Variant position: 185 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 254 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 DFQQGCAKTLYHSVHEKIFT LPGDCLIYPAHDYHGFTVSTV
Mouse DFQQGCAKTLYHSVHEKIFT LPGNCLIYPAHDYHGLTVSTV
Bovine DFQQGCAETLYHSVHEKIFT LPGNCLIYPAHDYHGLTVSTV
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
8 – 254 Persulfide dioxygenase ETHE1, mitochondrial
172 – 172 N6-acetyllysine; alternate
172 – 172 N6-succinyllysine; alternate
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
Tiranti V.; D'Adamo P.; Briem E.; Ferrari G.; Mineri R.; Lamantea E.; Mandel H.; Balestri P.; Garcia-Silva M.-T.; Vollmer B.; Rinaldo P.; Hahn S.H.; Leonard J.; Rahman S.; Dionisi-Vici C.; Garavaglia B.; Gasparini P.; Zeviani M.;
Am. J. Hum. Genet. 74:239-252(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; FUNCTION; ABSENCE OF GLYOXALASE II ACTIVITY; VARIANTS EE CYS-38; ALA-136; TRP-163 AND ARG-185;
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
Mineri R.; Rimoldi M.; Burlina A.B.; Koskull S.; Perletti C.; Heese B.; von Dobeln U.; Mereghetti P.; Di Meo I.; Invernizzi F.; Zeviani M.; Uziel G.; Tiranti V.;
J. Med. Genet. 45:473-478(2008)
Cited for: VARIANTS EE PRO-55; ALA-136; ILE-152; GLN-163; TRP-163; LYS-164; ARG-185 AND ASN-196; CHARACTERIZATION OF VARIANTS EE PRO-55 AND LYS-164;
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.