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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95248: Variant p.Thr1565Ala

Myotubularin-related protein 5
Gene: SBF1
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Variant information Variant position: help 1565 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 Threonine (T) to Alanine (A) at position 1565 (T1565A, p.Thr1565Ala). 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 polar (T) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 CMT4B3. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1565 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1868 The length of the canonical sequence.
Location on the sequence: help RRGQVPCRSVWEYVDRLSKR T PVFHNYMYAPEDAEVLRPYS 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                         RRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYS

Mouse                         RRGQLACKSVWEYVDRLSKRTPMFYNYTYAPEDTEVLRPYS

Caenorhabditis elegans        LPDNLATINVWEFIKLRNRVSAAFYNELYE-QIGDIVIPSS
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 – 1868 Myotubularin-related protein 5
Domain 1121 – 1597 Myotubularin phosphatase



Literature citations
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.
Nakhro K.; Park J.M.; Hong Y.B.; Park J.H.; Nam S.H.; Yoon B.R.; Yoo J.H.; Koo H.; Jung S.C.; Kim H.L.; Kim J.Y.; Choi K.G.; Choi B.O.; Chung K.W.;
Neurology 81:165-173(2013)
Cited for: VARIANTS CMT4B3 VAL-418 AND ALA-1565;
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.