UniProtKB/SwissProt variant VAR

Coiled-coil-helix-coiled-coil-helix domain-containing protein 2
Gene: CHCHD2
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Variant information Variant position:

49
Type of variant:

LB/B
Residue change:

From Alanine (A) to Valine (V) at position 49 (A49V, p.Ala49Val).
Physico-chemical properties:

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

0
Polymorphism:

Mutations in CHCHD2 are rare, and might vary by ethnic origin.
Variant description:

May influence risk for Lewy body disorders.
Other resources:

Variant rs151213700 [ dbSNP | Ensembl ]

Sequence information Variant position:

49
Protein sequence length:

151
Location on the sequence:

APVAQPPAAAPPSAVGSSAA A PRQPGLMAQMATTAAGVAVG
Residue conservation:

Human                         APVAQPPAAAPPSAVGSSAAAPRQPGLMAQMATTAAGVAVG

Mouse                         APAAQPPAAAAPSAVGSPAAAPRQPGLMAQMATTAAGVAVG

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 151	Coiled-coil-helix-coiled-coil-helix domain-containing protein 2
Region	1 – 50	Disordered

Literature citations
Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.
Ogaki K.; Koga S.; Heckman M.G.; Fiesel F.C.; Ando M.; Labbe C.; Lorenzo-Betancor O.; Moussaud-Lamodiere E.L.; Soto-Ortolaza A.I.; Walton R.L.; Strongosky A.J.; Uitti R.J.; McCarthy A.; Lynch T.; Siuda J.; Opala G.; Rudzinska M.; Krygowska-Wajs A.; Barcikowska M.; Czyzewski K.; Puschmann A.; Nishioka K.; Funayama M.; Hattori N.; Parisi J.E.; Petersen R.C.; Graff-Radford N.R.; Boeve B.F.; Springer W.; Wszolek Z.K.; Dickson D.W.; Ross O.A.;
Neurology 85:2016-2025(2015)
Cited for: VARIANTS LEU-2; ARG-4; SER-14; LEU-34; VAL-37; VAL-49 AND VAL-93;

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 Q9Y6H1: Variant p.Ala49Val