UniProtKB/SwissProt variant VAR

Variant information

Variant position:

262

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 Serine (S) to Phenylalanine (F) at position 262 (S262F, p.Ser262Phe).

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 small size and polar (S) to large size and aromatic (F)

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

BLOSUM score:

-2

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 FSGS1.

Any additional useful information about the variant.

Sequence information

Variant position:

262

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

Protein sequence length:

911

The length of the canonical sequence.

Location on the sequence:

DAEDIVNTARPDEKAIMTYV S SFYHAFSGAQKAETAANRIC

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                         DAEDIVNTARPDEKAIMTYVSSFYHAFSGAQKAETAANRIC

Mouse                         DAEDIVNTARPDEKAIMTYVSSFYHAFSGAQKAETAANRIC

Rat                           DAEDIVNTARPDEKAIMTYVSSFYHAFSGAQKAETAANRIC

Bovine                        DAEDIVNTARPDEKAIMTYVSSFYHAFSGAQKAETAANRIC

Chicken                       DAEDIVNTARPDEKAIMTYVSSFYHAFSGAQKAETAANRIC

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 – 911	Alpha-actinin-4
Domain	163 – 269	Calponin-homology (CH) 2
Region	1 – 269	Actin-binding
Modified residue	249 – 249	Phosphothreonine
Alternative sequence	54 – 272	Missing. In isoform ACTN4ISO.
Alternative sequence	89 – 478	Missing. In isoform 3.
Helix	254 – 268

Literature citations

Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism.
Choi H.J.; Lee B.H.; Cho H.Y.; Moon K.C.; Ha I.S.; Nagata M.; Choi Y.; Cheong H.I.;
Am. J. Kidney Dis. 51:834-838(2008)
Cited for: VARIANT FSGS1 PHE-262;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43707: Variant p.Ser262Phe