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UniProtKB/Swiss-Prot P07951: Variant p.Glu41Lys

Tropomyosin beta chain
Gene: TPM2
Variant information

Variant position:  41
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Glutamate (E) to Lysine (K) at position 41 (E41K, p.Glu41Lys).
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 acidic (E) 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

Involvement in disease:  Nemaline myopathy 4 (NEM4) [MIM:609285]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 4 presents from infancy to childhood with hypotonia and moderate-to-severe proximal weakness with minimal or no progression. Major motor milestones are delayed but independent ambulation is usually achieved, although a wheelchair may be needed in later life. {ECO:0000269|PubMed:11738357, ECO:0000269|PubMed:17846275, ECO:0000269|PubMed:24692096}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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:  In NEM4; also found in a patient with congenital myopathy with fiber-type disproportion and patients with undefined congenital myopathy.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  41
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  284
The length of the canonical sequence.

Location on the sequence:   RAEQAEADKKQAEDRCKQLE  E EQQALQKKLKGTEDEVEKYS
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 1 – 284 Tropomyosin beta chain
Coiled coil 1 – 284
Modified residue 53 – 53 Phosphothreonine
Modified residue 61 – 61 Phosphoserine; by PIK3CG
Alternative sequence 1 – 80 MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATD -> MAGISSIDAVKKKIQSLQQVADEAEERAEHLQREADAERQARER. In isoform 3.


Literature citations

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).
Tajsharghi H.; Ohlsson M.; Lindberg C.; Oldfors A.;
Arch. Neurol. 64:1334-1338(2007)
Cited for: VARIANT NEM4 LYS-41;

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 NEM4 GLY-3; LYS-7 DEL; VAL-14; LYS-41; TRP-133; PRO-143 AND PRO-148; VARIANTS DA1A ARG-93; LYS-117; TRP-133 AND CYS-261; VARIANT CAPM2 GLU-139 DEL; VARIANTS VAL-2; HIS-93; GLU-128; PRO-133; THR-155 AND GLU-218 DEL; PHOSPHORYLATION AT THR-53; THR-79; THR-108; SER-158; SER-206; THR-252; THR-282 AND SER-283;

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.