Variant position: 31 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 128 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 ISRETGEKLLLATGLDGSYL LRDSESVPGVYCLCVLYHGYI
Rhesus macaque ISRETGEKLLLATGLDGSYL LRDSESVPGVYCLCVLYHGYI
Mouse ISRETGEKLLLATGLDGSYL LRDSESVPGVYCLCVLYQGYI
Rat ISREMGEKLLLATGLDGSYL LRDSESVPGVYCLCVLYQGYI
Pig ISRETGEKLLLATGLDGSYL LRDSESVPGVYCLCVLYQGYI
Bovine ISRETGEKLLLATGLDGSYL LRDSESVPGVYCLCVLYQGYI
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
1 – 128 SH2 domain-containing protein 1A
6 – 104 SH2
32 – 32 R -> Q. Strongly reduced affinity for SLAMF1.
28 – 33
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.;
Cited for: VARIANTS XLP1 CYS-7; ARG-28; PRO-31; TRP-42; ILE-53; CYS-54; SER-87; PRO-99 AND GLY-102;
Disease-causing SAP mutants are defective in ligand binding and protein folding.
Li C.; Iosef C.; Jia C.Y.H.; Gkourasas T.; Han V.K.M.; Li S.-C.;
Cited for: CHARACTERIZATION OF VARIANTS XLP1 PRO-31; CYS-54; LEU-55 AND SER-87;
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