UniProtKB/SwissProt variant VAR

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6
Gene: NDUFA6
Feedback?

Variant information Variant position:

64
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Proline (P) at position 64 (R64P, p.Arg64Pro).
Physico-chemical properties:

Change from large size and basic (R) to medium size and hydrophobic (P)
BLOSUM score:

-2
Variant description:

In MC1DN33.

Sequence information Variant position:

64
Protein sequence length:

128
Location on the sequence:

PNTVHQFQLDITVKMGRDKV R EMFMKNAHVTDPRVVDLLVI
Residue conservation:

Human                         PNTVHQFQLDITVKMGRDKVREMFMKNAHVTDPRVVDLLVI

Gorilla                       PNTVHQFQLDITVKMGRDKVREMFMKNAHVTDPRVVDLLVI

Chimpanzee                    PNTVHQFQLDITVKMGRDKVREMFMKNAHVTDPRVVDLLVI

Mouse                         PNTVHLMQLDITVKQGRDKVREMFMKNAHVTDPRVVDLLVI

Bovine                        PNTVHLFQLDISVKQGRDKVREMFKKNAHITDPRVVDLLVI

Slime mold                    PHLIQHYNLSYNMSEMRNRFRSNFVEFEEVTEKNQLDRLAF

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 128	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6
Helix	56 – 66

Literature citations
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;

Disclaimer: 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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P56556: Variant p.Arg64Pro