UniProtKB/Swiss-Prot Q9NYQ6: Variant p.Arg2312Pro

Cadherin EGF LAG seven-pass G-type receptor 1
Gene: CELSR1
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Variant information Variant position:

2312 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 Proline (P) at position 2312 (R2312P, p.Arg2312Pro). 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 hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

Does not affect protein localization to the cell membrane. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs7287089 [ dbSNP | Ensembl ]

Sequence information Variant position:

2312 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

3014 The length of the canonical sequence.
Location on the sequence:

EEKEGPLLRPAGRRTTPQTT R PGPGTEREAPISRRRRHPDD 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                         EEKEGPLLRPAGRRTTPQTTRPGPGTEREAPISRRRRHPDD

Mouse                         EKKEGPVVRLTNRRTTPLTAQPEPRAERETSSSRRRRHPDE

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	21 – 3014	Cadherin EGF LAG seven-pass G-type receptor 1
Topological domain	22 – 2469	Extracellular
Domain	2297 – 2461	GAIN-B
Region	2291 – 2328	Disordered
Alternative sequence	1398 – 3014	Missing. In isoform 2.

Literature citations
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.
Robinson A.; Escuin S.; Doudney K.; Vekemans M.; Stevenson R.E.; Greene N.D.; Copp A.J.; Stanier P.;
Hum. Mutat. 33:440-447(2012)
Cited for: VARIANTS NTD VAL-773; GLN-2438; LEU-2964 AND ALA-2983; VARIANTS PRO-2312 AND THR-2739; CHARACTERIZATION OF VARIANTS NTD VAL-773; GLN-2438; LEU-2964 AND ALA-2983; CHARACTERIZATION OF VARIANTS PRO-2312 AND THR-2739;

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.