Variant position: 3750 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 VLLPYVHGNQS-----------SPELGPPRL RQVRLQE-ALYPDPPGPRVHTC
Mouse VFLPYVHGNQS-----------SPELGPPRL RQVRLQE-AF
Caenorhabditis elegans LLASWYDGNPAYGMRAYMNDKVSRSMGIGTI RQVRTKKSAE
Slime mold ------------------------------- ---------L
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 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;
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.