UniProtKB/Swiss-Prot P82279: Variant p.Arg1331His

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

1331 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 Arginine (R) to Histidine (H) at position 1331 (R1331H, p.Arg1331His). 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
Other resources:

Links to websites of interest for the variant.

Variant rs62636285 [ dbSNP | Ensembl ]

Sequence information Variant position:

1331 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:

LCQDLLNKFQCLCDVAFAGE R CEVDLADDLISDIFTTIGSV 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                         LCQDLLNKFQCLCDVAFAGERCEVDLADDLISDIFTTIGSV

Mouse                         LCRDLVNRFLCICDVAFAGERCELDLADDRLLGIFTAVGSG

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	1297 – 1333	EGF-like 19; calcium-binding
Disulfide bond	1323 – 1332
Alternative sequence	1294 – 1406	Missing. In isoform 4.

Literature citations
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
den Hollander A.I.; Heckenlively J.R.; van den Born L.I.; de Kok Y.J.M.; van der Velde-Visser S.D.; Kellner U.; Jurklies B.; van Schooneveld M.J.; Blankenagel A.; Rohrschneider K.; Wissinger B.; Cruysberg J.R.M.; Deutman A.F.; Brunner H.G.; Apfelstedt-Sylla E.; Hoyng C.B.; Cremers F.P.M.;
Am. J. Hum. Genet. 69:198-203(2001)
Cited for: VARIANTS LCA8 TYR-948 AND ARG-1100; VARIANTS RP12 CYS-433; CYS-764; HIS-837; TYR-948; ARG-1181 AND THR-1354; VARIANTS MET-289; MET-821; SER-894 AND HIS-1331; Mutations in the CRB1 gene cause Leber congenital amaurosis.
Lotery A.J.; Jacobson S.G.; Fishman G.A.; Weleber R.G.; Fulton A.B.; Namperumalsamy P.; Heon E.; Levin A.V.; Grover S.; Rosenow J.R.; Kopp K.K.; Sheffield V.C.; Stone E.M.;
Arch. Ophthalmol. 119:415-420(2001)
Cited for: VARIANTS LCA8 VAL-144; TYR-383; GLY-480; ARG-480; TYR-681; CYS-764; TYR-948; ARG-1205 AND HIS-1317; VARIANTS MET-289; GLN-769 AND HIS-1331; Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.
Bernal S.; Calaf M.; Garcia-Hoyos M.; Garcia-Sandoval B.; Rosell J.; Adan A.; Ayuso C.; Baiget M.;
J. Med. Genet. 40:E89-E89(2003)
Cited for: VARIANTS RP12 SER-749 DEL; GLY-891; TYR-948; LEU-962 DEL AND THR-1100; VARIANT LCA8 THR-205; VARIANTS MET-289; GLU-679; HIS-769 AND HIS-1331;

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.