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UniProtKB/Swiss-Prot P54760: Variant p.Phe867Leu

Ephrin type-B receptor 4
Gene: EPHB4
Variant information

Variant position:  867
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Phenylalanine (F) to Leucine (L) at position 867 (F867L, p.Phe867Leu).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and aromatic (F) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In CMAVM2; loss of tyrosine phosphorylation; loss of interaction with RASA1.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  867
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:   TSLHQLMLDCWQKDRNARPR  F PQVVSALDKMIRNPASLKIV
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                         TSLHQLMLDCWQKDRNARPRFPQVVSALDKMIRNPASLKIV

Mouse                         TSLHQLMLDCWQKDRNARPRFPQVVSALDKMIRNPASLKIV

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.

TypePositionsDescription
Chain 16 – 987 Ephrin type-B receptor 4
Topological domain 561 – 987 Cytoplasmic
Domain 615 – 899 Protein kinase
Alternative sequence 307 – 987 Missing. In isoform 3.
Alternative sequence 415 – 987 Missing. In isoform 4.
Alternative sequence 517 – 987 Missing. In isoform 2.
Helix 867 – 879


Literature citations

Mutations in chromatin modifier and ephrin signaling genes in vein of Galen malformation.
Duran D.; Zeng X.; Jin S.C.; Choi J.; Nelson-Williams C.; Yatsula B.; Gaillard J.; Furey C.G.; Lu Q.; Timberlake A.T.; Dong W.; Sorscher M.A.; Loring E.; Klein J.; Allocco A.; Hunt A.; Conine S.; Karimy J.K.; Youngblood M.W.; Zhang J.; DiLuna M.L.; Matouk C.C.; Mane S.; Tikhonova I.R.; Castaldi C.; Lopez-Giraldez F.; Knight J.; Haider S.; Soban M.; Alper S.L.; Komiyama M.; Ducruet A.F.; Zabramski J.M.; Dardik A.; Walcott B.P.; Stapleton C.J.; Aagaard-Kienitz B.; Rodesch G.; Jackson E.; Smith E.R.; Orbach D.B.; Berenstein A.; Bilguvar K.; Vikkula M.; Gunel M.; Lifton R.P.; Kahle K.T.;
Neuron 101:429-443(2019)
Cited for: VARIANT GLY-509; CHARACTERIZATION OF VARIANT GLY-509; VARIANTS CMAVM2 ASN-650 AND LEU-867; CHARACTERIZATION OF VARIANTS CMAVM2 ASN-650 AND LEU-867; INVOLVEMENT IN CMAVM2; FUNCTION; INTERACTION WITH RASA1;

Disclaimer: 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.