UniProtKB/SwissProt variant VAR

Variant information

Variant position:

166

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 Serine (S) to Asparagine (N) at position 166 (S166N, p.Ser166Asn).

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 polar (S) to medium size and polar (N)

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 IMD41; the receptor does not localize to the plasma membrane.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs796051887 [ dbSNP | Ensembl ]

Sequence information

Variant position:

166

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

Protein sequence length:

272

The length of the canonical sequence.

Location on the sequence:

QMVYYQCVQGYRALHRGPAE S VCKMTHGKTRWTQPQLICTG

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                         QMVYYQCVQGYR--ALHRGPAESVCKMTHGK--TRWTQPQLICTG

                              QTLHYQCMQGFT--ALHRGPAKSICKTIFGK--TRWTQPPL

Rhesus macaque                QMVYYQCVQGYR--ALHRGPAESICKMTHGK--TRWTQPQL

Mouse                         QSVHYECIPGYK--ALQRGPAISICKMKCGK--TGWTQPQL

Rat                           QIVLYTCIQGYK--ALQRGPAISICKTVCGE--IRWTHPQL

Pig                           QTVRYQCLPGFRDGSAQNNSAQSVCKKQEDQEVMRWTQPKL

Bovine                        QTVHYQCAQGFR--ALQTSPAESTCMMINGE--LRWTRPRL

Sheep                         QTVHYQCAQGFR--ALHTGPAESTCTMIHGE--MRWTRPRL

Cat                           QTVHYQCMQGFR--ALKRGPAKSVCKTTCGK--ATWTQPRL

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	22 – 272	Interleukin-2 receptor subunit alpha
Topological domain	22 – 240	Extracellular
Domain	123 – 186	Sushi 2
Disulfide bond	24 – 168
Disulfide bond	152 – 184
Beta strand	165 – 171

Literature citations

Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity.
Goudy K.; Aydin D.; Barzaghi F.; Gambineri E.; Vignoli M.; Ciullini Mannurita S.; Doglioni C.; Ponzoni M.; Cicalese M.P.; Assanelli A.; Tommasini A.; Brigida I.; Dellepiane R.M.; Martino S.; Olek S.; Aiuti A.; Ciceri F.; Roncarolo M.G.; Bacchetta R.;
Clin. Immunol. 146:248-261(2013)
Cited for: FUNCTION; INVOLVEMENT IN IMD41; VARIANT IMD41 ASN-166; CHARACTERIZATION OF VARIANT IMD41 ASN-166;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01589: Variant p.Ser166Asn