UniProtKB/Swiss-Prot O75581: Variant p.Arg1026His

Low-density lipoprotein receptor-related protein 6
Gene: LRP6
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Variant information Variant position:

1026 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Arginine (R) to Histidine (H) at position 1026 (R1026H, p.Arg1026His). 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 large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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
Variant description:

In EVR8; uncertain significance; decreased function in Wnt signaling. Any additional useful information about the variant.

Sequence information Variant position:

1026 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1613 The length of the canonical sequence.
Location on the sequence:

SVPSQNLEIQPYDLSIDIYS R YIYWTCEATNVINVTRLDGR 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                         SVPSQNLEIQPYDLSIDIYSRYIYWTCEATNVINVTRLDGR

Mouse                         SVANQNLEIQPYDLSIDIYSRYIYWTCEATNVIDVTRLDGR

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	20 – 1613	Low-density lipoprotein receptor-related protein 6
Topological domain	20 – 1370	Extracellular
Repeat	1026 – 1068	LDL-receptor class B 17
Region	933 – 1202	Beta-propeller 4
Glycosylation	1039 – 1039	N-linked (GlcNAc...) asparagine
Turn	1023 – 1026

Literature citations
Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy.
Li S.; Yang M.; He Y.; Jiang X.; Zhao R.; Liu W.; Huang L.; Shi Y.; Li X.; Sun K.; Yang Y.; Sundaresan P.; Zhao P.; Yang Z.; Zhu X.;
J. Genet. Genomics 49:590-594(2022)
Cited for: VARIANTS EVR8 ALA-743; HIS-1026 AND GLU-1309; CHARACTERIZATION OF VARIANTS EVR8 ALA-743; HIS-1026 AND GLU-1309; FUNCTION; INVOLVEMENT IN EVR8;

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.