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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92562: Variant p.Ile41Thr

Polyphosphoinositide phosphatase
Gene: FIG4
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Variant information Variant position: help 41 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 Isoleucine (I) to Threonine (T) at position 41 (I41T, p.Ile41Thr). 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 hydrophobic (I) to medium size and polar (T) 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 CMT4J; the mutant protein is unstable; low levels of the protein results from impaired interaction with VAC14. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 41 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 907 The length of the canonical sequence.
Location on the sequence: help RARYFLVGSNNAETKYRVLK I DRTEPKDLVIIDDRHVYTQQ 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                         RARYFLVGSNNAETKYRVLKIDRTEPK-DLVIIDDRHVYTQQ

Mouse                         RARYFLVGSNHAETKYRVLKIDRTEPK-DLVVIDDRHVYTQ

Baker's yeast                 KDRMYIVGSNKRETMFRILEIDLTVPRGELTVLEDNVFFTR

Fission yeast                 KKCYYIVSENATATIFRILKITQSEDELSISIEEAAKILFR
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 – 907 Polyphosphoinositide phosphatase



Literature citations
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Chow C.Y.; Zhang Y.; Dowling J.J.; Jin N.; Adamska M.; Shiga K.; Szigeti K.; Shy M.E.; Li J.; Zhang X.; Lupski J.R.; Weisman L.S.; Meisler M.H.;
Nature 448:68-72(2007)
Cited for: VARIANT CMT4J THR-41; Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P(2) phosphatase FIG4.
Nicholson G.; Lenk G.M.; Reddel S.W.; Grant A.E.; Towne C.F.; Ferguson C.J.; Simpson E.; Scheuerle A.; Yasick M.; Hoffman S.; Blouin R.; Brandt C.; Coppola G.; Biesecker L.G.; Batish S.D.; Meisler M.H.;
Brain 134:1959-1971(2011)
Cited for: VARIANTS CMT4J PRO-17; THR-41 AND LYS-302; CHARACTERIZATION OF VARIANT CMT4J LYS-302; Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.
Lenk G.M.; Ferguson C.J.; Chow C.Y.; Jin N.; Jones J.M.; Grant A.E.; Zolov S.N.; Winters J.J.; Giger R.J.; Dowling J.J.; Weisman L.S.; Meisler M.H.;
PLoS Genet. 7:E1002104-E1002104(2011)
Cited for: CHARACTERIZATION OF VARIANT CMT4J THR-41;
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.