UniProtKB/Swiss-Prot Q9BZV3: Variant p.Thr674Ile

Interphotoreceptor matrix proteoglycan 2
Gene: IMPG2
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Variant information Variant position:

674 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 Threonine (T) to Isoleucine (I) at position 674 (T674I, p.Thr674Ile). 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 polar (T) to medium size and hydrophobic (I) 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 rs571391 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1241 The length of the canonical sequence.
Location on the sequence:

KMDSTDQISKHSKYEHDDRS T HFPEEEPLSGPAVPIFADTA 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                         KMDSTDQISKHSKYEHDDRSTHFPEEEPLSGPAVPIFADTA

Mouse                         RVDSTEQIIESSEHRYGDRPIHFIEEESHVRSTIPIFVESA

Rat                           ----TEQMIEPSAHRYGDGPIYFTEEESHVRSTIPIFAESA

Chicken                       ILNSGNKLDDDPSKDENEG-VASIKENFLDESEIFVFPETT

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	23 – 1241	Interphotoreceptor matrix proteoglycan 2
Topological domain	23 – 1099	Extracellular
Region	660 – 684	Disordered
Compositional bias	660 – 678	Basic and acidic residues

Literature citations
Molecular characterization and genomic mapping of human IPM 200, a second member of a novel family of proteoglycans.
Kuehn M.H.; Hageman G.S.;
Mol. Cell Biol. Res. Commun. 2:103-110(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; TISSUE SPECIFICITY; VARIANT ILE-674; SPACRCAN, a novel human interphotoreceptor matrix hyaluronan-binding proteoglycan synthesized by photoreceptors and pinealocytes.
Acharya S.; Foletta V.C.; Lee J.W.; Rayborn M.E.; Rodriguez I.R.; Young W.S. III; Hollyfield J.G.;
J. Biol. Chem. 275:6945-6955(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PROTEIN SEQUENCE OF 82-86; 123-127 AND 582-593; IDENTIFICATION BY MASS SPECTROMETRY; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; GLYCOSYLATION; VARIANT ILE-674; Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders.
Kuehn M.H.; Stone E.M.; Hageman G.S.;
Invest. Ophthalmol. Vis. Sci. 42:3123-3129(2001)
Cited for: VARIANTS ILE-674 AND LEU-1013;

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.