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:
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 SRGIASFVCEYASPGKATEV RVTVLRQADSQVTEVCAATYM
Mouse SHGVASFPCEYSPSHNTDEV RVTVLRQTNDQMTEVCATTFT
Pig SRGVASFVCEYGSAGKAAEV RVTVLRRAGSQMTEVCAATYT
Rabbit SRGVASFVCEYASSHKATEV RVTVLRQANSQMTEVCAMTYT
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
36 – 223 Cytotoxic T-lymphocyte protein 4
36 – 161 Extracellular
39 – 140 Ig-like V-type
58 – 129
38 – 204 Missing. In isoform 2 and isoform 3.
58 – 58 C -> S. In isoform 4.
59 – 204 Missing. In isoform 4.
70 – 70 R -> AD. Strongly reduced interaction with CD80, CD86 and ICOSLG.
68 – 77
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 ALPS5; VARIANT ALPS5 TRP-70;
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.