UniProtKB/SwissProt variant VAR

Variant information

Variant position:

752

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 Arginine (R) to Glutamine (Q) at position 752 (R752Q, p.Arg752Gln).

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 large size and basic (R) to medium size and polar (Q)

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 BDPLT15.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs387907347 [ dbSNP | Ensembl ]

Sequence information

Variant position:

752

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

Protein sequence length:

892

The length of the canonical sequence.

Location on the sequence:

ENQILTRDAKGISQEQMNEF R ASFNHFDRDHSGTLGPEEFK

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                         ENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFK

Mouse                         ENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFK

Rat                           ENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFK

Bovine                        ENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFK

Chicken                       ENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFK

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 – 892	Alpha-actinin-1
Domain	746 – 781	EF-hand 1
Metal binding	759 – 759	Calcium
Metal binding	761 – 761	Calcium
Metal binding	763 – 763	Calcium
Metal binding	765 – 765	Calcium
Metal binding	770 – 770	Calcium

Literature citations

ACTN1 mutations cause congenital macrothrombocytopenia.
Kunishima S.; Okuno Y.; Yoshida K.; Shiraishi Y.; Sanada M.; Muramatsu H.; Chiba K.; Tanaka H.; Miyazaki K.; Sakai M.; Ohtake M.; Kobayashi R.; Iguchi A.; Niimi G.; Otsu M.; Takahashi Y.; Miyano S.; Saito H.; Kojima S.; Ogawa S.;
Am. J. Hum. Genet. 92:431-438(2013)
Cited for: VARIANTS BDPLT15 LYS-32; GLN-46; ILE-105; LYS-225; TRP-738 AND GLN-752; VARIANT TRP-197; CHARACTERIZATION OF VARIANTS BDPLT15 LYS-32 AND ILE-105;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12814: Variant p.Arg752Gln