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UniProtKB/Swiss-Prot P13796: Variant p.Asn608Ser

Plastin-2
Gene: LCP1
Variant information

Variant position:  608
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 Asparagine (N) to Serine (S) at position 608 (N608S, p.Asn608Ser).
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:  Change from medium size and polar (N) to small size and polar (S)
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

Involvement in disease:  Note=Defects in LCP1 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; increases interaction with actin.
Any additional useful information about the variant.



Sequence information

Variant position:  608
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  627
The length of the canonical sequence.

Location on the sequence:   SMARKIGARVYALPEDLVEV  N PKMVMTVFACLMGKGMKRV
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.

TypePositionsDescription
Chain 2 – 627 Plastin-2
Domain 515 – 624 Calponin-homology (CH) 4
Region 380 – 624 Actin-binding 2


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 SER-608; CHARACTERIZATION OF VARIANT SER-608; FUNCTION; INTERACTION WITH ACTIN;

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.