Variant position: 42 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 ATGLDGSYLLRDSESVPGVY CLCVLYHGYIYTYRVSQTETG
Rhesus macaque ATGLDGSYLLRDSESVPGVY CLCVLYHGYIYTYRVSQTETG
Mouse ATGLDGSYLLRDSESVPGVY CLCVLYQGYIYTYRVSQTETG
Rat ATGLDGSYLLRDSESVPGVY CLCVLYQGYIYTYRVSQTETG
Pig ATGLDGSYLLRDSESVPGVY CLCVLYQGYIYTYRVSHTETG
Bovine ATGLDGSYLLRDSESVPGVY CLCVLYQGYIYTYRVSQTETG
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
40 – 128 VYCLCVLYHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKIKNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIREDPDVCLKAP -> ITVTFIHTECPRQKQVLGVLSISEARSRHCNTSAVSS. In isoform E.
32 – 32 R -> Q. Strongly reduced affinity for SLAMF1.
41 – 47
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;
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;
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.