UniProtKB/Swiss-Prot Q99674: Variant p.Ala212Val

Cell growth regulator with EF hand domain protein 1
Gene: CGREF1
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Variant information Variant position:

212 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 Alanine (A) to Valine (V) at position 212 (A212V, p.Ala212Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) 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
Polymorphism:

The number of repeats of 17 amino acids in the C-terminal is polymorphic and varies between 3 and 4. The majority of available transcripts lacks one of these repeats. The sequence shown, corresponding to the reference genome (GRCh38/hg38), contains 4 repeats. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs11893478 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

KGQVEARRESLDPVQEPGGQ A EADGDVPGPRGEAEGQAEAK 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                         KGQVEARRESLDPVQEPGGQAEADGDVPGPRGEAEGQAEAK

Mouse                         RGQVEAKRASLEPEQ--------------------------

Rat                           TSQVEAKRA-LEPEQ--------------------------

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	20 – 318	Cell growth regulator with EF hand domain protein 1
Region	177 – 318	Disordered
Alternative sequence	133 – 318	Missing. In isoform 2.
Alternative sequence	209 – 318	Missing. In isoform 3.

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.