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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75096: Variant p.Cys160Tyr

Low-density lipoprotein receptor-related protein 4
Gene: LRP4
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Variant information Variant position: help 160
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Tyrosine (Y) at position 160 (C160Y, p.Cys160Tyr).
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (Y)
BLOSUM score: help -2
Variant description: help In CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling.
Other resources: help


Sequence information Variant position: help 160
Protein sequence length: help 1905
Location on the sequence: help DEQCDMRKCSDKEFRCSDGS C IAEHWYCDGDTDCKDGSDEE
Residue conservation: help 
Human                         DEQCDMRKCSDKEFRCSDGSCIAEHWYCDGDTDCKDGSDEE

Mouse                         DEQCDMRKCSDKEFRCSDGSCIAEHWYCDGDTDCKDGSDEE

Rat                           DEQCDMRKCSDKEFRCSDGSCIAEHWYCDGDTDCKDGSDEE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 21 – 1905 Low-density lipoprotein receptor-related protein 4
Topological domain 21 – 1725 Extracellular
Domain 147 – 183 LDL-receptor class A 4
Disulfide bond 148 – 160
Disulfide bond 155 – 173



Literature citations
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
Li Y.; Pawlik B.; Elcioglu N.; Aglan M.; Kayserili H.; Yigit G.; Percin F.; Goodman F.; Nurnberg G.; Cenani A.; Urquhart J.; Chung B.D.; Ismail S.; Amr K.; Aslanger A.D.; Becker C.; Netzer C.; Scambler P.; Eyaid W.; Hamamy H.; Clayton-Smith J.; Hennekam R.; Nurnberg P.; Herz J.; Temtamy S.A.; Wollnik B.;
Am. J. Hum. Genet. 86:696-706(2010)
Cited for: FUNCTION IN THE REGULATION OF CANONICAL WTN SIGNALING; VARIANTS CLSS ASN-137; TYR-160; ASN-449; PRO-461; PHE-473; ASN-529 AND ARG-1017; CHARACTERIZATION OF VARIANTS CLSS ASN-137; TYR-160; ASN-449; PHE-473 AND ASN-529;
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.