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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60880: Variant p.Cys42Trp

SH2 domain-containing protein 1A
Gene: SH2D1A
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Variant information Variant position: help 42 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 Cysteine (C) to Tryptophan (W) at position 42 (C42W, p.Cys42Trp). 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 medium size and polar (C) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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; loss of interaction with CD84 and reduced affinity for SLAMF1. Any additional useful information about the variant.


Sequence information Variant position: help 42 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 ATGLDGSYLLRDSESVPGVY C LCVLYHGYIYTYRVSQTETG 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                         ATGLDGSYLLRDSESVPGVYCLCVLYHGYIYTYRVSQTETG

Rhesus macaque                ATGLDGSYLLRDSESVPGVYCLCVLYHGYIYTYRVSQTETG

Mouse                         ATGLDGSYLLRDSESVPGVYCLCVLYQGYIYTYRVSQTETG

Rat                           ATGLDGSYLLRDSESVPGVYCLCVLYQGYIYTYRVSQTETG

Pig                           ATGLDGSYLLRDSESVPGVYCLCVLYQGYIYTYRVSHTETG

Bovine                        ATGLDGSYLLRDSESVPGVYCLCVLYQGYIYTYRVSQTETG
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
Alternative sequence 40 – 128 VYCLCVLYHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKIKNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIREDPDVCLKAP -> ITVTFIHTECPRQKQVLGVLSISEARSRHCNTSAVSS. In isoform E.
Mutagenesis 32 – 32 R -> Q. Strongly reduced affinity for SLAMF1.
Beta strand 41 – 47



Literature citations
Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease.
Sumegi J.; Huang D.; Lanyi A.; Davis J.D.; Seemayer T.A.; Maeda A.; Klein G.; Seri M.; Wakiguchi H.; Purtilo D.T.; Gross T.G.;
Blood 96:3118-3125(2000)
Cited for: VARIANTS XLP1 CYS-7; ARG-28; PRO-31; TRP-42; ILE-53; CYS-54; SER-87; PRO-99 AND GLY-102; Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients.
Morra M.; Simarro-Grande M.; Martin M.; Chen A.S.-I.; Lanyi A.; Silander O.; Calpe S.; Davis J.; Pawson T.; Eck M.J.; Sumegi J.; Engel P.; Li S.-C.; Terhorst C.;
J. Biol. Chem. 276:36809-36816(2001)
Cited for: CHARACTERIZATION OF VARIANTS XLP1 CYS-7; ARG-28; TRP-42; ILE-53; ILE-68; PRO-99; LEU-101 AND GLY-102; INTERACTION WITH CD244; SLAMF1; CD84 AND LY9;
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.