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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13496: Variant p.Glu404Lys

Myotubularin
Gene: MTM1
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Variant information Variant position: help 404 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Glutamate (E) to Lysine (K) at position 404 (E404K, p.Glu404Lys). 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: help 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: help 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: help In CNMX; mild. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 404 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 603 The length of the canonical sequence.
Location on the sequence: help QLTSLAMLMLDSFYRSIEGF E ILVQKEWISFGHKFASRIGH 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         QLTSLAMLMLDSFYRSIEGFEILVQKEWISFGHKFASRIGH

Mouse                         QLTSLAMLMLDSFYRTIEGFEILVQKEWISFGHKFASRIGH

Rat                           QLTTLAMLMLDGFYRSIEGFEILVQKEWISFGHKFSSRIGH

Bovine                        QLTSLAMLMLDSFYRSIEGFEILVQKEWISFGHKFASRIGH

Xenopus laevis                QLTSLAMLMLDSYYRTIVGFEVLVQKEWISFGHKFSSRIGH

Xenopus tropicalis            QLTSLAMLMLDSYYRTIVGFEVLVQKEWISFGHKFSSRIGH

Baker's yeast                 TRWQISMM---------------------------------
Sequence annotation in neighborhood: help 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 – 603 Myotubularin
Domain 163 – 538 Myotubularin phosphatase
Binding site 417 – 417
Binding site 421 – 421
Binding site 421 – 421
Mutagenesis 394 – 394 D -> A. Produces an unstable protein.
Mutagenesis 410 – 410 E -> A. Produces an unstable protein.
Mutagenesis 420 – 420 S -> D. Does not affect interaction with DES.



Literature citations
Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.
de Gouyon B.M.; Zhao W.; Laporte J.; Mandel J.-L.; Metzenberg A.; Herman G.E.;
Hum. Mol. Genet. 6:1499-1504(1997)
Cited for: VARIANTS CNMX CYS-69; GLY-184; ASN-198; LEU-241; ARG-317; CYS-397; LYS-404; PRO-406; GLN-421 AND ARG-499; Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.
Hoffjan S.; Thiels C.; Vorgerd M.; Neuen-Jacob E.; Epplen J.T.; Kress W.;
Neuromuscul. Disord. 16:749-753(2006)
Cited for: VARIANT CNMX LYS-404;
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.