UniProtKB/Swiss-Prot Q13432: Variant p.Gly22Val

Protein unc-119 homolog A
Gene: UNC119
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Variant information Variant position:

22 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Valine (V) at position 22 (G22V, p.Gly22Val). 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 medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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 IMD13; uncertain significance; impairs interaction with LCK; impairs LCK activation; induces LCK mislocalization. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs199714731 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

KVKKGGGGAGTATESAPGPS G QSVAPIPQPPAESESGSESE 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                         KVKKGGGGAGTATESAPGPSGQSVAPIPQPPAESESGSESE

                              KVKKGGGGAGTGAEPASGAPGPSVEPKPEPQAESESGSESE

Mouse                         KVKKGGGGTGSGAEPVPGASNRSAEPTREPGAEAESGSESE

Rat                           KVKKGGGGTGPGAEPVPGASNRSVEPTREPGAEAESGSESE

Bovine                        KVKKGGGGAGTGAEHAPGASGPNVEPKPELQAESESGSESE

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	1 – 240	Protein unc-119 homolog A
Region	1 – 61	Disordered
Region	1 – 59	Required for midbody localization
Compositional bias	16 – 37	Polar residues
Modified residue	37 – 37	Phosphoserine; by CK2
Modified residue	39 – 39	Phosphoserine; by CK2
Modified residue	41 – 41	Phosphoserine; by CK2
Mutagenesis	37 – 37	S -> A. Loss of phosphorylation; when associated with A-39 and A-41.
Mutagenesis	39 – 39	S -> A. Loss of phosphorylation; when associated with A-37 and A-41.
Mutagenesis	41 – 41	S -> A. Loss of phosphorylation; when associated with A-37 and A-39.

Literature citations
A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia.
Gorska M.M.; Alam R.;
Blood 119:1399-1406(2012)
Cited for: VARIANT IMD13 VAL-22; CHARACTERIZATION OF VARIANT IMD13 VAL-22;

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.