UniProtKB/Swiss-Prot P98172: Variant p.Pro119Thr

Ephrin-B1
Gene: EFNB1
Chromosomal location: Xp11
Variant information

Variant position:  119
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Proline (P) to Threonine (T) at position 119 (P119T, p.Pro119Thr).
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 medium size and hydrophobic (P) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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 CFNS.
Any additional useful information about the variant.



Sequence information

Variant position:  119
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  346
The length of the canonical sequence.

Location on the sequence:   VTCNRPEQEIRFTIKFQEFS  P NYMGLEFKKHHDYYITSTSN
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                         VTCNRPEQEIRFTIKFQEFSPNYMGLEFKKHHDYYITSTSN

Mouse                         VTCNKPHQEIRFTIKFQEFSPNYMGLEFKKYHDYYITSTSN

Rat                           VTCNKPQQEIRFTIKFQEFSPNYMGLEFKKYHDYYITSTSN

Chicken                       VTCNRPEQEIRFTIKFQEFSPNYMGLEFKRQQDYFITSTSN

Xenopus laevis                VTCNQPGKEYRFTIKFQEFSPNYMGLEFRRNQDYYITSTSN

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 28 – 346 Ephrin-B1
Topological domain 28 – 237 Extracellular
Domain 30 – 164 Ephrin RBD
Glycosylation 139 – 139 N-linked (GlcNAc...)
Disulfide bond 89 – 153


Literature citations

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
Twigg S.R.F.; Kan R.; Babbs C.; Bochukova E.G.; Robertson S.P.; Wall S.A.; Morriss-Kay G.M.; Wilkie A.O.M.;
Proc. Natl. Acad. Sci. U.S.A. 101:8652-8657(2004)
Cited for: VARIANTS CFNS THR-62; SER-98; PRO-115; HIS-119; THR-119; SER-151; VAL-151; PRO-155; ILE-158 AND VAL-158; VARIANT HIS-154;

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.