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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UQN3: Variant p.Ile29Val

Charged multivesicular body protein 2b
Gene: CHMP2B
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Variant information Variant position: help 29 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 Valine (V) at position 29 (I29V, p.Ile29Val). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 3 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 FTDALS7; cells expressing the mutant protein have large cytoplasmic vacuoles with an accumulation of the mutant protein on the outer membrane termed halos; cells with the mutant protein also have aberrant localization of CD63 and an increase in MAP1LC3A1 overall indicating a defect in the autophagic pathway. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 29 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 213 The length of the canonical sequence.
Location on the sequence: help TVDDVIKEQNRELRGTQRAI I RDRAALEKQEKQLELEIKKM 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                         TVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQLELEIKKM

Mouse                         TVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQLELEIKKM

Bovine                        TVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQLELEIKKM

Chicken                       TVDDIIKEQNRELRGTQRTITRDRAALEKQERQLELEIKKM

Xenopus tropicalis            TVDDIIREQNKELRGTQRAITRDRAALEKQEKQLEMEIKKM

Zebrafish                     TVDDVIKEQNKELRGTQRQIARDRTALEKQEKQLEMEIKKM

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 2 – 213 Charged multivesicular body protein 2b
Coiled coil 25 – 55
Alternative sequence 1 – 42 MASLFKKKTVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQL -> M. In isoform 2.



Literature citations
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
Parkinson N.; Ince P.G.; Smith M.O.; Highley R.; Skibinski G.; Andersen P.M.; Morrison K.E.; Pall H.S.; Hardiman O.; Collinge J.; Shaw P.J.; Fisher E.M.;
Neurology 67:1074-1077(2006)
Cited for: VARIANT FTDALS7 HIS-206; VARIANT VAL-29; Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).
Cox L.E.; Ferraiuolo L.; Goodall E.F.; Heath P.R.; Higginbottom A.; Mortiboys H.; Hollinger H.C.; Hartley J.A.; Brockington A.; Burness C.E.; Morrison K.E.; Wharton S.B.; Grierson A.J.; Ince P.G.; Kirby J.; Shaw P.J.;
PLoS ONE 5:E9872-E9872(2010)
Cited for: VARIANTS FTDALS7 VAL-29; ASN-104 AND HIS-206; CHARACTERIZATION OF VARIANTS FTDALS7 VAL-29; ASN-104 AND HIS-206;
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.