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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NEV4: Variant p.Leu697Trp

Myosin-IIIa
Gene: MYO3A
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Variant information Variant position: help 697 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 Leucine (L) to Tryptophan (W) at position 697 (L697W, p.Leu697Trp). 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 hydrophobic (L) to large size and aromatic (W) 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 DFNA90; pathogenic; decreased function in filopodium assembly resulting in lower elongation rate of actin protrusions; decreased ATPase and microfilament motor activity; no effect on ATP binding; the mutant has a dominant negative effect on subcellular localzation by displacing wild-type protein from the tips of stereocilia. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 697 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1616 The length of the canonical sequence.
Location on the sequence: help AMAKTLYGRLFSWIVNCINS L LKHDSSPSGNGDELSIGILD 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                         AMAKTLYGRLFSWIVNCINSLLKHDSSPSGNGDELSIGILD

Mouse                         AMAKTLYGRLFSCIVNCINSLLKHDTSPSGD-EELNIGILD
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 – 1616 Myosin-IIIa
Domain 338 – 1053 Myosin motor
Alternative sequence 248 – 1616 Missing. In isoform 2.



Literature citations
Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.
Dantas V.G.L.; Raval M.H.; Ballesteros A.; Cui R.; Gunther L.K.; Yamamoto G.L.; Alves L.U.; Bueno A.S.; Lezirovitz K.; Pirana S.; Mendes B.C.A.; Yengo C.M.; Kachar B.; Mingroni-Netto R.C.;
Sci. Rep. 8:8706-8706(2018)
Cited for: VARIANT DFNA90 TRP-697; CHARACTERIZATION OF VARIANT DFNA90 TRP-697; INVOLVEMENT IN DFNA90; FUNCTION; SUBCELLULAR LOCATION;
Deafness mutation in the MYO3A motor domain impairs actin protrusion elongation mechanism.
Gunther L.K.; Cirilo J.A. Jr.; Desetty R.; Yengo C.M.;
Mol. Biol. Cell 33:ar5-ar5(2022)
Cited for: CHARACTERIZATION OF VARIANT DFNA90 TRP-697; FUNCTION; CATALYTIC ACTIVITY;
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.