Variant position: 499 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 564 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 WQNLVHEVWTAVIPETEAVR RIVERDGLSEAAAQSRLQSQM
Mouse WQSMVHEVWTVVIPETEAVR RIVERDGLSEAAAQSRLQSQM
Pig WQNMVHEVWTVVIPETEAVR RIVERDGLSEAAAQSRLQSQM
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 – 564 Bifunctional coenzyme A synthase
360 – 563 DPCK
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
Dusi S.; Valletta L.; Haack T.B.; Tsuchiya Y.; Venco P.; Pasqualato S.; Goffrini P.; Tigano M.; Demchenko N.; Wieland T.; Schwarzmayr T.; Strom T.M.; Invernizzi F.; Garavaglia B.; Gregory A.; Sanford L.; Hamada J.; Bettencourt C.; Houlden H.; Chiapparini L.; Zorzi G.; Kurian M.A.; Nardocci N.; Prokisch H.; Hayflick S.; Gout I.; Tiranti V.;
Am. J. Hum. Genet. 94:11-22(2014)
Cited for: FUNCTION; CATALYTIC ACTIVITY; PATHWAY; SUBCELLULAR LOCATION; VARIANTS NBIA6 59-GLN--ASP-564 DEL AND CYS-499; CHARACTERIZATION OF VARIANTS NBIA6 59-GLN--ASP-564 DEL AND CYS-499;
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
Evers C.; Seitz A.; Assmann B.; Opladen T.; Karch S.; Hinderhofer K.; Granzow M.; Paramasivam N.; Eils R.; Diessl N.; Bartram C.R.; Moog U.;
Am. J. Med. Genet. A 173:1878-1886(2017)
Cited for: VARIANTS NBIA6 VAL-214 AND CYS-499;
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.