UniProtKB/Swiss-Prot Q9H0R6: Variant p.Ala427Leu

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 427 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: US 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 Alanine (A) to Leucine (L) at position 427 (A427L, p.Ala427Leu). 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 small size and hydrophobic (A) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -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: In COXPD40; uncertain significance; requires 2 nucleotide substitutions. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs1562173313 [ dbSNP | Ensembl ]

Sequence information

Variant position: 427 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 528 The length of the canonical sequence.
Location on the sequence: FVNAFNSGVDVLLTPTTLSE A VPYLEFIKEDNRTRSAQDDI 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.
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.

Type	Positions	Description
Chain	1 – 528	Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial
Alternative sequence	305 – 528	Missing. In isoform 2.

Literature citations

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Friederich M.W.; Timal S.; Powell C.A.; Dallabona C.; Kurolap A.; Palacios-Zambrano S.; Bratkovic D.; Derks T.G.J.; Bick D.; Bouman K.; Chatfield K.C.; Damouny-Naoum N.; Dishop M.K.; Falik-Zaccai T.C.; Fares F.; Fedida A.; Ferrero I.; Gallagher R.C.; Garesse R.; Gilberti M.; Gonzalez C.; Gowan K.; Habib C.; Halligan R.K.; Kalfon L.; Knight K.; Lefeber D.; Mamblona L.; Mandel H.; Mory A.; Ottoson J.; Paperna T.; Pruijn G.J.M.; Rebelo-Guiomar P.F.; Saada A.; Sainz B. Jr.; Salvemini H.; Schoots M.H.; Smeitink J.A.; Szukszto M.J.; Ter Horst H.J.; van den Brandt F.; van Spronsen F.J.; Veltman J.A.; Wartchow E.; Wintjes L.T.; Zohar Y.; Fernandez-Moreno M.A.; Baris H.N.; Donnini C.; Minczuk M.; Rodenburg R.J.; Van Hove J.L.K.;
Nat. Commun. 9:4065-4065(2018)
Cited for: VARIANTS COXPD40 VAL-133; 185-TYR--GLN-528 DEL; 196-THR--PRO-199 DELINS ASN-LYS-ASN-HIS AND LEU-427;