Variant position: 64 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 191 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 VMIGGEPYTLGLFDTAGQED YDRLRPLSYPQTDVFLVCFSV
Mouse VMIGGEPYTLGLFDTAGQED YDRLRPLSYPQTDVFLVCFSV
Rat VMIGGEPYTLGLFDTAGQED YDRLRPLSYPQTDVFLVCFSV
Pig VMIGGEPYTLGLFDTAGQED YDRLRPLSYPQTDVFLVCFSV
Bovine VMIGGEPYTLGLFDTAGQED YDRLRPLSYPQTDVFLVCFSV
Chicken VMIGGEPYTLGLFDTAGQED YDRLRPLSYPQTDVFLVCFSV
Caenorhabditis elegans VMIGGEPYTLGLFDTAGQED YDRLRPLSYPQTDVFLVCFSV
Drosophila VMIGGEPYTLGLFDTAGQED YDRLRPLSYPQTDVFLVCFSV
Baker's yeast VMIGDEPYTLGLFDTAGQED YDRLRPLSYPSTDVFLVCFSV
Fission yeast VMIGDEPYTLGLFDTAGQED YDRLRPLSYPQTDVFLVCFSV
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 – 188 Cell division control protein 42 homolog
64 – 64 Phosphotyrosine; by SRC
61 – 61 Q -> L. Constitutively active. Interacts with PARD6 proteins.
62 – 64
Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.
Takenouchi T.; Kosaki R.; Niizuma T.; Hata K.; Kosaki K.;
Am. J. Med. Genet. A 167A:2822-2825(2015)
Cited for: INVOLVEMENT IN TKS; VARIANT TKS CYS-64;
Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.
Takenouchi T.; Okamoto N.; Ida S.; Uehara T.; Kosaki K.;
Am. J. Med. Genet. A 170:852-855(2016)
Cited for: VARIANT TKS CYS-64;
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.