Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q08043: Variant p.Glu635Ala

Alpha-actinin-3
Gene: ACTN3
Feedback?
Variant information Variant position: help 635 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Glutamate (E) to Alanine (A) at position 635 (E635A, p.Glu635Ala). 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 medium size and acidic (E) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Polymorphism: help The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a nonsense variant creating stop codon at position 577 in the reference genome, leading to ACTN3 deficiency. However, the presence of this variant is not associated with any disease phenotype [MIM:617749]. The sequence shown in this entry is that of variant p.Ter577Arg, which has a frequency of about 62% in the human population according to the Genome Aggregation Database (gnomAD v3.1.2). Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 635 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 901 The length of the canonical sequence.
Location on the sequence: help NTKWDMVRKLVPSCDQTLQE E LARQQVNERLRRQFAAQANA 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                         NTKWDMVRKLVPSCDQTLQEELARQQVNERLRRQFAAQANA

Mouse                         NNKWDTVRKLVPSRDQTLQEELARQQVNERLRRQFAAQANA

Bovine                        NTKWDTVRKLVPSRDQMLQEELTRQQVNERLRRQFAAQANA

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 – 901 Alpha-actinin-3



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.