Variant position: 99 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 LRALD--VGLLANLSALAELDI SNN-KISTLEEGIFANLFNLSE
Mouse LQTLD--IGLLVNLSALVELDL SNN-RISTLEEGVFANLFN
Caenorhabditis elegans IQTETRLVGLFLNSTWITLNEV NDDDEISIAVEAKY-----
Slime mold ------MSAILNNYQYIPNNSL NSN----------------
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
24 – 3074 Extracellular
92 – 113 LRR 2
89 – 89 N-linked (GlcNAc...) asparagine
116 – 116 N-linked (GlcNAc...) asparagine
The polycystin complex mediates Wnt/Ca(2+) signalling.
Kim S.; Nie H.; Nesin V.; Tran U.; Outeda P.; Bai C.X.; Keeling J.; Maskey D.; Watnick T.; Wessely O.; Tsiokas L.;
Nat. Cell Biol. 18:752-764(2016)
Cited for: FUNCTION; INTERACTION WITH DVL1; DVL2; WNT3A; WNT4; WNT5A AND WNT9B; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT ILE-99;
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;
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.