UniProtKB/Swiss-Prot Q96P31: Variant p.Asn721Ser

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 721 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 Asparagine (N) to Serine (S) at position 721 (N721S, p.Asn721Ser). 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 medium size and polar (N) to small size and polar (S) 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
Other resources: Links to websites of interest for the variant.

• Variant rs2282284 [ dbSNP | Ensembl ]

Sequence information

Variant position: 721 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 734 The length of the canonical sequence.
Location on the sequence: DDSAGEASSRGRAHEEDDEE N YENVPRVLLASDH 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.
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	18 – 734	Fc receptor-like protein 3
Topological domain	595 – 734	Cytoplasmic
Region	695 – 734	Disordered
Motif	720 – 725	ITIM motif 4
Modified residue	722 – 722	Phosphotyrosine
Alternative sequence	190 – 734	Missing. In isoform 4.
Alternative sequence	200 – 734	Missing. In isoform 5.
Alternative sequence	708 – 734	Missing. In isoform 7.
Mutagenesis	722 – 722	Y -> F. No effect on inhibition of cell death. No effect on interaction with INPP5D, PTPN6 and PTPN11. Loss of phosphorylation, calcium influx inhibition and interaction with INPP5D, PTPN6 and PTPN11; when associated with F-650; F-662 and F-692. Alters binding with PTPN6 and PTPN11; when associated with F-692. Decreases calcium influx inhibition; when associated with F-650 and F-662. Decreases calcium influx inhibition; when associated with F-650 and F-692. Decreases calcium influx inhibition; when associated with F-692.

Literature citations

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