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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NSK7: Variant p.Gly47Ser

Protein C19orf12
Gene: C19orf12
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Variant information Variant position: help 47 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 Glycine (G) to Serine (S) at position 47 (G47S, p.Gly47Ser). 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 glycine (G) to small size and polar (S) 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 NBIA4; predominantly cytosolic distribution with a localization also seen in the mitochondrial matrix; no cytosolic redistribution seen in response to oxidative stress; patient fibroblasts accumulate high levels of mitochondrial calcium and are more prone to oxidative stress-induced apoptosis. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 47 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 141 The length of the canonical sequence.
Location on the sequence: help HSGKGALVTGAMAFVGGLVG G PPGLAVGGAVGGLLGAWMTS 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                         HSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTS

Mouse                         HSGKGAMVAGAMAFVGGLVGGPPGIAVGGTVGGLLGAWMTS

Bovine                        HSGRGALVTGAVAFVGGLVGGPPGLAVGGAVGGLLGAWMTS

Xenopus tropicalis            HSARGALVAAAGAFLGGLVGGPPGIAVGGAVGGAMGAWMTS

Zebrafish                     QSGKGAAAAGGLAFAGGLIGGPLGIAVGGAVGGLLGCWMKS
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 – 141 Protein C19orf12
Transmembrane 40 – 60 Helical
Alternative sequence 1 – 64 Missing. In isoform 2.



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-47 AND PRO-85; 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-47 AND PRO-85; 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.