Variant position: 948 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 AGYTAIEKVVQMTNDDIKRI GVRLPGHQKRIAYSLLGLKDQ
Mouse AGYTAIEKVVQMSNEDIKRI GVRLPGHQKRIAYSLLGLKDQ
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
904 – 968 SAM
886 – 976 Negatively regulates interaction with ARHGEF16
930 – 930 Phosphotyrosine
498 – 976 Missing. In isoform 2.
The EPHA2 gene is associated with cataracts linked to chromosome 1p.
Shiels A.; Bennett T.M.; Knopf H.L.S.; Maraini G.; Li A.; Jiao X.; Hejtmancik J.F.;
Mol. Vis. 14:2042-2055(2008)
Cited for: VARIANT CTRCT6 TRP-948;
Human cataract mutations in EPHA2 SAM domain alter receptor stability and function.
Park J.E.; Son A.I.; Hua R.; Wang L.; Zhang X.; Zhou R.;
PLoS ONE 7:E36564-E36564(2012)
Cited for: CHARACTERIZATION OF VARIANTS CTRCT6 ILE-940 AND CTRCT6 TRP-948;
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.