Variant position: 705 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1089 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 YLHKNRDSFLSHHPEKPKKE LDIFGLNPADESTRSYVILSF
Mouse YLHKNRDSFMSQHPEKPKKD LDIFGLNPADESTRSYVILSF
Rat YLHKNRDSFMSRHPEKPKKD LDIFGLNPADESTRSYVILSF
Chicken YLHKNRDNFLSRHPEKPKKD LDIFGMNPADESTRSYVILSF
Xenopus laevis YLHKNRDNFQSRHPEKPKKD LDIFGLNPADESTRSYVILSF
Zebrafish YLHKNRDGFLSRHTEKGKKD LDIFGINPADESSRSYVILSL
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
24 – 1089 Platelet-derived growth factor receptor alpha
550 – 1089 Cytoplasmic
593 – 954 Protein kinase
720 – 720 Phosphotyrosine; by autocatalysis
219 – 1089 Missing. In isoform 2.
720 – 720 Y -> F. Strongly reduced interaction with PTPN11 and GRB2.
Novel imatinib-sensitive PDGFRA-activating point mutations in hypereosinophilic syndrome induce growth factor independence and leukemia-like disease.
Elling C.; Erben P.; Walz C.; Frickenhaus M.; Schemionek M.; Stehling M.; Serve H.; Cross N.C.; Hochhaus A.; Hofmann W.K.; Berdel W.E.; Muller-Tidow C.; Reiter A.; Koschmieder S.;
Cited for: FUNCTION IN PHOSPHORYLATION OF STAT 5A AND/OR STAT5B; ROLE IN HYPEREOSINOPHILIC SYNDROME; VARIANTS GLY-481; PRO-507; MET-562; ARG-570; GLN-650; SER-659; PRO-705; GLY-748 AND SER-849; CHARACTERIZATION OF VARIANTS GLY-481; PRO-507; MET-562; ARG-570; GLN-650; SER-659; PRO-705; GLY-748 AND SER-849; ACTIVITY REGULATION;
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.