Variant position: 122 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 184 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 FSLFWLLEPRIEIVVVGTGD RTERLQSQVLQAMRQRGIAVE
Mouse FSLFWMLEPRIEIVVVGTGN KTERLHPQVLQAMRQRGIAVE
Rat FSIFWMLEPRIEIVVVGTGN KTERLHSQVLQAMRQRGIAVE
Bovine FSLFWMLEPRIEIVVVGTGD RTERLQPHVLRAMRQRGIAVE
Xenopus tropicalis LSLFHMLSPRIEILVVGTGD RVERLDPNILKFMRQKGVAVE
Zebrafish LSLFYLLEPQIEVLVLGTGA RTERLHAEVLEELKKRGIAVE
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 – 184 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Saada A.; Vogel R.O.; Hoefs S.J.; van den Brand M.A.; Wessels H.J.; Willems P.H.; Venselaar H.; Shaag A.; Barghuti F.; Reish O.; Shohat M.; Huynen M.A.; Smeitink J.A.M.; van den Heuvel L.P.; Nijtmans L.G.;
Am. J. Hum. Genet. 84:718-727(2009)
Cited for: FUNCTION; INTERACTION WITH NDUFAF4; NDUFS2 AND NDUFS3; SUBCELLULAR LOCATION; INVOLVEMENT IN MC1DN18; VARIANTS MC1DN18 ARG-77 AND PRO-122;
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.