UniProtKB/SwissProt variant VAR

Mitochondrial inner membrane m-AAA protease component AFG3L2
Gene: AFG3L2
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Variant information Variant position:

694
Type of variant:

LP/P [Disclaimer]
Residue change:

From Alanine (A) to Glutamate (E) at position 694 (A694E, p.Ala694Glu).
Physico-chemical properties:

Change from small size and hydrophobic (A) to medium size and acidic (E)
BLOSUM score:

-1
Variant description:

In SCA28.
Other resources:

Variant rs151344521 [ dbSNP | Ensembl ]

Sequence information Variant position:

694
Protein sequence length:

797
Location on the sequence:

SFDLPRQGDMVLEKPYSEAT A RLIDDEVRILINDAYKRTVA
Residue conservation:

Human                         SFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVA

Mouse                         SFDLPRQGDMVLEKPYSEATARMIDDEVRILISDAYRRTVA

Bovine                        SFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVA

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	67 – 797	Mitochondrial inner membrane m-AAA protease component AFG3L2
Topological domain	272 – 797	Mitochondrial matrix
Helix	691 – 718

Literature citations
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Di Bella D.; Lazzaro F.; Brusco A.; Plumari M.; Battaglia G.; Pastore A.; Finardi A.; Cagnoli C.; Tempia F.; Frontali M.; Veneziano L.; Sacco T.; Boda E.; Brussino A.; Bonn F.; Castellotti B.; Baratta S.; Mariotti C.; Gellera C.; Fracasso V.; Magri S.; Langer T.; Plevani P.; Di Donato S.; Muzi-Falconi M.; Taroni F.;
Nat. Genet. 42:313-321(2010)
Cited for: VARIANTS SCA28 THR-432; LYS-691; GLU-694 AND GLN-702; TISSUE SPECIFICITY;

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 Q9Y4W6: Variant p.Ala694Glu