Variant position: 3632 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 ALYFSLVAKRLHPDEDDTLV ESPAVTPVSARVPRVRPPHGF
Mouse ALYFSLVAKRLHPDEDDTLV ESPAVTPVSERVPRVRPPHGF
Caenorhabditis elegans TRKSHKIINKL---EEALLR AKPAETFLRNPYGKIEKGLGT
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.
Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.
Peral B.; San Millan J.L.; Ong A.C.M.; Gamble V.; Ward C.J.; Strong C.; Harris P.C.;
Am. J. Hum. Genet. 58:86-96(1996)
Cited for: VARIANT PKD1 3748-ARG--VAL-3752 DEL; VARIANT ASP-3632;
Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease.
Ding L.; Zhang S.; Qiu W.; Xiao C.; Wu S.; Zhang G.; Cheng L.; Zhang S.;
Nephrol. Dial. Transplant. 17:75-80(2002)
Cited for: VARIANTS PKD1 ASP-3632; LEU-3649 AND THR-3678; VARIANTS VAL-4045; VAL-4059; GLU-4102; PRO-4106 AND ILE-4146;
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.