Variant position: 4154 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 LRRLRLWMGLSKVKEFRHKV RFEGMEPLPSRSSRGSKVSPD
Mouse LRRLRLWMGFSKVKEFRHKV RFEGMDPLPSRSSRGSKSSPV
Caenorhabditis elegans KYKTKRRLGLLEPKDF---- ------------------APV
Slime mold NFQFN--------------- ---------------------
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
4111 – 4303 Cytoplasmic
4166 – 4166 Phosphoserine; by PRKX; in vitro
DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.
Perrichot R.A.; Mercier B.; Simon P.M.; Whebe B.; Cledes J.; Ferec C.;
Hum. Genet. 105:231-239(1999)
Cited for: VARIANTS PKD1 LEU-LEU-PHE-3996 INS; GLY-4136 AND CYS-4154; VARIANTS;
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.