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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P98161: Variant p.Arg3753Trp

Polycystin-1
Gene: PKD1
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Variant information Variant position: help 3753
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Tryptophan (W) at position 3753 (R3753W, p.Arg3753Trp).
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score: help -3
Variant description: help In PKD1.
Other resources: help


Sequence information Variant position: help 3753
Protein sequence length: help 4303
Location on the sequence: help PYVHGNQSSPELGPPRLRQV R LQEALYPDPPGPRVHTCSAA
Residue conservation: help 
Human                         PYVHGNQS-----------SPELGPPRLRQVRLQEALYPDPPGPRVHTCSAA

Mouse                         PYVHGNQS-----------SPELGPPRLRQVRLQEA-FCPD

Caenorhabditis elegans        SWYDGNPAYGMRAYMNDKVSRSMGIGTIRQVRTKKSAECTM

Slime mold                    -----------------------------------------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 4303 Polycystin-1
Topological domain 3687 – 3901 Extracellular
Glycosylation 3738 – 3738 N-linked (GlcNAc...) asparagine



Literature citations
Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
Kim U.K.; Jin D.K.; Ahn C.; Shin J.H.; Lee K.B.; Kim S.H.; Chae J.J.; Hwang D.Y.; Lee J.G.; Namkoong Y.; Lee C.C.;
Mutat. Res. 432:39-45(2000)
Cited for: VARIANTS PKD1 TRP-3753 AND ASN-3815; Mutational analysis within the 3' region of the PKD1 gene in Japanese families.
Tsuchiya K.; Komeda M.; Takahashi M.; Yamashita N.; Cigira M.; Suzuki T.; Suzuki K.; Nihei H.; Mochizuki T.;
Mutat. Res. 458:77-84(2001)
Cited for: VARIANTS PKD1 ARG-3560; GLN-3719 AND TRP-3753; VARIANT MET-3510; Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
Audrezet M.P.; Gall E.C.; Chen J.M.; Redon S.; Quere I.; Creff J.; Benech C.; Maestri S.; Meur Y.L.; Ferec C.;
Hum. Mutat. 33:1239-1250(2012)
Cited for: VARIANTS PKD1 CYS-325; TRP-611; ASP-698; PRO-727; GLY-1206; CYS-2379; CYS-2767; LYS-2771; ARG-2995; SER-3651; GLN-3750; TRP-3753; CYS-4150 AND TRP-4276;
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.