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UniProtKB/Swiss-Prot Q8N6M3: Variant p.Gly232Arg

Acyl-coenzyme A diphosphatase FITM2
Gene: FITM2
Variant information

Variant position:  232
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Glycine (G) to Arginine (R) at position 232 (G232R, p.Gly232Arg).
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:  Change from glycine (G) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In SIDDIS.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  232
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  262
The length of the canonical sequence.

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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         YFHNLSQKVFGTLFGLLSWYGTYGFWYPKAFSPGLPP------------------------------------------------------------------------------------QSCS







Caenorhabditis elegans        YYHIFIEEILGAVAAVVCWFVTYRMLYP----AGFLA----


Sequence annotation in neighborhood:  
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.

Chain 1 – 262 Acyl-coenzyme A diphosphatase FITM2
Transmembrane 219 – 239 Helical
Active site 214 – 214
Mutagenesis 214 – 214 H -> A. Loss of oleoyl-CoA diphosphatase activity; when associated with A-155. Impaired ER morphology, ER homeostasis and lipid droplet biogenesis. No difference in the appearance of the Golgi apparatus, lysosomes or peroxisomes.

Literature citations

First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome.
Riedhammer K.M.; Leszinski G.S.; Andres S.; Strobl-Wildemann G.; Wagner M.;
Mov. Disord. 33:1665-1666(2018)
Cited for: VARIANT SIDDIS ARG-232;

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.