Variant position: 64 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 128 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 PNTVHQFQLDITVKMGRDKV REMFMKNAHVTDPRVVDLLVI
Gorilla PNTVHQFQLDITVKMGRDKV REMFMKNAHVTDPRVVDLLVI
Chimpanzee PNTVHQFQLDITVKMGRDKV REMFMKNAHVTDPRVVDLLVI
Mouse PNTVHLMQLDITVKQGRDKV REMFMKNAHVTDPRVVDLLVI
Bovine PNTVHLFQLDISVKQGRDKV REMFKKNAHITDPRVVDLLVI
Slime mold PHLIQHYNLSYNMSEMRNRF RSNFVEFEEVTEKNQLDRLAF
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 – 128 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6
56 – 66
Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency.
Alston C.L.; Heidler J.; Dibley M.G.; Kremer L.S.; Taylor L.S.; Fratter C.; French C.E.; Glasgow R.I.C.; Feichtinger R.G.; Delon I.; Pagnamenta A.T.; Dolling H.; Lemonde H.; Aiton N.; Bjoernstad A.; Henneke L.; Gaertner J.; Thiele H.; Tauchmannova K.; Quaghebeur G.; Houstek J.; Sperl W.; Raymond F.L.; Prokisch H.; Mayr J.A.; McFarland R.; Poulton J.; Ryan M.T.; Wittig I.; Henneke M.; Taylor R.W.;
Am. J. Hum. Genet. 103:592-601(2018)
Cited for: FUNCTION; INVOLVEMENT IN MC1DN33; VARIANTS MC1DN33 PRO-64 AND 89-GLU--PRO-128 DEL;
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.