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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21333: Variant p.Met102Val

Filamin-A
Gene: FLNA
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Variant information Variant position: help 102 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 Methionine (M) to Valine (V) at position 102 (M102V, p.Met102Val). 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 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: help 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: help In PVNH1. Any additional useful information about the variant.


Sequence information Variant position: help 102 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2647 The length of the canonical sequence.
Location on the sequence: help EVLSQKKMHRKHNQRPTFRQ M QLENVSVALEFLDRESIKLV 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                         EVLSQKKMHRKHNQRPTFRQMQLENVSVALEFLDRESIKLV

Mouse                         EVLSQKKMHRKHNQRPTFRQMQLENVSVALEFLDRESIKLV

Drosophila                    EVLSQKRM-PKYNKRPTFRSQKLENVSVALKFLQDEGIKIV
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 2 – 2647 Filamin-A
Domain 43 – 149 Calponin-homology (CH) 1
Region 2 – 274 Actin-binding
Helix 100 – 116



Literature citations
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Guerrini R.; Mei D.; Sisodiya S.M.; Sicca F.; Harding B.; Takahashi Y.; Dorn T.; Yoshida A.; Campistol J.; Kraemer G.; Moro F.; Dobyns W.B.; Parrini E.;
Neurology 63:51-56(2004)
Cited for: VARIANTS PVNH1 VAL-102 AND PHE-149;
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.