Variant position: 96 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 371 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 RLMRLDKPIGTWLLYLPCTW SIGLAA---EPGCFPDWYMLSLFG
Mouse RLMRLDKPIGTWLLYLPCTW SIGLAA---DPGCFPDWYMLS
Rat RLMRLDKPIGTWLLYLPCTW SIGLAA---DPGCFPDWYMLS
Bovine RLMRLDKPIGTWLLYLPCTW SIGLAA---DPGCLPDWYMLS
Caenorhabditis elegans QLMRVDKPIGTWLLYWPCTW SIAMAT---PAGQLPSIYMLS
Drosophila QLMRIDRPIGTYLLFWPCAW SIALSA---DAGCWPDLTMLG
Slime mold RLSRVDKPIGVWLLLYPCCW SISLAA---PAGSFPDLKTML
Baker's yeast ELMRLEKPVGTWLLYLPCSW SILMGAMMQGATLSATAGMLG
Fission yeast EISRAGSPTGTYLLYSPCTW SILMAAYAYDSSLVNVTKMLA
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
35 – 371 4-hydroxybenzoate polyprenyltransferase, mitochondrial
84 – 104 Helical
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats M.A.; Morbidoni V.; Silic-Benussi M.; Doimo M.; Ciminale V.; Cassina M.; Sacconi S.; Hirano M.; Basso G.; Pierrel F.; Navas P.; Salviati L.; Trevisson E.;
Hum. Mol. Genet. 25:4256-4265(2016)
Cited for: FUNCTION; SUBCELLULAR LOCATION; TOPOLOGY; CHARACTERIZATION OF VARIANTS COQ10D1 VAL-78; ASN-96; ARG-132; HIS-147; SER-178; CYS-247 AND VAL-252;
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
Diomedi-Camassei F.; Di Giandomenico S.; Santorelli F.M.; Caridi G.; Piemonte F.; Montini G.; Ghiggeri G.M.; Murer L.; Barisoni L.; Pastore A.; Muda A.O.; Valente M.L.; Bertini E.; Emma F.;
J. Am. Soc. Nephrol. 18:2773-2780(2007)
Cited for: VARIANTS COQ10D1 ASN-96; HIS-147; SER-178 AND CYS-247;
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.