UniProtKB/SwissProt variant VAR

Glutaryl-CoA dehydrogenase, mitochondrial
Gene: GCDH
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Variant information Variant position:

268
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Valine (V) at position 268 (G268V, p.Gly268Val).
Physico-chemical properties:

Change from glycine (G) to medium size and hydrophobic (V)
BLOSUM score:

-3
Variant description:

In GA1.
Other resources:

Variant rs765723076 [ dbSNP | Ensembl ]

Sequence information Variant position:

268
Protein sequence length:

438
Location on the sequence:

PRIQGKFSLRASATGMIIMD G VEVPEENVLPGASSLGGPFG
Residue conservation:

Human                         PRIQGKFSLRASATGMIIMDGVEVPEENVLPGASSLGGPFG

Mouse                         PRIEGKFSLRASATGMIIMDSVEVPEENVLPNVSSLAGPFG

Bovine                        PRIEGKFSLRASSTGMIIMDDVEVPEENVLPGVSGLAGPFG

Caenorhabditis elegans        PKIEGKLSLRASITGQIAMDDVPVPEENLLPNAEGLQGPFG

Slime mold                    PKIEGKLSLRASITGMIVMEDVEVPPTAMFPEVKGLRGPFS

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	45 – 438	Glutaryl-CoA dehydrogenase, mitochondrial
Beta strand	261 – 272

Literature citations
Molecular analysis of Cypriot patients with Glutaric aciduria type I: Identification of two novel mutations.
Georgiou T.; Nicolaidou P.; Hadjichristou A.; Ioannou R.; Dionysiou M.; Siama E.; Chappa G.; Anastasiadou V.; Drousiotou A.;
Clin. Biochem. 47:1300-1305(2014)
Cited for: VARIANTS GA1 ASP-64; VAL-268; ARG-375; TRP-402 AND MET-429;

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 Q92947: Variant p.Gly268Val