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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51532: Variant p.Glu1578Lys

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4
Gene: SMARCA4
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Variant information Variant position: help 1578 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 Glutamate (E) to Lysine (K) at position 1578 (E1578K, p.Glu1578Lys). 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 large size and basic (K) 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
Variant description: help In OTSC12; likely pathogenic; CRISP-Cas9 transgenic mice carrying this variant exhibit marked hearing impairment, with a highly irregular structure of the incus bone in the auditory bullae, causing disruption in the ossicular chain. Any additional useful information about the variant.


Sequence information Variant position: help 1578 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1647 The length of the canonical sequence.
Location on the sequence: help TSVRQKIEKEDDSEGEESEE E EEGEEEGSESESRSVKVKIK 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                         TSVRQKIEKEDDSEGEESEEEEEGEEEGSESESRSVKVKIK

Mouse                         TSVRQKIEKEDDSEGEESEEEEEGEEEGSESESRSVKVKIK

Rat                           TSVRQKIEKEDDSEGEESEEEEEGEEEGSESESRSVKVKIK

Bovine                        TSVRQKIEKEDDSEGEESEEEEEGEEEGSESESRSVKVKIK
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 – 1647 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4
Region 1564 – 1647 Disordered
Compositional bias 1567 – 1587 Acidic residues
Modified residue 1570 – 1570 Phosphoserine
Modified residue 1575 – 1575 Phosphoserine
Modified residue 1586 – 1586 Phosphoserine



Literature citations
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.
Drabkin M.; Jean M.M.; Noy Y.; Halperin D.; Yogev Y.; Wormser O.; Proskorovski-Ohayon R.; Dolgin V.; Levaot N.; Brumfeld V.; Ovadia S.; Kishner M.; Kazenell U.; Avraham K.B.; Shelef I.; Birk O.S.;
J. Med. Genet. 61:117-124(2024)
Cited for: INVOLVEMENT IN OTSC12; VARIANT OTSC12 LYS-1578; CHARACTERIZATION OF VARIANT OTSC12 LYS-1578;
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.