Variant position: 59 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1184 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 NPSIFAKPADTLESPGEWTT WFNIDYPGGKGDYERLDAIRF
Mouse TPKTLAKPADSQESPGEWTT WFNIDHPGGQGDYERLDAIRF
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
22 – 1184 Cartilage intermediate layer protein 1
22 – 724 Cartilage intermediate layer protein 1 C1
Cloning and deduced amino acid sequence of a novel cartilage protein (CILP) identifies a proform including a nucleotide pyrophosphohydrolase.
Lorenzo P.; Neame P.; Sommarin Y.; Heinegaerd D.;
J. Biol. Chem. 273:23469-23475(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PROTEIN SEQUENCE OF 39-58; 282-291; 301-317; 332-338; 341-356; 361-365; 524-547; 575-594; 680-690 AND 698-707; GLYCOSYLATION AT ASN-346; PROTEOLYTIC PROCESSING; TISSUE SPECIFICITY; VARIANTS LEU-59; THR-395; GLU-575; ARG-979 AND SER-1166;
Genomic organization, mapping, and polymorphisms of the gene encoding human cartilage intermediate layer protein (CILP).
Nakamura I.; Okawa A.; Ikegawa S.; Takaoka K.; Nakamura Y.;
J. Hum. Genet. 44:203-205(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-59; PHE-327; THR-395; GLU-575; VAL-895; ARG-979; ASN-1101; SER-1166 AND ALA-1168;
The human CILP gene: exon/intron organization and chromosomal mapping.
Lorenzo P.; Aman P.; Sommarin Y.; Heinegaerd D.;
Matrix Biol. 18:445-454(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-59; THR-395; GLU-575; ARG-979 AND SER-1166;
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.