Variant position: 77 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 210 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 RTLLWTELFRGLGMTLSYLF REPATINYPFEKGPLSPRFRG
Gorilla RTLLWTELFRGLGMTLSYLF REPATINYPFEKGPLSPRFRG
Chimpanzee RTLLWTELFRGLGMTLSYLF REPATINYPFEKGPLSPRFRG
Mouse RILMWTELIRGLGMTLSYLF REPATINYPFEKGPLSPRFRG
Bovine QTLLWTELIRGLGMTLSYLF REPATINYPFEKGPLSPRFRG
Caenorhabditis elegans HNVFFTELFRGFGVMLGHVF MEPATINYPFEKGPLSSRFRG
Drosophila STMFFGELLRGFAVTLAHIF KEPATINYPFEKGPLSPRFRG
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 – 210 NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Haack T.B.; Haberberger B.; Frisch E.M.; Wieland T.; Iuso A.; Gorza M.; Strecker V.; Graf E.; Mayr J.A.; Herberg U.; Hennermann J.B.; Klopstock T.; Kuhn K.A.; Ahting U.; Sperl W.; Wilichowski E.; Hoffmann G.F.; Tesarova M.; Hansikova H.; Zeman J.; Plecko B.; Zeviani M.; Wittig I.; Strom T.M.; Schuelke M.; Freisinger P.; Meitinger T.; Prokisch H.;
J. Med. Genet. 49:277-283(2012)
Cited for: VARIANTS MC1DN2 GLN-63; TRP-77 AND ASP-159; CHARACTERIZATION OF VARIANTS MC1DN2 GLN-63; TRP-77 AND ASP-159; FUNCTION; CATALYTIC ACTIVITY;
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.