UniProtKB/Swiss-Prot Q5KU26: Variant p.Ser522Pro

Collectin-12
Gene: COLEC12
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Variant information Variant position:

522 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Serine (S) to Proline (P) at position 522 (S522P, p.Ser522Pro). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from small size and polar (S) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs2305025 [ dbSNP | Ensembl ]

Sequence information Variant position:

522 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

742 The length of the canonical sequence.
Location on the sequence:

KGSQGPKGSRGSPGKPGPQG S SGDPGPPGPPGKEGLPGPQG 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                         KGSQGPKGSRGSPGKPGPQGSSGDPGPPGPPGKEGLPGPQG

Mouse                         KGSQGPKGSRGSPGKPGPQGPSGDPGPPGPPGKDGLPGPQG

Rat                           KGSQGPKGSRGSPGKPGPQGPSGDPGPPGPPGKDGLPGPQG

Bovine                        KGLQGSKGSRGSPGKPGPQGPSGDPGPPGPPGKDGLPGPQG

Chicken                       RGSPGSKGQRGSPGKTGLPGPSGDPGPPGPQGKDGPQGPQG

Zebrafish                     RGSPGPKGSRGSGGRQGPSGEKGDPGIPGMPGRDGQPGPTG

Caenorhabditis elegans        SGAPGAPGQSGGAALPGPPGPAGPPGPAGQPGSNGNAGAPG

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
Chain	1 – 742	Collectin-12
Topological domain	59 – 742	Extracellular
Domain	473 – 529	Collagen-like 2
Region	439 – 608	Disordered
Compositional bias	521 – 539	Pro residues

Literature citations
Molecular cloning and functional characterization of a human scavenger receptor with C-type lectin (SRCL), a novel member of a scavenger receptor family.
Nakamura K.; Funakoshi H.; Miyamoto K.; Tokunaga F.; Nakamura T.;
Biochem. Biophys. Res. Commun. 280:1028-1035(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANTS PRO-522 AND SER-606; The membrane-type collectin CL-P1 is a scavenger receptor on vascular endothelial cells.
Ohtani K.; Suzuki Y.; Eda S.; Kawai T.; Kase T.; Keshi H.; Sakai Y.; Fukuoh A.; Sakamoto T.; Itabe H.; Suzutani T.; Ogasawara M.; Yoshida I.; Wakamiya N.;
J. Biol. Chem. 276:44222-44228(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; TISSUE SPECIFICITY; VARIANT PRO-522; SRCL/CL-P1 recognizes GalNAc and a carcinoma-associated antigen, Tn antigen.
Yoshida T.; Tsuruta Y.; Iwasaki M.; Yamane S.; Ochi T.; Suzuki R.;
J. Biochem. 133:271-277(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; TISSUE SPECIFICITY; VARIANT PRO-522; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS GLU-91; PRO-522 AND SER-606; Haplotype analysis of the human collectin placenta 1 (hCL-P1) gene.
Ohmori H.; Makita Y.; Funamizu M.; Chiba S.; Ohtani K.; Suzuki Y.; Wakamiya N.; Hata A.;
J. Hum. Genet. 48:82-85(2003)
Cited for: VARIANTS PRO-522 AND SER-606;

Disclaimer: 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.