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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NSK7: Variant p.Gln96Pro

Protein C19orf12
Gene: C19orf12
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Variant information Variant position: help 96 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 Glutamine (Q) to Proline (P) at position 96 (Q96P, p.Gln96Pro). 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 polar (Q) to medium size and hydrophobic (P) 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 NBIA4; no effect on its subcellular localization; no cytosolic redistribution seen in response to oxidative stress. Any additional useful information about the variant.


Sequence information Variant position: help 96 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 152 The length of the canonical sequence.
Location on the sequence: help MTSGQFKPVPQILMELPPAE Q QRLFNEAAAIIRHLEWTDAV 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                         MTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAV

Mouse                         MTSGQFKPVPQILMELPPAEQRKLVNEAMAIIGNLDWTDAV

Bovine                        MTSGQFKPVPQIIMELPPAEQQKLFNEATAIIRHLEWTDAV

Xenopus tropicalis            MTSGQFKPIPQIIMELPPVQQQRLCDDIYTIVRTLDWTDAT

Zebrafish                     MKSGQFKPLPQVIMELTPDQQARLYEDIVAILGSITWTDVA
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 – 152 Protein C19orf12



Literature citations
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.
Panteghini C.; Zorzi G.; Venco P.; Dusi S.; Reale C.; Brunetti D.; Chiapparini L.; Zibordi F.; Siegel B.; Siegel B.; Garavaglia B.; Simonati A.; Bertini E.; Nardocci N.; Tiranti V.;
Semin. Pediatr. Neurol. 19:75-81(2012)
Cited for: VARIANTS NBIA4 SER-58 AND PRO-96; Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca(2)(+).
Venco P.; Bonora M.; Giorgi C.; Papaleo E.; Iuso A.; Prokisch H.; Pinton P.; Tiranti V.;
Front. Genet. 6:185-185(2015)
Cited for: CHARACTERIZATION OF VARIANTS NBIA4 SER-58 AND PRO-96; SUBCELLULAR LOCATION;
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.