UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1321

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

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 Cysteine (C) to Serine (S) at position 1321 (C1321S, p.Cys1321Ser).

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 (C) to small size and polar (S)

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

Variant description:

In LCA8; also early onset RP without preservation of the paraarteriolar retinal pigment epithelium.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs62635649 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1321

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:

CASDPCVNGGLCQDLLNKFQ C LCDVAFAGERCEVDLADDLI

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                         CASDPCVNGGLCQDLLNKFQCLCDVAFAGERCEVDLADDLI

Mouse                         CASDPCINGGLCRDLVNRFLCICDVAFAGERCELDLADDRL

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	1306 – 1321
Alternative sequence	1294 – 1406	Missing. In isoform 4.

Literature citations

CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation.
Lotery A.J.; Malik A.; Shami S.A.; Sindhi M.; Chohan B.; Maqbool C.; Moore P.A.; Denton M.J.; Stone E.M.;
Ophthalmic Genet. 22:163-169(2001)
Cited for: VARIANT RP12 SER-1321;

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S.; Perrault I.; Gerber S.; Tanguy G.; Barbet F.; Ducroq D.; Calvas P.; Dollfus H.; Hamel C.; Lopponen T.; Munier F.; Santos L.; Shalev S.; Zafeiriou D.; Dufier J.-L.; Munnich A.; Rozet J.-M.; Kaplan J.;
Hum. Mutat. 23:306-317(2004)
Cited for: VARIANTS LCA8 TYR-584; GLN-710; THR-741; MET-745; CYS-764; THR-852; TYR-948; ILE-1025; ARG-1103; ARG-1107; PRO-1107 AND SER-1321;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P82279: Variant p.Cys1321Ser