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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P36776: Variant p.Ala670Val

Lon protease homolog, mitochondrial
Gene: LONP1
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Variant information Variant position: help 670
Type of variant: help LP/P [Disclaimer]
Residue change: help From Alanine (A) to Valine (V) at position 670 (A670V, p.Ala670Val).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
BLOSUM score: help 0
Variant description: help In CODASS.
Other resources: help


Sequence information Variant position: help 670
Protein sequence length: help 959
Location on the sequence: help RDRMEMINVSGYVAQEKLAI A ERYLVPQARALCGLDESKAK
Residue conservation: help
Human                         RDRMEMINVSGYVAQEKLAIAERYLVPQARALCGLDESKAK

Mouse                         RDRMEMINVSGYVAQEKLAIAERYLVPQARTLCGLDESKAQ

Rat                           RDRMEMINVSGYVAQEKLAIAERYLVPQARTLCGLDESKAQ

Bovine                        RDRMEMINVSGYVAQEKLAIAERYLVPQARALCGLDESKAK

Caenorhabditis elegans        RDRMEMIDVSGYLAEEKVEIAHQHLIPQLRKDTSLATEQLK

Drosophila                    RDRMELIEMSGYVAEEKIAIARQYLMPQAMKDCGLTDKHIN

Baker's yeast                 LDRMEVIELTGYVAEDKVKIAEQYLVPSAKKSAGLENSHVD

Fission yeast                 LDRMEVIELSGYVSAEKVNIAKGYLIPQAKAACGLKDANVN

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 68 – 959 Lon protease homolog, mitochondrial
Helix 663 – 672



Literature citations
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
Dikoglu E.; Alfaiz A.; Gorna M.; Bertola D.; Chae J.H.; Cho T.J.; Derbent M.; Alanay Y.; Guran T.; Kim O.H.; Llerenar J.C. Jr.; Yamamoto G.; Superti-Furga G.; Reymond A.; Xenarios I.; Stevenson B.; Campos-Xavier B.; Bonafe L.; Superti-Furga A.; Unger S.;
Am. J. Med. Genet. A 167:1501-1509(2015)
Cited for: INVOLVEMENT IN CODASS; VARIANTS CODASS ALA-476; VAL-670; CYS-672; HIS-679; SER-749; GLU-767 AND ILE-927 DEL;
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.