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UniProtKB/Swiss-Prot O75581: Variant p.Val1062Ile

Low-density lipoprotein receptor-related protein 6
Gene: LRP6
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Variant information Variant position: help 1062
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 1062 (V1062I, p.Val1062Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Other resources: help


Sequence information Variant position: help 1062
Protein sequence length: help 1613
Location on the sequence: help RLDGRSVGVVLKGEQDRPRA V VVNPEKGYMYFTNLQERSPK
Residue conservation: help 
Human                         RLDGRSVGVVLKGEQDRPRAVVVNPEKGYMYFTNLQERSPK

Mouse                         RLDGRSVGVVLKGEQDRPRAIVVNPEKGYMYFTNLQERSPK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 20 – 1613 Low-density lipoprotein receptor-related protein 6
Topological domain 20 – 1370 Extracellular
Repeat 1026 – 1068 LDL-receptor class B 17
Region 933 – 1202 Beta-propeller 4
Beta strand 1059 – 1065



Literature citations
Isolation and characterization of LRP6, a novel member of the low density lipoprotein receptor gene family.
Brown S.D.; Twells R.C.; Hey P.J.; Cox R.D.; Levy E.R.; Soderman A.R.; Metzker M.L.; Caskey C.T.; Todd J.A.; Hess J.F.;
Biochem. Biophys. Res. Commun. 248:879-888(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ILE-1062;
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.