Variant position: 555 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 LVIVIISLIVLVVIWKQKPR YEIRWRVIESISPDGHEYIYV
Mouse LVIVIVSLIVLVVIWKQKPR YEIRWRVIESISPDGHEYIYV
Rat LVIVIVSLIVLVVIWKQKPR YEIRWRVIESISPDGHEYIYV
Chicken LVIVIISLIVLVIIWKQKPR YEIRWRVIESISPDGHEYIYV
Xenopus laevis LVIVIISLIVLVIIWKQKPR YEIRWRVIESISPDGHEYIYV
Zebrafish LVIVIISLIVLVIIWKQKPR YEIRWRVIESVSPDGHEYIYV
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
572 – 572 Phosphotyrosine; by autocatalysis
574 – 574 Phosphotyrosine; by autocatalysis
219 – 1089 Missing. In isoform 2.
572 – 572 Y -> F. Abolishes interaction with SRC-family members and impairs internalization of the activated receptor; when associated with F-574.
574 – 574 Y -> F. Abolishes interaction with SRC-family members and impairs internalization of the activated receptor; when associated with F-572.
Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA.
de Raedt T.; Cools J.; Debiec-Rychter M.; Brems H.; Mentens N.; Sciot R.; Himpens J.; de Wever I.; Schoeffski P.; Marynen P.; Legius E.;
Cited for: VARIANT GISTPS CYS-555; CHARACTERIZATION OF VARIANT GISTPS CYS-555; FUNCTION;
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.