UniProtKB/SwissProt variant VAR

Cytotoxic T-lymphocyte protein 4
Gene: CTLA4
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Variant information Variant position:

70 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 Arginine (R) to Tryptophan (W) at position 70 (R70W, p.Arg70Trp). 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 large size and aromatic (W) 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 IDAIL. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs606231422 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SRGIASFVCEYASPGKATEV R VTVLRQADSQVTEVCAATYM 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                         SRGIASFVCEYASPGKATEVRVTVLRQADSQVTEVCAATYM

                              SRGVASFVCEYGSSGNAAEVRVTMLRQAGSQMTEVCAATYT

Mouse                         SHGVASFPCEYSPSHNTDEVRVTVLRQTNDQMTEVCATTFT

Pig                           SRGVASFVCEYGSAGKAAEVRVTVLRRAGSQMTEVCAATYT

Rabbit                        SRGVASFVCEYASSHKATEVRVTVLRQANSQMTEVCAMTYT

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	36 – 223	Cytotoxic T-lymphocyte protein 4
Topological domain	36 – 161	Extracellular
Domain	39 – 140	Ig-like V-type
Disulfide bond	58 – 129
Alternative sequence	38 – 204	Missing. In isoform 2 and isoform 3.
Alternative sequence	58 – 58	C -> S. In isoform 4.
Alternative sequence	59 – 204	Missing. In isoform 4.
Mutagenesis	70 – 70	R -> AD. Strongly reduced interaction with CD80, CD86 and ICOSLG.
Beta strand	68 – 77

Literature citations
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.
Schubert D.; Bode C.; Kenefeck R.; Hou T.Z.; Wing J.B.; Kennedy A.; Bulashevska A.; Petersen B.S.; Schaeffer A.A.; Gruening B.A.; Unger S.; Frede N.; Baumann U.; Witte T.; Schmidt R.E.; Dueckers G.; Niehues T.; Seneviratne S.; Kanariou M.; Speckmann C.; Ehl S.; Rensing-Ehl A.; Warnatz K.; Rakhmanov M.; Thimme R.; Hasselblatt P.; Emmerich F.; Cathomen T.; Backofen R.; Fisch P.; Seidl M.; May A.; Schmitt-Graeff A.; Ikemizu S.; Salzer U.; Franke A.; Sakaguchi S.; Walker L.S.; Sansom D.M.; Grimbacher B.;
Nat. Med. 20:1410-1416(2014)
Cited for: POLYMORPHISM; INVOLVEMENT IN IDAIL; VARIANT IDAIL TRP-70;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16410: Variant p.Arg70Trp