UniProtKB/SwissProt variant VAR

Variant information

Variant position:

8

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

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:

From Histidine (H) to Aspartate (D) at position 8 (H8D, p.His8Asp).

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:

Change from medium size and polar (H) to medium size and acidic (D)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-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:

In XLP1.

Any additional useful information about the variant.

Sequence information

Variant position:

8

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:

MDAVAVY H GKISRETGEKLLLATGLDGS

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                         MDAVAVYHGKISRETGEKLLLATGLDGS

Rhesus macaque                MDAVAVYHGKISRETGEKLLLATGLDGS

Mouse                         MDAVTVYHGKISRETGEKLLLATGLDGS

Rat                           MDAVTVYHGKISREMGEKLLLATGLDGS

Pig                           MDAVTVYHGKISRETGEKLLLATGLDGS

Bovine                        MDAVAVYHGKISRETGEKLLLATGLDGS

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
Chain	1 – 128	SH2 domain-containing protein 1A
Domain	6 – 104	SH2

Literature citations

SH2D1A mutations in Japanese males with severe Epstein-Barr virus-associated illnesses.
Sumazaki R.; Kanegane H.; Osaki M.; Fukushima T.; Tsuchida M.; Matsukura H.; Shinozaki K.; Kimura H.; Matsui A.; Miyawaki T.;
Blood 98:1268-1270(2001)
Cited for: VARIANTS XLP1 ASP-8; SER-27; TYR-33 AND VAL-49;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60880: Variant p.His8Asp