UniProtKB/SwissProt variant VAR

Fibroblast growth factor receptor 2
Gene: FGFR2
Feedback?

Variant information Variant position:

526
Type of variant:

LP/P [Disclaimer]
Residue change:

From Lysine (K) to Glutamate (E) at position 526 (K526E, p.Lys526Glu).
Physico-chemical properties:

Change from large size and basic (K) to medium size and acidic (E)
BLOSUM score:

1
Variant description:

In FSPC; constitutive kinase activity.
Other resources:

Variant rs121918507 [ dbSNP | Ensembl ]

Sequence information Variant position:

526
Protein sequence length:

821
Location on the sequence:

DKPKEAVTVAVKMLKDDATE K DLSDLVSEMEMMKMIGKHKN
Residue conservation:

Human                         DKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKMIGKHKN

Mouse                         DKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKMIGKHKN

Chicken                       DRPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKMIGKHKN

Xenopus laevis                ERPKESVTVAVKMLKDNATEKDLADLVSEMEMMKMIGKHKN

Zebrafish                     DKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKMIGRHKN

Drosophila                    SPQLAETIVAVKMVKEEHTDTDMASLVREMEVMKMIGKHIN

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	22 – 821	Fibroblast growth factor receptor 2
Topological domain	399 – 821	Cytoplasmic
Domain	481 – 770	Protein kinase
Binding site	517 – 517
Alternative sequence	255 – 821	Missing. In isoform 8.
Alternative sequence	366 – 821	Missing. In isoform 13.
Helix	525 – 541

Literature citations
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
Chen H.; Ma J.; Li W.; Eliseenkova A.V.; Xu C.; Neubert T.A.; Miller W.T.; Mohammadi M.;
Mol. Cell 27:717-730(2007)
Cited for: X-RAY CRYSTALLOGRAPHY (1.80 ANGSTROMS) OF 458-778 IN COMPLEX WITH ATP ANALOG; PEPTIDE SUBSTRATE AND MAGNESIUM; ACTIVITY REGULATION; PHOSPHORYLATION AT TYR-586; TYR-656 AND TYR-657; MUTAGENESIS OF ASN-549 AND GLU-565; CHARACTERIZATION OF VARIANT FSPC GLU-526; CHARACTERIZATION OF VARIANT CS HIS-549; CHARACTERIZATION OF VARIANTS PS GLY-565 AND ARG-641; CHARACTERIZATION OF VARIANT CRANIOSYNOSTOSIS ASN-659; Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
McGillivray G.; Savarirayan R.; Cox T.C.; Stojkoski C.; McNeil R.; Bankier A.; Bateman J.F.; Roscioli T.; Gardner R.J.M.; Lamande S.R.;
J. Med. Genet. 42:656-662(2005)
Cited for: VARIANT FSPC GLU-526;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21802: Variant p.Lys526Glu