Variant position: 3852 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 DRLRFLQLHNWLDNRSRAVF LELTRYSPAVGLHAAVTLRLE
Mouse ARLGFLQLHNWLDSRSRAVF VELTRYSPAVGLHAAVTLRLE
Caenorhabditis elegans TLFNKLDSERWIDDHTRAVI IEFSAYNAQINYFSVVQLLVE
Slime mold -----IRNHKWFSD------ ---------------------
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
3845 – 3845 N-linked (GlcNAc...) asparagine
Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes.
Aguiari G.; Savelli S.; Garbo M.; Bozza A.; Augello G.; Penolazzi L.; De Paoli Vitali E.; La Torre C.; Cappelli G.; Piva R.; del Senno L.;
Hum. Mutat. 16:444-445(2000)
Cited for: VARIANTS PKD1 GLN-3719 AND PRO-3852; VARIANT VAL-4045;
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;
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.