Variant position: 132 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 LRAISHEHSPSDLEAHFVPL VKRLAGGDWFTSRTSACGLFS
Mouse LRAISHEHSPSDLEAHFVPL VKRLAGGDWFTSRTSACGLFS
Pig LRAISHEHSPSDLEAHFVPL VKRLAGGDWFTSRTSACGLFS
Bovine LRAISHEHSPSDLEAHFVPL VKRLAGGDWFTSRTSACGLFS
Caenorhabditis elegans LRKIADKHSSASLEEHFVPM LRRLATGDWFTSRTSACGLFS
Drosophila LRTVAAEHSAQDLEIHVVPT LQRLVSGDWFTSRTSACGLFS
Slime mold LCKIAKEIPTSSFEESFLPL LFSLSKADWFTSRTSACGLFT
Baker's yeast LNNVAQELSQEQLFSDFVPL IEHLATADWFSSKVSACGLFK
Fission yeast LNKVCICLSQEQLEQYFVPL VQRLSTAEWFTSRASSAGLYC
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
124 – 161 HEAT 4
8 – 399 PP2A subunit B binding
47 – 321 Polyoma small and medium T antigens Binding
85 – 239 SV40 small T antigen binding
128 – 136
Large-scale discovery of novel genetic causes of developmental disorders.
Deciphering Developmental Disorders Study;
Cited for: INVOLVEMENT IN MRD36; VARIANT MRD36 LEU-132;
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.