Variant position: 3753 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4303 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human PYVHGNQS-----------SPELGPPRLRQV RLQE-ALYPDPPGPRVHTCSAA
Mouse PYVHGNQS-----------SPELGPPRLRQV RLQE-AFCPD
Caenorhabditis elegans SWYDGNPAYGMRAYMNDKVSRSMGIGTIRQV RTKKSAECTM
Slime mold ------------------------------- ------LSVD
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
24 – 4303 Polycystin-1
3687 – 3901 Extracellular
3738 – 3738 N-linked (GlcNAc...) asparagine
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;
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.