UniProtKB/Swiss-Prot O75369: Variant p.Val1471Met

Filamin-B
Gene: FLNB
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Variant information Variant position:

1471 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Valine (V) to Methionine (M) at position 1471 (V1471M, p.Val1471Met). 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
Other resources:

Links to websites of interest for the variant.

Variant rs12632456 [ dbSNP | Ensembl ]

Sequence information Variant position:

1471 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2602 The length of the canonical sequence.
Location on the sequence:

GLAPLEVRVLGPRGLVEPVN V VDNGDGTHTVTYTPSQEGPY 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                         GLAPLEVRVLGPRGLVEPVNVVDNGDGTHTVTYTPSQEGPY

Mouse                         GLAPLEVRVLGPRGLVEPVNVVDNGDGTHTVTYTPSQEGPY

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 – 2602	Filamin-B
Repeat	1416 – 1511	Filamin 13
Region	1128 – 1511	Interaction with FBLP1
Alternative sequence	1463 – 1463	R -> RADDTDSQSWRSPLKALSEFFKGDPKGDFNKT. In isoform 8.

Literature citations
Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha.
Takafuta T.; Wu G.; Murphy G.F.; Shapiro S.S.;
J. Biol. Chem. 273:17531-17538(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; SUBCELLULAR LOCATION; INTERACTION WITH GP1BA; VARIANTS ASN-1157 AND MET-1471; Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family.
Chakarova C.; Wehnert M.S.; Uhl K.; Sakthivel S.; Vosberg H.-P.; van der Ven P.F.M.; Fuerst D.O.;
Hum. Genet. 107:597-611(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); GENE ORGANIZATION; SIMILARITY TO OTHER MEMBERS OF THE FAMILY; VARIANTS ASN-1157 AND MET-1471; Fine expression profiling of full-length transcripts using a size-unbiased cDNA library prepared with the vector-capping method.
Oshikawa M.; Sugai Y.; Usami R.; Ohtoko K.; Toyama S.; Kato S.;
DNA Res. 15:123-136(2008)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 8 AND 9); VARIANTS ASN-1157 AND MET-1471;

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.