UniProtKB/SwissProt variant VAR

Variant information

Variant position:

70

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

Type of variant:

Unclassified

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Proline (P) to Leucine (L) at position 70 (P70L, p.Pro70Leu).

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:

-3

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

Involvement in disease:

Note=Defects in ACTG1 has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea. {ECO:0000269|PubMed:28493397}.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

Found in a patient with isolated coloboma; decreased incorporation into F-actin; decreased interaction with cofilin; loss of interaction with TWF1, CAPZB and profilin.

Any additional useful information about the variant.

Sequence information

Variant position:

70

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

Protein sequence length:

375

The length of the canonical sequence.

Location on the sequence:

KDSYVGDEAQSKRGILTLKY P IEHGIVTNWDDMEKIWHHTF

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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         KDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTF

Mouse                         KDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTF

Rat                           KDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTF

Bovine                        KDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTF

Chicken                       KDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTF

Xenopus laevis                KDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTF

Xenopus tropicalis            KDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTF

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.

Type	Positions	Description
Chain	1 – 375	Actin, cytoplasmic 2
Chain	2 – 375	Actin, cytoplasmic 2, N-terminally processed
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

Literature citations

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Rainger J.; Williamson K.A.; Soares D.C.; Truch J.; Kurian D.; Gillessen-Kaesbach G.; Seawright A.; Prendergast J.; Halachev M.; Wheeler A.; McTeir L.; Gill A.C.; van Heyningen V.; Davey M.G.; FitzPatrick D.R.;
Hum. Mutat. 38:942-946(2017)
Cited for: VARIANT LEU-70; CHARACTERIZATION OF VARIANT LEU-70; INTERACTION WITH CAPZB; TWF1; COFILIN AND PROFILIN; SUBCELLULAR LOCATION;

UniProtKB/Swiss-Prot P63261: Variant p.Pro70Leu