Variant position: 739 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 987 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 GMLRGIASGMRYLAEMSYVH RDLAARNILVNSNLVCKVSDF
Mouse GMLRGIASGMRYLAEMSYVH RDLAARNILVNSNLVCKVSDF
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
16 – 987 Ephrin type-B receptor 4
561 – 987 Cytoplasmic
615 – 899 Protein kinase
740 – 740 Proton acceptor
307 – 987 Missing. In isoform 3.
415 – 987 Missing. In isoform 4.
517 – 987 Missing. In isoform 2.
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.
Martin-Almedina S.; Martinez-Corral I.; Holdhus R.; Vicente A.; Fotiou E.; Lin S.; Petersen K.; Simpson M.A.; Hoischen A.; Gilissen C.; Jeffery H.; Atton G.; Karapouliou C.; Brice G.; Gordon K.; Wiseman J.W.; Wedin M.; Rockson S.G.; Jeffery S.; Mortimer P.S.; Snyder M.P.; Berland S.; Mansour S.; Makinen T.; Ostergaard P.;
J. Clin. Invest. 126:3080-3088(2016)
Cited for: INVOLVEMENT IN HFASD; VARIANTS HFASD GLN-739 AND SER-782; CHARACTERIZATION OF VARIANTS HFASD GLU-739 AND SER-782; 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.