Variant position: 281 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 521 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 SYPAVCEFLQHNNLLSILRA HEAQDAGYRMYRKSQTTGFPS
Mouse SYPAVCDFLQHNNLLSILRA HEAQDAGYRMYRKSQTTGFPS
Rat SYPAVCDFLQHNNLLSILRA HEAQDAGYRMYRKSQTTGFPS
Bovine SYPAVCEFLQHNNLLSILRA HEAQDAGYRMYRKSQTTGFPS
Slime mold SYRAVCSFLQKNKLLSVIRA HEAQNAGYKMHLQNDATGFPS
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 – 521 Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform
56 – 340 Catalytic
281 – 281 Zinc; via pros nitrogen
87 – 318 Missing. In isoform 4.
288 – 288 Y -> F. Partial loss of Ca(2+)-mediated transcription factor NFAT activation; when associated with F-341.
288 – 288 Y -> NA. Loss of Ca(2+)-mediated transcription factor NFAT activation; when associated with F-341.
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Myers C.T.; Stong N.; Mountier E.I.; Helbig K.L.; Freytag S.; Sullivan J.E.; Ben Zeev B.; Nissenkorn A.; Tzadok M.; Heimer G.; Shinde D.N.; Rezazadeh A.; Regan B.M.; Oliver K.L.; Ernst M.E.; Lippa N.C.; Mulhern M.S.; Ren Z.; Poduri A.; Andrade D.M.; Bird L.M.; Bahlo M.; Berkovic S.F.; Lowenstein D.H.; Scheffer I.E.; Sadleir L.G.; Goldstein D.B.; Mefford H.C.; Heinzen E.L.;
Am. J. Hum. Genet. 101:516-524(2017)
Cited for: INVOLVEMENT IN IECEE1; VARIANTS IECEE1 ARG-92; GLN-281; LYS-282; 445-GLN--GLN-521 DEL AND THR-447;
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.