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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13496: Variant p.Trp230Cys

Myotubularin
Gene: MTM1
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Variant information Variant position: help 230 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 Tryptophan (W) to Cysteine (C) at position 230 (W230C, p.Trp230Cys). 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 large size and aromatic (W) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In CNMX. Any additional useful information about the variant.


Sequence information Variant position: help 230 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 DDDLRRVATFRSRNRIPVLS W IHPENKTVIVRCSQPLVGMS 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                         DDDLRRVATFRSRNRIPVLSWIHPENKTVIVRCSQPLVGMS

Mouse                         DDDLRRIATFRSRNRLPVLSWIHPENKMVIMRCSQPLVGMS

Rat                           DDDLRRVATFRSRNRIPVLSWIHPENRAAIMRCSQPLVGVG

Bovine                        DEDLRRVATFRSRNRIPVLSWIHPENKTVIVRCSQPLVGMS

Xenopus laevis                EEDLKRVAAFRSRNRIPVLSWLHPENQSAIMRCSQPLVGMS

Xenopus tropicalis            EEDLKKVAAFRSRNRIPVLSWLHPENQSAIMRCSQPLVGMS

Baker's yeast                 ------IARVFAATSIAPLELVKTKLQSI------------
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
Mutagenesis 220 – 220 R -> A. Loss of activity.



Literature citations
Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.
Tanner S.M.; Schneider V.; Thomas N.S.T.; Clarke A.; Lazarou L.; Liechti-Gallati S.;
Neuromuscul. Disord. 9:41-49(1999)
Cited for: VARIANTS CNMX LEU-205; THR-225; CYS-230; ARG-232; CYS-241; ARG-402 AND TYR-444; Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
Biancalana V.; Caron O.; Gallati S.; Baas F.; Kress W.; Novelli G.; D'Apice M.R.; Lagier-Tourenne C.; Buj-Bello A.; Romero N.B.; Mandel J.-L.;
Hum. Genet. 112:135-142(2003)
Cited for: VARIANTS CNMX LYS-47 DEL; ASP-68; PRO-69; SER-69; PHE-70; LYS-180; LEU-184; SER-202; LEU-205; THR-226; CYS-230; CYS-241; CYS-346; GLY-364; ASP-389; CYS-397; GLN-421; PRO-469; PRO-470 AND TYR-481;
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.