UniProtKB/Swiss-Prot P06753: Variant p.Thr253Lys

Tropomyosin alpha-3 chain
Gene: TPM3
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Variant information Variant position:

253 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 Lysine (K) at position 253 (T253K, p.Thr253Lys). 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 large size and basic (K) 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
Variant description:

Found in patients with undefined congenital myopathy; likely pathogenic. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1553248515 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LKEAETRAEFAERSVAKLEK T IDDLEDELYAQKLKYKAISE 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                         LKEAETRAEFAERSVAKLEKTIDDLEDELYAQKLKYKAISE

Mouse                         LKEAETRAEFAERSVAKLEKTIDDLEDELYAQKLKYKAISD

Rat                           LKEAETRAEFAERSVAKLEKTIDDLEDKLKCTKEEHLCTQR

Pig                           LKEAETRAEFAERSVAKLEKTIDDLEDELYAQKLKYKAISE

Bovine                        LKEAETRAEFAERSVAKLEKTIDDLEDELYAQKLKYKAISE

Caenorhabditis elegans        LKEAETRAEFAERSVQKLQKEVDRLEDELLLEKERVRNLTE

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	2 – 285	Tropomyosin alpha-3 chain
Coiled coil	1 – 285
Modified residue	253 – 253	Phosphothreonine
Modified residue	262 – 262	Phosphotyrosine
Modified residue	272 – 272	Phosphoserine

Literature citations
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M.; Lehtokari V.L.; Marston S.; Nyman T.A.; Barnerias C.; Beggs A.H.; Bertini E.; Ceyhan-Birsoy O.; Cintas P.; Gerard M.; Gilbert-Dussardier B.; Hogue J.S.; Longman C.; Eymard B.; Frydman M.; Kang P.B.; Klinge L.; Kolski H.; Lochmueller H.; Magy L.; Manel V.; Mayer M.; Mercuri E.; North K.N.; Peudenier-Robert S.; Pihko H.; Probst F.J.; Reisin R.; Stewart W.; Taratuto A.L.; de Visser M.; Wilichowski E.; Winer J.; Nowak K.; Laing N.G.; Winder T.L.; Monnier N.; Clarke N.F.; Pelin K.; Groenholm M.; Wallgren-Pettersson C.;
Hum. Mutat. 35:779-790(2014)
Cited for: VARIANTS CMYP4A PHE-88; VAL-100; ALA-151; CYS-168; HIS-168 AND ILE-245; VARIANTS CYS-91 AND LYS-253;

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.