Variant position: 721 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 976 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 DKFLREKDGEFSVLQLVGML RGIAAGMKYLANMNYVHRDLA
Mouse DKFLREKDGEFSVLQLVGML RGIASGMKYLANMNYVHRDLA
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 – 976 Ephrin type-A receptor 2
559 – 976 Cytoplasmic
613 – 875 Protein kinase
606 – 906 Mediates interaction with ARHGEF16 and ELMO2
739 – 739 Proton acceptor
735 – 735 Phosphotyrosine; by autocatalysis
498 – 976 Missing. In isoform 2.
739 – 739 D -> N. Increases serum-induced chemotaxis. Loss of EFNA1-dependent regulation of cell migration.
713 – 732
EPHA2 is associated with age-related cortical cataract in mice and humans.
Jun G.; Guo H.; Klein B.E.; Klein R.; Wang J.J.; Mitchell P.; Miao H.; Lee K.E.; Joshi T.; Buck M.; Chugha P.; Bardenstein D.; Klein A.P.; Bailey-Wilson J.E.; Gong X.; Spector T.D.; Andrew T.; Hammond C.J.; Elston R.C.; Iyengar S.K.; Wang B.;
PLoS Genet. 5:E1000584-E1000584(2009)
Cited for: VARIANT CTRCT6 GLN-721; CHARACTERIZATION OF VARIANT CTRCT6 GLN-721;
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.