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UniProtKB/Swiss-Prot Q0VAK6: Variant p.Gly326Arg

Leiomodin-3
Gene: LMOD3
Variant information

Variant position:  326
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 Glycine (G) to Arginine (R) at position 326 (G326R, p.Gly326Arg).
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 glycine (G) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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 10 (NEM10) [MIM:616165]: An autosomal recessive severe 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. NEM10 is characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Additional features include arthrogryposis or congenital contractures, ophthalmoplegia, a history of prematurity, reduced fetal movements, and polyhydramnios. Most patients die of respiratory failure in early infancy. {ECO:0000269|PubMed:25250574}. 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 NEM10.
Any additional useful information about the variant.



Sequence information

Variant position:  326
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  560
The length of the canonical sequence.

Location on the sequence:   LRENRSITTLNIESNFITGK  G IVAIMRCLQFNETLTELRFH
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                         LRENRSITTLNIESNFITGKGIVAIMRCLQFNETLTELRFH

Mouse                         LRENRSVTTLNIESNFITGKGIVAIMRCLQFNETLTELRFH

Zebrafish                     LKENRSITTLNIESNFITGKGIVAIIRCLQFNETLTELRFH

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 – 560 Leiomodin-3


Literature citations

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
Yuen M.; Sandaradura S.A.; Dowling J.J.; Kostyukova A.S.; Moroz N.; Quinlan K.G.; Lehtokari V.L.; Ravenscroft G.; Todd E.J.; Ceyhan-Birsoy O.; Gokhin D.S.; Maluenda J.; Lek M.; Nolent F.; Pappas C.T.; Novak S.M.; D'Amico A.; Malfatti E.; Thomas B.P.; Gabriel S.B.; Gupta N.; Daly M.J.; Ilkovski B.; Houweling P.J.; Davidson A.E.; Swanson L.C.; Brownstein C.A.; Gupta V.A.; Medne L.; Shannon P.; Martin N.; Bick D.P.; Flisberg A.; Holmberg E.; Van den Bergh P.; Lapunzina P.; Waddell L.B.; Sloboda D.D.; Bertini E.; Chitayat D.; Telfer W.R.; Laquerriere A.; Gregorio C.C.; Ottenheijm C.A.; Boennemann C.G.; Pelin K.; Beggs A.H.; Hayashi Y.K.; Romero N.B.; Laing N.G.; Nishino I.; Wallgren-Pettersson C.; Melki J.; Fowler V.M.; MacArthur D.G.; North K.N.; Clarke N.F.;
J. Clin. Invest. 124:4693-4708(2014)
Cited for: FUNCTION; INTERACTION WITH TPM1/2; TISSUE SPECIFICITY; DEVELOPMENTAL STAGE; VARIANT NEM10 ARG-326;

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.