UniProtKB/Swiss-Prot P16112: Variant p.Pro913Thr

Aggrecan core protein
Gene: ACAN
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Variant information Variant position:

913 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 Proline (P) to Threonine (T) at position 913 (P913T, p.Pro913Thr). 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 medium size and hydrophobic (P) to medium size and polar (T) 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 rs35430524 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

2530 The length of the canonical sequence.
Location on the sequence:

GLPSGDLDSSGLTSTVGSGL P VESGLPSGDEERIEWPSTPT 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                         GLPSGDLDSSGLTSTVGSGLPVESGLPSGDEERIEWPSTPT

                              GLPSEDLDSSGLTSAVG------SGLASGDEDRITLSSIPK

Mouse                         GLPSGDLDSSGLSPTVSSGLPVESGSASGDGE-VPWSHTPT

Rat                           GLPSGDLDSSGLGPTVSSGLPVESGSASGDGE-IPWSSTPT

Bovine                        GLPSEDLDSSGLTSTVGSGLPVESGLPSGEEERITWTSAPK

Chicken                       GLPSVDLQSSGF-------VPGESGLPSGDV----------

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	17 – 2530	Aggrecan core protein
Chain	393 – 2530	Aggrecan core protein 2
Region	734 – 979	Disordered
Region	852 – 1612	CS-1
Compositional bias	898 – 913	Polar residues

Literature citations
Complete coding sequence and deduced primary structure of the human cartilage large aggregating proteoglycan, aggrecan. Human-specific repeats, and additional alternatively spliced forms.
Doege K.J.; Sasaki M.; Kimura T.; Yamada Y.;
J. Biol. Chem. 266:894-902(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); VARIANTS THR-913 AND VAL-1765;

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.