Variant position: 2993 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 HRPYTFFISPG-------SRDPAGSYH LNLSSHFRWS-----ALQVSVGLYTS
Mouse HRLYTFFIAPG-------TGTLDRSYY LNLTSHFHWS----
Caenorhabditis elegans -----FFIGIGKRNSSTNTGNSSDIVN YGQYDSMQWSFARS
Slime mold --------------------------- --------------
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
2994 – 2994 N-linked (GlcNAc...) asparagine
Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.
Qian F.; Boletta A.; Bhunia A.K.; Xu H.; Liu L.; Ahrabi A.K.; Watnick T.J.; Zhou F.; Germino G.G.;
Proc. Natl. Acad. Sci. U.S.A. 99:16981-16986(2002)
Cited for: FUNCTION IN RENAL TUBULOGENESIS; AUTOCATALYTIC CLEAVAGE AT LEU-3048; CHARACTERIZATION OF VARIANTS PKD1 LYS-2771; PRO-2921; PRO-2993 AND ARG-3016; CHARACTERIZATION OF VARIANT GLN-2791;
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.
Peral B.; Gamble V.; Strong C.; Ong A.C.M.; Sloane-Stanley J.; Zerres K.; Winearls C.G.; Harris P.C.;
Am. J. Hum. Genet. 60:1399-1410(1997)
Cited for: VARIANTS PKD1 PRO-2993; ARG-3016 AND VAL-3511; VARIANTS MET-3510 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.