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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BQ52: Variant p.Leu423Phe

Zinc phosphodiesterase ELAC protein 2
Gene: ELAC2
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Variant information Variant position: help 423 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 Leucine (L) to Phenylalanine (F) at position 423 (L423F, p.Leu423Phe). 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 (L) to large size and aromatic (F) 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 COXPD17. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 423 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 826 The length of the canonical sequence.
Location on the sequence: help FRCKKEGPTLSVPMVQGECL L KYQLRPRREWQRDAIITCNP 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                         FR------CKKEGPTLSVPMVQGECLLKYQLRPRREWQRDAI----ITCNP

Gorilla                       FP------CKKEGPTLSVPMVQGECLLKYQLRPRREWQRDA

Chimpanzee                    FP------CKKEGPTLSVPMVQGECLLKYQLRPRREWQRDA

Mouse                         FY------SKEEGSTLSVPTVRGECLLKYQLRPKREWQRDT

Rat                           FH------SKEEGSTFSLPTVRGECLLKYHVRPKREWQRDT

Caenorhabditis elegans        IDWSGIITQNEELSQRQDQFIRVAPMQRYWMRRGASFNEEP

Fission yeast                 LD------TQTQLPENTYVLKEETSMVLYD-----------
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 17 – 826 Zinc phosphodiesterase ELAC protein 2



Literature citations
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.
Haack T.B.; Kopajtich R.; Freisinger P.; Wieland T.; Rorbach J.; Nicholls T.J.; Baruffini E.; Walther A.; Danhauser K.; Zimmermann F.A.; Husain R.A.; Schum J.; Mundy H.; Ferrero I.; Strom T.M.; Meitinger T.; Taylor R.W.; Minczuk M.; Mayr J.A.; Prokisch H.;
Am. J. Hum. Genet. 93:211-223(2013)
Cited for: VARIANTS COXPD17 LEU-154; PHE-423 AND ILE-520;
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.