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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92947: Variant p.Gly390Arg

Glutaryl-CoA dehydrogenase, mitochondrial
Gene: GCDH
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Variant information Variant position: help 390
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 390 (G390R, p.Gly390Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In GA1.
Other resources: help


Sequence information Variant position: help 390
Protein sequence length: help 438
Location on the sequence: help LKRNNCGKALDIARQARDML G GNGISDEYHVIRHAMNLEAV
Residue conservation: help 
Human                         LKRNNCGKALDIARQARDMLGGNGISDEYHVIRHAMNLEAV

Mouse                         LKRNNCGKALDIARQARDILGGNGISDEYHVIRHAMNLEAV

Bovine                        LKRNNCGKALDIARQARDMLGGNGISDEYHVIRHVMNLESV

Caenorhabditis elegans        IKRNSCGKALEVARKARDMLGGNGIVDEYHIMRHMVNLETV

Slime mold                    IKRNSCGKSLDIARQSRDMLGGNGIADEYHVIRHAANLETV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 45 – 438 Glutaryl-CoA dehydrogenase, mitochondrial
Binding site 387 – 391
Helix 389 – 394



Literature citations
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
Anikster Y.; Shaag A.; Joseph A.; Mandel H.; Ben-Zeev B.; Christensen E.; Elpeleg O.N.;
Am. J. Hum. Genet. 59:1012-1018(1996)
Cited for: VARIANTS GA1 ARG-101; PRO-283; THR-293; LEU-305; ARG-390 AND ILE-416;
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.