.; Donahue S.; Belenkaya R.; Balina M.; Parker T.; Levine D.; Leonard D.G.B.; Rennert H.;
Hum. Mutat. 30:264-273(2009)
Cited for: VARIANTS PKD1 LEU-61; ILE-99; TYR-594; MET-1242; CYS-2200; LYS-2422; ARG-2638; LEU-3066; SER-3726 AND VAL-4155; VARIANTS HIS-36; GLN-739; THR-1092; ARG-1399; THR-1516; THR-1871; VAL-1926; ASP-1952; MET-2708; ARG-2814; 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.