Variant position: 122 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 275 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 VHFK-SFPEKDLLHCPSKDAI EAHFMSCMKEADALKH-KSQVI
Mouse VHFK-SFPEKDLLHCPSKDAV EAHFMSCMKEADALKH-KSQ
Rat VHFK-SFPEKDLLHCPCKDAV EAHFMSCVKEADALKH-KSQ
Pig VHFK-SFPEKDLLHCPSKDVI EAHFMSCVKEADALKH-KSR
Bovine VHFK-SFPEKDLLHCPSKDVI EAHFMSCVKEADALKH-KSQ
Caenorhabditis elegans VRTS-QPPPQ--FQMVDRDMM EAMFMQNIKEADYLKT-KAE
Drosophila IHFS-KFPEDMLVKLNSKELL ESHYMSCLKEADVLKH-RGL
Slime mold VHFQ-SYPDRILLRCPNIESV RTYYKNVLKEANFIKQGDIT
Baker's yeast LVMGDSLPPTIIPIASSKTQA EKFWFHQWKQVCFILNGSSK
Fission yeast LRSG-LFPTTKILQMETMDTF RTYFFNCLKESDYVRNGSSS
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
1 – 275 Autophagy protein 5
130 – 130 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ATG12)
130 – 130 K -> R. Loss of conjugaction with ATG12. Does affect interaction with DHX58, nor with MAVS.
118 – 137
Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.
Kim M.; Sandford E.; Gatica D.; Qiu Y.; Liu X.; Zheng Y.; Schulman B.A.; Xu J.; Semple I.; Ro S.H.; Kim B.; Mavioglu R.N.; Tolun A.; Jipa A.; Takats S.; Karpati M.; Li J.Z.; Yapici Z.; Juhasz G.; Lee J.H.; Klionsky D.J.; Burmeister M.;
Cited for: VARIANT SCAR25 ASP-122; CHARACTERIZATION OF VARIANT SCAR25 ASP-122; FUNCTION; CONJUGATION TO ATG12;
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.