Variant position: 32 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 SRETGEKLLLATGLDGSYLL RDSESVPGVYCLCVLYHGYIY
Rhesus macaque SRETGEKLLLATGLDGSYLL RDSESVPGVYCLCVLYHGYIY
Mouse SRETGEKLLLATGLDGSYLL RDSESVPGVYCLCVLYQGYIY
Rat SREMGEKLLLATGLDGSYLL RDSESVPGVYCLCVLYQGYIY
Pig SRETGEKLLLATGLDGSYLL RDSESVPGVYCLCVLYQGYIY
Bovine SRETGEKLLLATGLDGSYLL RDSESVPGVYCLCVLYQGYIY
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
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;
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.