UniProtKB/Swiss-Prot Q9UMS6: Variant p.Thr573Ala

Synaptopodin-2
Gene: SYNPO2
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Variant information Variant position:

573 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 Threonine (T) to Alanine (A) at position 573 (T573A, p.Thr573Ala). 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 (T) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 rs7698598 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1093 The length of the canonical sequence.
Location on the sequence:

SYIEVSHGLGHVPQQNGFSG T SETANIQRMVPMNRTAKPFP 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                         SYIEVSHGLGHVPQQNGFSGTSETANIQRMVPMNRTAKPFP

Mouse                         SSFQMGRSLASVPQQNGFSGVSETAGAQRMFPMNRTAKPFL

Rat                           SSFQMGRSLGSVPQQNGFSGVSETAGPQRMIPMNRTAKPFL

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 – 1093	Synaptopodin-2
Region	481 – 663	Interaction with ACTN2
Region	507 – 803	Disordered
Region	534 – 663	F-actin binding
Compositional bias	564 – 583	Polar residues

Literature citations
Multiple isoforms of the tumor suppressor myopodin are simultaneously transcribed in cancer cells.
De Ganck A.; De Corte V.; Staes A.; Gevaert K.; Vandekerckhove J.; Gettemans J.;
Biochem. Biophys. Res. Commun. 370:269-273(2008)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); ALTERNATIVE SPLICING (ISOFORMS 1; 2 AND 3); SUBCELLULAR LOCATION; VARIANT ALA-573; Prostate cancer cell migration induced by myopodin isoforms is associated with formation of morphologically and biochemically distinct actin networks.
Kai F.; Duncan R.;
FASEB J. 27:5046-5058(2013)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4); VARIANT ALA-573; FUNCTION (ISOFORMS 1; 2; 3; 4 AND 5); SUBCELLULAR LOCATION (ISOFORMS 1; 2; 3; 4 AND 5); The sarcomeric Z-disc component myopodin is a multiadapter protein that interacts with filamin and alpha-actinin.
Linnemann A.; van der Ven P.F.; Vakeel P.; Albinus B.; Simonis D.; Bendas G.; Schenk J.A.; Micheel B.; Kley R.A.; Fuerst D.O.;
Eur. J. Cell Biol. 89:681-692(2010)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5); VARIANT ALA-573; INTERACTION WITH FLNC AND ACTN2; TISSUE SPECIFICITY (ISOFORM 5); ALTERNATIVE PROMOTER USAGE; DEVELOPMENTAL STAGE; SUBCELLULAR LOCATION; The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS ALA-154 AND ALA-573; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ALA-573; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANT ALA-573; Differentiation and stress-dependent nuclear-cytoplasmic redistribution of myopodin, a novel actin bundling protein.
Weins A.; Schwarz K.; Faul C.; Barisoni L.; Linke W.A.; Mundel P.;
J. Cell Biol. 155:393-404(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 263-1093 (ISOFORM 1); VARIANT ALA-573;

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.