Variant position: 2826 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 FSIPEAFSGALANLSDVVQL IFLVDSNPFPFGYISNYTVST
Mouse FSIPEAFSGALSNLSDVVQL IFLVDSNPFPFGYISNYTVST
Caenorhabditis elegans FDMLITSGALEAHIKDENQI IIPITGTTAPI-YVNGRGSED
Slime mold -----------EHVNNEINI MLNISH---------------
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.
An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.
Watnick T.J.; Piontek K.B.; Cordal T.M.; Weber H.; Gandolph M.A.; Qian F.; Lens X.M.; Neumann H.P.H.; Germino G.G.;
Hum. Mol. Genet. 6:1473-1481(1997)
Cited for: VARIANTS PKD1 VAL-2763; THR-2826 AND LEU-3008; VARIANTS THR-2760; PRO-2761; THR-2764; GLN-2791 AND LEU-3066;
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.