UniProtKB/Swiss-Prot P82279: Variant p.Arg764His

Protein crumbs homolog 1
Gene: CRB1
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Variant information Variant position:

764 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 764 (R764H, p.Arg764His). 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:

Found in a patient with early-onset retinal dystrophy; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs375040930 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1406 The length of the canonical sequence.
Location on the sequence:

RTLQPSGLLLALENSTYQYI R VWLERGRLAMLTPNSPKLVV 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                         RTLQPSGLLLALENSTYQYIRVWLERGRLAMLTPNSPKLVV

Mouse                         RTRQPLGLLLALENSTYQYVSVWLEHGSLALQTPGSPKFMV

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	26 – 1406	Protein crumbs homolog 1
Topological domain	26 – 1347	Extracellular
Domain	714 – 885	Laminin G-like 2
Glycosylation	757 – 757	N-linked (GlcNAc...) asparagine
Alternative sequence	710 – 1245	Missing. In isoform 5.

Literature citations
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.
Motta F.L.; Salles M.V.; Costa K.A.; Filippelli-Silva R.; Martin R.P.; Sallum J.M.F.;
Sci. Rep. 7:8654-8654(2017)
Cited for: INVOLVEMENT IN RETINAL DYSTROPHIES; VARIANTS LCA8 328-TRP--ILE-1406 DEL; ARG-948; TYR-948 AND 1226-GLY--ILE-1406 DEL; VARIANTS EARLY-ONSET RETINAL DYSTROPHY HIS-764 AND 1390-ARG--ILE-1406 DEL; VARIANTS RP12 THR-836 AND ARG-1107; VARIANTS PRO-479; PRO-921 AND ASN-1031;

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.