Variant position: 3 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 175 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 MG--- ALVIRGIRNFNLENRAEREIS
Mouse MG--- ARVTRALRNFNVEKRAER
Rat MG--- ARMTRAFRNFNVEKRAEQ
Bovine MG--- AAVARAVRNFNLENRAER
Drosophila MGQVV SMVARRANRFNVENRAHR
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 – 1 Removed
2 – 175 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
2 – 2 N-myristoyl glycine
NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.
Baertling F.; Sanchez-Caballero L.; van den Brand M.A.M.; Wintjes L.T.; Brink M.; van den Brandt F.A.; Wilson C.; Rodenburg R.J.T.; Nijtmans L.G.J.;
Eur. J. Hum. Genet. 25:1273-1277(2017)
Cited for: FUNCTION; INVOLVEMENT IN MC1DN15; VARIANT MC1DN15 PRO-3; CHARACTERIZATION OF VARIANT MC1DN15 PRO-3;
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.