Variant position: 179 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 589 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 SSAVKAELRQYFRNLCSDDT PMVRRAAASKLGEFAKVLEL------D
Mouse SSAVKAELRQYFRNLCSDDT PMVRRAAASKLGEFAKVLEL-
Pig SSAVKAELRQYFRNLCSDDT PMVRRAAASKLGEFAKVLEL-
Bovine SSAVKAELRQYFRNLCSDDT PMVRRAAASKLGEFAKVLEL-
Caenorhabditis elegans SPAIKSELKSMFRTLCRDDT PMVRRAAAAKLGEFAKVFEK-
Drosophila TQPVKAELRANFRKLCQDET PMVRRAAANKLGEFAKVVET-
Slime mold NAEMKKSLRKTFGGLCHDDT PMVKRAAATNLGSFAKQIEK-
Baker's yeast DDSLRKNILALYLQLAQDDT PMVKRAVGKNLPILIDLLTQN
Fission yeast NPAVKVSLRQSFSHLCHDEA PMVRRPAATNCAKFVFLVTK-
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 – 589 Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform
162 – 200 HEAT 5
8 – 399 PP2A subunit B binding
47 – 321 Polyoma small and medium T antigens Binding
85 – 239 SV40 small T antigen binding
179 – 194
B56delta-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
Houge G.; Haesen D.; Vissers L.E.; Mehta S.; Parker M.J.; Wright M.; Vogt J.; McKee S.; Tolmie J.L.; Cordeiro N.; Kleefstra T.; Willemsen M.H.; Reijnders M.R.; Berland S.; Hayman E.; Lahat E.; Brilstra E.H.; van Gassen K.L.; Zonneveld-Huijssoon E.; de Bie C.I.; Hoischen A.; Eichler E.E.; Holdhus R.; Steen V.M.; Doeskeland S.O.; Hurles M.E.; FitzPatrick D.R.; Janssens V.;
J. Clin. Invest. 125:3051-3062(2015)
Cited for: VARIANTS MRD36 LEU-179; TRP-182 AND HIS-258; CHARACTERIZATION MRD36 OF VARIANTS LEU-179; TRP-182 AND HIS-258;
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.