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UniProtKB/Swiss-Prot P60709: Variant p.Leu65Val

Actin, cytoplasmic 1
Gene: ACTB
Variant information

Variant position:  65
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 Leucine (L) to Valine (V) at position 65 (L65V, p.Leu65Val).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In BRWS1.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  65
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  375
The length of the canonical sequence.

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.

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.

Chain 1 – 375 Actin, cytoplasmic 1
Chain 2 – 375 Actin, cytoplasmic 1, N-terminally processed
Modified residue 47 – 47 Methionine (R)-sulfoxide
Modified residue 73 – 73 Tele-methylhistidine
Modified residue 84 – 84 N6-methyllysine
Cross 50 – 50 (Microbial infection) Isoglutamyl lysine isopeptide (Lys-Glu) (interchain with E-270); by Vibrio toxins RtxA and VgrG1
Mutagenesis 69 – 69 Y -> A. Decreased interaction with SETD3.
Mutagenesis 71 – 71 I -> A. Decreased interaction with SETD3.
Mutagenesis 71 – 71 I -> A. Impaired methylation by SETD3.
Mutagenesis 73 – 73 H -> A. Abolished methylation by SETD3.
Mutagenesis 73 – 73 H -> K. Weak methylation by a A-256 or V-256 SETD3 mutant. High methylation by a F-256 and A-274 SETD3 mutant.
Mutagenesis 74 – 74 G -> A. Impaired methylation by SETD3.
Mutagenesis 79 – 79 W -> E. Does not affect methylation by SETD3.
Mutagenesis 80 – 80 D -> A. Decreased interaction with SETD3.
Mutagenesis 81 – 81 D -> A. Decreased interaction with SETD3.
Mutagenesis 82 – 82 M -> A. Decreased interaction with SETD3.

Literature citations

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Riviere J.B.; van Bon B.W.; Hoischen A.; Kholmanskikh S.S.; O'Roak B.J.; Gilissen C.; Gijsen S.; Sullivan C.T.; Christian S.L.; Abdul-Rahman O.A.; Atkin J.F.; Chassaing N.; Drouin-Garraud V.; Fry A.E.; Fryns J.P.; Gripp K.W.; Kempers M.; Kleefstra T.; Mancini G.M.; Nowaczyk M.J.; van Ravenswaaij-Arts C.M.; Roscioli T.; Marble M.; Rosenfeld J.A.; Siu V.M.; de Vries B.B.; Shendure J.; Verloes A.; Veltman J.A.; Brunner H.G.; Ross M.E.; Pilz D.T.; Dobyns W.B.;
Nat. Genet. 44:440-444(2012)
Cited for: VARIANTS BRWS1 ASP-12; VAL-65; CYS-196 AND HIS-196;

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.