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UniProtKB/Swiss-Prot Q9NSK7: Variant p.Gln96Pro

Protein C19orf12
Gene: C19orf12
Variant information

Variant position:  96
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  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:  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:  -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

Involvement in disease:  Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA4 results in speech difficulty, extrapyramidal signs, oromandibular and generalized dystonia, and parkinsonism. Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses. {ECO:0000269|PubMed:21981780, ECO:0000269|PubMed:22508347, ECO:0000269|PubMed:22584950, ECO:0000269|PubMed:22704260, ECO:0000269|PubMed:23269600, ECO:0000269|PubMed:23278385, ECO:0000269|PubMed:23521069, ECO:0000269|PubMed:23857908, ECO:0000269|PubMed:25592411, ECO:0000269|PubMed:26136767, ECO:0000269|PubMed:26187298}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  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:  96
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  152
The length of the canonical sequence.

Location on the sequence:   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: 
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:  
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.