Variant position: 551 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 893 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 VLKAWVVSHPDLV-YWQGLDS LCAPFLYLNFNNEALAYACMS
Mouse VLKAWVVSHPDLV-YWQGLDS LCAPFLYLNFNNEALAYACM
Chicken VLKAWVVSHPDLV-YWQGLDS LCAPFLYLNFNNEALAYACM
Slime mold ILKAWSLLNLEKGCYWQGLDN VASPFLVHHFFNEPIAFASL
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 – 893 TBC domain-containing protein kinase-like protein
466 – 651 Rab-GAP TBC
Mutations in TBCK, encoding TBC1-domain-containing kinase, lead to a recognizable syndrome of intellectual disability and hypotonia.
Bhoj E.J.; Li D.; Harr M.; Edvardson S.; Elpeleg O.; Chisholm E.; Juusola J.; Douglas G.; Guillen Sacoto M.J.; Siquier-Pernet K.; Saadi A.; Bole-Feysot C.; Nitschke P.; Narravula A.; Walke M.; Horner M.B.; Day-Salvatore D.L.; Jayakar P.; Vergano S.A.; Tarnopolsky M.A.; Hegde M.; Colleaux L.; Crino P.; Hakonarson H.;
Am. J. Hum. Genet. 98:782-788(2016)
Cited for: FUNCTION; INVOLVEMENT IN IHPRF3; VARIANT IHPRF3 PRO-551;
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