Variant position: 1046 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3056 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 WHLTKERKYIFSVRMALVNC LKTLLEADPYSKWAILNVMGK
Mouse WHLTKEKKCVFSVRMALVKC LQTLLEADPYSEWAILNVKGQ
Pig WHLTKEGKCTFSVRLALVKC LKTLLEADPYSRWAILNVMEK
Caenorhabditis elegans GETISETDIFIIEKRTLSTC IRNVSE---------------
Drosophila LRIAIKKSYTSNLTAKIVRC VGLIAQRCPD-----IYLLEN
Baker's yeast WIISRFEDNSFTGVAPTVN- ---------------LSMLLL
Fission yeast VKITKFIEKVFIETKFSSLS GRQTF----------LKFIFQ
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.
Molecular and functional characterization of a cohort of Spanish patients with ataxia-telangiectasia.
Carranza D.; Vega A.K.; Torres-Rusillo S.; Montero E.; Martinez L.J.; Santamaria M.; Santos J.L.; Molina I.J.;
NeuroMolecular Med. 19:161-174(2017)
Cited for: VARIANTS AT VAL-323; PRO-1046; ARG-2023; SER-2068; ASP-2080; HIS-2627; LEU-2834 AND ASP-3003; CHARACTERIZATION OF VARIANTS AT VAL-323; PRO-1046; ARG-2023; SER-2068; ASP-2080; HIS-2627; LEU-2834 AND ASP-3003; PHOSPHORYLATION;
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.