Sequence information
Variant position: 648 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:
AARNVLVTENNVMKIADFGL
A RDINNIDYYKKTTNGRLPVK
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 AARNVLVTENNVMKIADFGLA RDINNIDYYKKTTNGRLPVK
Mouse AARNVLVTENNVMKIADFGLA RDINNIDYYKKTTNGRLPVK
Chicken AARNVLVTENNVMKIADFGLA RDINNIDYYKKTTNGRLPVK
Xenopus laevis AARNVLVTENNVMKIADFGLA RDVNNIDYYKKTSNGRLPVK
Zebrafish AARNVLVTESNVMKIADFGLA RDVHNIDYYKKTTNGRLPVK
Drosophila AARNVLVSDGYVMKIADFGLA RDIQDTEYYRKNTNGRLPIK
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
Chain
22 – 821
Fibroblast growth factor receptor 2
Topological domain
399 – 821
Cytoplasmic
Domain
481 – 770
Protein kinase
Modified residue
656 – 656
Phosphotyrosine; by autocatalysis
Modified residue
657 – 657
Phosphotyrosine; by autocatalysis
Alternative sequence
255 – 821
Missing. In isoform 8.
Alternative sequence
366 – 821
Missing. In isoform 13.
Literature citations
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;
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.