Variant position: 310 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 404 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 DFFPTMSMKPNPQCDDRNCR KQQEEYKKKVAALPKQ-EVI-QE
Mouse DFFPTMFMKPNPQCDDKNCR KQQEEYKKRAAALPTQ-EAEP
Rat DFFPTMFMKPNPQCDDKNCR KQQEEYKKRAPAQPTQ-ETAP
Bovine DFFPTMSMKPNPQCDDRNCR KQQKEYKKKVAALPKQ-EVI-
Chicken DFFPTMAMKPNPQCSDQNCR KQQENYKIKEAAQPKQ-EEI-
Xenopus laevis DFFPTMAMKPNPQCDDKYCR KQQEEFKLKEAAKPKQ-ETVV
Xenopus tropicalis DFFPTMAMKPNPQCGDKYCR KQQEEFKLKEAARPKQ-EPIV
Zebrafish DFFPSMAMKANPQCDDRHCR RQQDEYKKKEAERPKQ-EVV-
Caenorhabditis elegans DFFPRDSIKPNPYCDDSHCL QRQKEYEEKVANQPVDLEVEV
Drosophila DFFPKMTLKPNPQCDDRNCL VRQKEFQARPKPVLIE-EKAV
Slime mold DYFPKDNMKPNPECSNSFCI IHQQKYKEFLKNNPKE-NLIQ
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.
UBA5 mutations cause a new form of autosomal recessive cerebellar ataxia.
Duan R.; Shi Y.; Yu L.; Zhang G.; Li J.; Lin Y.; Guo J.; Wang J.; Shen L.; Jiang H.; Wang G.; Tang B.;
PLoS ONE 11:E0149039-E0149039(2016)
Cited for: INTERACTION WITH UFM1; SUBCELLULAR LOCATION; INVOLVEMENT IN SCAR24; VARIANTS SCAR24 GLU-310 AND ARG-246--MET-404; CHARACTERIZATION OF VARIANTS SCAR24 GLU-310 AND ARG-246--MET-404;
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.