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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P36776: Variant p.Arg721Gly

Lon protease homolog, mitochondrial
Gene: LONP1
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Variant information Variant position: help 721
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glycine (G) at position 721 (R721G, p.Arg721Gly).
Physico-chemical properties: help Change from large size and basic (R) to glycine (G)
BLOSUM score: help -2
Variant description: help In CODASS.
Other resources: help


Sequence information Variant position: help 721
Protein sequence length: help 959
Location on the sequence: help KQYCRESGVRNLQKQVEKVL R KSAYKIVSGEAESVEVTPEN
Residue conservation: help 
Human                         KQYCRESGVRNLQKQVEKVLRKSAYKIVS-------------------------------------------GEAESV-----------EVTPEN

Mouse                         KQYCRESGVRNLQKQVEKVLRKAAYKIVS------------

Rat                           KQYCRESGVRNLQKQVEKVLRKAAYKIVS------------

Bovine                        KQYCRESGVRNLQKQVEKVLRKSAYKIVS------------

Caenorhabditis elegans        KHYCRESGVRNLQQHIERIFRKAALQIAEQQN--------E

Drosophila                    RSYCRESGVRNLQKHIEKVIRKVAFRVVK------------

Baker's yeast                 KYYCRESGVRNLKKHIEKIYRKAALQVVKKLSIEDSPTSSA

Fission yeast                 SYYAHESGVRNLKKSIEKIFRKTSFSIVKEID---------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 68 – 959 Lon protease homolog, mitochondrial
Helix 712 – 728



Literature citations
CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
Strauss K.A.; Jinks R.N.; Puffenberger E.G.; Venkatesh S.; Singh K.; Cheng I.; Mikita N.; Thilagavathi J.; Lee J.; Sarafianos S.; Benkert A.; Koehler A.; Zhu A.; Trovillion V.; McGlincy M.; Morlet T.; Deardorff M.; Innes A.M.; Prasad C.; Chudley A.E.; Lee I.N.; Suzuki C.K.;
Am. J. Hum. Genet. 96:121-135(2015)
Cited for: INVOLVEMENT IN CODASS; VARIANTS CODASS TYR-631; SER-676; GLY-721 AND VAL-724;
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.