Variant position: 628 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 821 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 YQLARGMEYLASQKCIHRDL AARNVLVTENNVMKIADFGLA
Mouse YQLARGMEYLASQKCIHRDL AARNVLVTENNVMKIADFGLA
Chicken YQLARGMEYLASQKCIHRDL AARNVLVTENNVMKIADFGLA
Xenopus laevis YQIARGMEYLASQKCIHRDL AARNVLVTENNVMKIADFGLA
Zebrafish YQVARGMEYLASQKCIHRDL AARNVLVTESNVMKIADFGLA
Drosophila FQIARGMEYLASRRCIHRDL AARNVLVSDGYVMKIADFGLA
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
22 – 821 Fibroblast growth factor receptor 2
399 – 821 Cytoplasmic
481 – 770 Protein kinase
626 – 626 Proton acceptor
255 – 821 Missing. In isoform 14.
366 – 821 Missing. In isoform 19.
Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation.
Lew E.D.; Bae J.H.; Rohmann E.; Wollnik B.; Schlessinger J.;
Proc. Natl. Acad. Sci. U.S.A. 104:19802-19807(2007)
Cited for: X-RAY CRYSTALLOGRAPHY (1.80 ANGSTROMS) OF 458-766 OF VARIANT LADDS THR-628 IN COMPLEX WITH ATP ANALOG; CATALYTIC ACTIVITY; SUBUNIT; AUTOPHOSPHORYLATION;
Mutations in different components of FGF signaling in LADD syndrome.
Rohmann E.; Brunner H.G.; Kayserili H.; Uyguner O.; Nuernberg G.; Lew E.D.; Dobbie A.; Eswarakumar V.P.; Uzumcu A.; Ulubil-Emeroglu M.; Leroy J.G.; Li Y.; Becker C.; Lehnerdt K.; Cremers C.W.R.J.; Yueksel-Apak M.; Nuernberg P.; Kubisch C.; Schlessinger J.; van Bokhoven H.; Wollnik B.;
Nat. Genet. 38:414-417(2006)
Cited for: VARIANTS LADDS THR-628; THR-648 AND 649-ARG-ASP-650 DELINS SER;
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.