Variant position: 721 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 959 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KQYCRESGVRNLQKQVEKVL RKSAYKIVS-------------------------------------------GEAESV-----------EVTPEN
Mouse KQYCRESGVRNLQKQVEKVL RKAAYKIVS------------
Rat KQYCRESGVRNLQKQVEKVL RKAAYKIVS------------
Bovine KQYCRESGVRNLQKQVEKVL RKSAYKIVS------------
Caenorhabditis elegans KHYCRESGVRNLQQHIERIF RKAALQIAEQQN--------E
Drosophila RSYCRESGVRNLQKHIEKVI RKVAFRVVK------------
Baker's yeast KYYCRESGVRNLKKHIEKIY RKAALQVVKKLSIEDSPTSSA
Fission yeast SYYAHESGVRNLKKSIEKIF RKTSFSIVKEID---------
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
68 – 959 Lon protease homolog, mitochondrial
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;
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.