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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43707: Variant p.Ser262Phe

Alpha-actinin-4
Gene: ACTN4
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Variant information Variant position: help 262 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help 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: help 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: help -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: help In FSGS1. Any additional useful information about the variant.


Sequence information Variant position: help 262 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 911 The length of the canonical sequence.
Location on the sequence: help 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: help 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: help 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.
TypePositionsDescription
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;
Disclaimer: 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.