UniProtKB/SwissProt variant VAR

Complex I assembly factor ACAD9, mitochondrial
Gene: ACAD9
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Variant information Variant position:

469
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Tryptophan (W) at position 469 (R469W, p.Arg469Trp).
Physico-chemical properties:

Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score:

-3
Variant description:

In MC1DN20.
Other resources:

Variant rs139145143 [ dbSNP | Ensembl ]

Sequence information Variant position:

469
Protein sequence length:

621
Location on the sequence:

TTRIHELKQAKVSTVMDTVG R RLRDSLGRTVDLGLTGNHGV
Residue conservation:

Human                         TTRIHELKQAKVSTVMDTVGRRLRDSLGRTVDLGLTGNHGV

Mouse                         TSRIKELKSGNVTTVMETIGRKLRDSLGRTVDLGLTGDLGV

Rat                           TSRIKELKSGNVTTVMETIGRKLRDSLGRTVDLGLSSNIAV

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	38 – 621	Complex I assembly factor ACAD9, mitochondrial
Modified residue	478 – 478	Phosphothreonine

Literature citations
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.
Gerards M.; van den Bosch B.J.; Danhauser K.; Serre V.; van Weeghel M.; Wanders R.J.; Nicolaes G.A.; Sluiter W.; Schoonderwoerd K.; Scholte H.R.; Prokisch H.; Rotig A.; de Coo I.F.; Smeets H.J.;
Brain 134:210-219(2011)
Cited for: VARIANTS MC1DN20 LYS-127; TRP-469 AND TRP-532;

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 Q9H845: Variant p.Arg469Trp