Variant position: 719 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 768 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 RKHEIEAAIVRIMKSRKKMQ HNVLVAEVTQQLKARFLPSPV
Mouse RKHEIEAAIVRIMKSRKKMQ HNVLVAEVTQQLKARFLPSPV
Rat RKHEIEAAIVRIMKSRKKMQ HNVLVAEVTQQLKARFLPSPV
Xenopus tropicalis RKHEIEAAIVRIMKSRKKMQ HNVLVAEVTQQLKARFLPSPV
Caenorhabditis elegans RKLEVEAAIVRIMKARKKLN HNNLVAEVTQQLRHRFMPSPI
Slime mold RKHQIEASIVRIMKARKTLE HSNLVSEVIKQLQSRFVPNPV
Baker's yeast IVMELSAIIVRIMKTEGKLS HQQLLERTTKRTQSRLSLTPS
Fission yeast RKHQADACIVRVMKDRKVCE HNQLMAEVTRQLNPRFHPSPM
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
2 – 768 Cullin-3
712 – 712 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in NEDD8)
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
Codina-Sola M.; Rodriguez-Santiago B.; Homs A.; Santoyo J.; Rigau M.; Aznar-Lain G.; Del Campo M.; Gener B.; Gabau E.; Botella M.P.; Gutierrez-Arumi A.; Antinolo G.; Perez-Jurado L.A.; Cusco I.;
Mol. Autism 6:21-21(2015)
Cited for: VARIANT ARG-719;
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.