UniProtKB/SwissProt variant VAR

Vascular endothelial growth factor receptor 3
Gene: FLT4
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Variant information Variant position:

857
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Arginine (R) at position 857 (G857R, p.Gly857Arg).
Physico-chemical properties:

Change from glycine (G) to large size and basic (R)
BLOSUM score:

-2
Variant description:

In LMPHM1; loss of kinase activity.
Other resources:

Variant rs267606818 [ dbSNP | Ensembl ]

Sequence information Variant position:

857
Protein sequence length:

1363
Location on the sequence:

QWEFPRERLHLGRVLGYGAF G KVVEASAFGIHKGSSCDTVA
Residue conservation:

Human                         QWEFPRERLHLGRVLGYGAFGKVVEASAFGIHKGSSCDTVA

Mouse                         QWEFPRERLHLGRVLGHGAFGKVVEASAFGINKGSSCDTVA

Rat                           QWEFPRERLHLGRVLGHGAFGKVVEASAFGINKGSSCDTVA

Zebrafish                     QWEISRDRLRLGKVLGHGAFGKVIEASIFGHDKKSSANTVA

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	25 – 1363	Vascular endothelial growth factor receptor 3
Topological domain	797 – 1363	Cytoplasmic
Domain	845 – 1173	Protein kinase
Binding site	851 – 859
Modified residue	853 – 853	Phosphotyrosine; by SRC
Alternative sequence	766 – 1298	Missing. In isoform 3.

Literature citations
Activation of vascular endothelial growth factor receptor-3 and its downstream signaling promote cell survival under oxidative stress.
Wang J.F.; Zhang X.; Groopman J.E.;
J. Biol. Chem. 279:27088-27097(2004)
Cited for: FUNCTION IN CELL SURVIVAL; PHOSPHORYLATION IN RESPONSE TO OXIDATIVE STRESS; INTERACTION WITH PIK3R1; SHC1; GRB2; PTPN11 AND PLCG1; ACTIVITY REGULATION BY MAZ51; CHARACTERIZATION OF VARIANT LMPHM1 ARG-857; Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.
Karkkainen M.J.; Ferrell R.E.; Lawrence E.C.; Kimak M.A.; Levinson K.L.; McTigue M.A.; Alitalo K.; Finegold D.N.;
Nat. Genet. 25:153-159(2000)
Cited for: VARIANTS LMPHM1 ARG-857; PRO-1041; PRO-1044 AND LEU-1114; VARIANT SER-641; CHARACTERIZATION OF VARIANTS;

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 P35916: Variant p.Gly857Arg