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:
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 VTCNRPEQEIRFTIKFQEFS PNYMGLEFKKHHDYYITSTSN
Mouse VTCNKPHQEIRFTIKFQEFS PNYMGLEFKKYHDYYITSTSN
Rat VTCNKPQQEIRFTIKFQEFS PNYMGLEFKKYHDYYITSTSN
Chicken VTCNRPEQEIRFTIKFQEFS PNYMGLEFKRQQDYFITSTSN
Xenopus laevis VTCNQPGKEYRFTIKFQEFS PNYMGLEFRRNQDYYITSTSN
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.
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;
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).
Wieland I.; Reardon W.; Jakubiczka S.; Franco B.; Kress W.; Vincent-Delorme C.; Thierry P.; Edwards M.; Koenig R.; Rusu C.; Schweiger S.; Thompson E.; Tinschert S.; Stewart F.; Wieacker P.;
Hum. Mutat. 26:113-118(2005)
Cited for: VARIANTS CFNS ARG-27; LEU-54; SER-119; HIS-119; ALA-137; PHE-138; SER-151; SER-153; TYR-153 AND ARG-182;
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.