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UniProtKB/Swiss-Prot Q9NZU0: Variant p.Ile452Val

Leucine-rich repeat transmembrane protein FLRT3
Gene: FLRT3
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Variant information Variant position: help 452
Type of variant: help LB/B
Residue change: help From Isoleucine (I) to Valine (V) at position 452 (I452V, p.Ile452Val).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Variant description: help Found in a renal cell carcinoma case; somatic mutation.
Other resources: help


Sequence information Variant position: help 452
Protein sequence length: help 649
Location on the sequence: help PMTALRLSWLKLGHSPAFGS I TETIVTGERSEYLVTALEPD
Residue conservation: help 
Human                         PMTALRLSWLKLGHSPAFGSITETIVTGERSEYLVTALEPD

Mouse                         PMTALRLSWLKLGHSPAFGSITETIVTGERSEYLVTALEPE

Rat                           PMTALRLSWLKLGHSPAFGSITETIVTGERSEYLVTALEPE

Chicken                       PMTALRLSWLKMGHSPAFGSITETIVTGDRSDYLLTALEPE

Xenopus laevis                PMTALRLSW-QLGHSPVFGSITETIVTGDRAEYLLTALEPE

Xenopus tropicalis            PMTALRLSW-QLGHSPVFGSITETIVTGDRTEYLLTALEPE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 29 – 649 Leucine-rich repeat transmembrane protein FLRT3
Topological domain 29 – 528 Extracellular
Domain 409 – 504 Fibronectin type-III



Literature citations
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
Varela I.; Tarpey P.; Raine K.; Huang D.; Ong C.K.; Stephens P.; Davies H.; Jones D.; Lin M.L.; Teague J.; Bignell G.; Butler A.; Cho J.; Dalgliesh G.L.; Galappaththige D.; Greenman C.; Hardy C.; Jia M.; Latimer C.; Lau K.W.; Marshall J.; McLaren S.; Menzies A.; Mudie L.; Stebbings L.; Largaespada D.A.; Wessels L.F.A.; Richard S.; Kahnoski R.J.; Anema J.; Tuveson D.A.; Perez-Mancera P.A.; Mustonen V.; Fischer A.; Adams D.J.; Rust A.; Chan-On W.; Subimerb C.; Dykema K.; Furge K.; Campbell P.J.; Teh B.T.; Stratton M.R.; Futreal P.A.;
Nature 469:539-542(2011)
Cited for: VARIANT VAL-452;
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.