Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60880: Variant p.Arg32Thr

SH2 domain-containing protein 1A
Gene: SH2D1A
Feedback?
Variant information Variant position: help 32 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Threonine (T) at position 32 (R32T, p.Arg32Thr). 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: help Change from large size and basic (R) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In XLP1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 32 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 128 The length of the canonical sequence.
Location on the sequence: help SRETGEKLLLATGLDGSYLL R DSESVPGVYCLCVLYHGYIY 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         SRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYHGYIY

Rhesus macaque                SRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYHGYIY

Mouse                         SRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYQGYIY

Rat                           SREMGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYQGYIY

Pig                           SRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYQGYIY

Bovine                        SRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYQGYIY
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 128 SH2 domain-containing protein 1A
Domain 6 – 104 SH2
Mutagenesis 32 – 32 R -> Q. Strongly reduced affinity for SLAMF1.
Beta strand 28 – 33



Literature citations
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.
Coffey A.J.; Brooksbank R.A.; Brandau O.; Oohashi T.; Howell G.R.; Bye J.M.; Cahn A.P.; Durham J.; Heath P.; Wray P.; Pavitt R.; Wilkinson J.; Leversha M.; Huckle E.; Shaw-Smith C.J.; Dunham A.; Rhodes S.; Schuster V.; Porta G.; Yin L.; Serafini P.; Sylla B.; Zollo M.; Franco B.; Bentley D.R.;
Nat. Genet. 20:129-135(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS XLP1 THR-32; ILE-68 AND LEU-101; SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients.
Yin L.; Ferrand V.; Lavoue M.-F.; Hayoz D.; Philippe N.; Souillet G.; Seri M.; Giacchino R.; Castagnola E.; Hodgson S.; Sylla B.S.; Romeo G.;
Hum. Genet. 105:501-505(1999)
Cited for: VARIANT XLP1 THR-32;
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.