UniProtKB/Swiss-Prot A6NGG8: Variant p.Gly1247Ser

Photoreceptor cilium actin regulator
Gene: PCARE
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Variant information Variant position:

1247 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 Glycine (G) to Serine (S) at position 1247 (G1247S, p.Gly1247Ser). 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 glycine (G) to small size and polar (S) 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 rs187333111 [ dbSNP | Ensembl ]

Sequence information Variant position:

1247 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1288 The length of the canonical sequence.
Location on the sequence:

ESPKKDTEPGSSPCSPELQG G TRRASPPEFCVLGHGLQPEP 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                         ESPKKDTEPGSSPCSPELQG-GTRRASPPEFCVLGHGLQPEP

Mouse                         ENPKQELPPWNNSRVPELQGSSTKRASPLELCVLGHGLQPE

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	2 – 1288	Photoreceptor cilium actin regulator
Region	1190 – 1288	Disordered

Literature citations
Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort.
Audo I.; Lancelot M.E.; Mohand-Said S.; Antonio A.; Germain A.; Sahel J.A.; Bhattacharya S.S.; Zeitz C.;
Hum. Mutat. 32:E2091-E2103(2011)
Cited for: VARIANTS RP54 CYS-320; ASN-372; PRO-612 AND ASP-615; VARIANTS CYS-13; LYS-227; ALA-247; ASP-252; ILE-258; ASN-312; LYS-378; ARG-421; MET-580; THR-628; PRO-648; TYR-688; VAL-792; LEU-867; SER-954; GLN-955; THR-959; ARG-1020; PRO-1089 DEL; THR-1160; GLN-1177; SER-1225 INS; SER-1247 AND LEU-1254;

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.