UniProtKB/Swiss-Prot P63261: Variant p.Pro70Leu

Actin, cytoplasmic 2
Gene: ACTG1
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Variant information Variant position:

70 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 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
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
Beta strand	68 – 70

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;

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.