Variant position: 473 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 EADEAIKGFSPQHKITSFEE AKG--LDRINER-----MPPR------------------RDAMPSD
Mouse EADEAIKGFSPQHKITSFEE AKG--LDRINER-----MPPR
Rat EADEAIKGFSPQHKITSFEE AKG--LDRINER-----MPPR
Bovine EADEAIKGFSPQHKITSFEE AKG--LDRINER-----MPPR
Slime mold ---KALGDFAQARKMDLINE KRPPILDRVNSRGELLRMNSR
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
465 – 487 Autoinhibitory domain
469 – 469 Phosphoserine
492 – 492 Phosphoserine
470 – 477
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Mizuguchi T.; Nakashima M.; Kato M.; Okamoto N.; Kurahashi H.; Ekhilevitch N.; Shiina M.; Nishimura G.; Shibata T.; Matsuo M.; Ikeda T.; Ogata K.; Tsuchida N.; Mitsuhashi S.; Miyatake S.; Takata A.; Miyake N.; Hata K.; Kaname T.; Matsubara Y.; Saitsu H.; Matsumoto N.;
Hum. Mol. Genet. 27:1421-1433(2018)
Cited for: VARIANTS ACCIID LEU-470 AND THR-473; INVOLVEMENT IN ACCIID; VARIANTS IECEE1 ARG-92; ILE-150 AND GLU-234;
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.