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:
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 MTSGQFKPVPQILMELPPAE QQRLFNEAAAIIRHLEWTDAV
Mouse MTSGQFKPVPQILMELPPAE QRKLVNEAMAIIGNLDWTDAV
Bovine MTSGQFKPVPQIIMELPPAE QQKLFNEATAIIRHLEWTDAV
Xenopus tropicalis MTSGQFKPIPQIIMELPPVQ QQRLCDDIYTIVRTLDWTDAT
Zebrafish MKSGQFKPLPQVIMELTPDQ QARLYEDIVAILGSITWTDVA
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
1 – 152 Protein C19orf12
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;
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.