Variant position: 3375 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 PSPTPAGQQVLDIDSCLDSS VLDSSFLTFSGLHAEQAFVGQ
Mouse QNPTPTGQQALDVDSYLDPS VLDSSLLTLSGL--TEAFAGQ
Caenorhabditis elegans KSVSEFTFTIKDIAFGVGFG VLITFLNSLHILLCTKC---R
Slime mold NTSSVCGTF-----DYMAPE ILNSS----------------
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
3345 – 3559 Cytoplasmic
3390 – 3390 Missing. In isoform 2 and isoform 3.
Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.
Koptides M.; Constantinides R.; Kyriakides G.; Hadjigavriel M.; Patsalis P.C.; Pierides A.; Deltas C.C.;
Hum. Genet. 103:709-717(1998)
Cited for: VARIANT PKD1 MET-3375;
Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.
Koptides M.; Mean R.; Demetriou K.; Constantinides R.; Pierides A.; Harris P.C.; Deltas C.C.;
Hum. Mutat. 16:176-176(2000)
Cited for: VARIANTS PKD1 PRO-2921 AND MET-3375; VARIANT LEU-3066;
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