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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01130: Variant p.Arg416Trp

Low-density lipoprotein receptor
Gene: LDLR
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Variant information Variant position: help 416
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Tryptophan (W) at position 416 (R416W, p.Arg416Trp).
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score: help -3
Variant description: help In FHCL1; results in reduced receptor expression at the cell surface due to defective receptor recycling.
Other resources: help


Sequence information Variant position: help 416
Protein sequence length: help 860
Location on the sequence: help GSIAYLFFTNRHEVRKMTLD R SEYTSLIPNLRNVVALDTEV
Residue conservation: help 
Human                         GSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEV

Mouse                         GSIGYLLFTNRHEVRKMTLDRSEYTSLLPNLKNVVALDTEV

Rat                           GSIGFLLFTNRHEVRKMTLDRSEYTSLIPNLKNVVALDTEV

Bovine                        GTIAYLFFTNRHEVRKMTLDRSEYTSLIPNLKNVVALDTEV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 22 – 860 Low-density lipoprotein receptor
Topological domain 22 – 788 Extracellular
Repeat 397 – 438 LDL-receptor class B 1



Literature citations
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
Day I.N.M.; Whittall R.A.; O'Dell S.D.; Haddad L.; Bolla M.K.; Gudnason V.; Humphries S.E.;
Hum. Mutat. 10:116-127(1997)
Cited for: VARIANTS FHCL1 TRP-27; CYS-78; GLY-87; TYR-89; ASN-90; GLY-90; LYS-101; TYR-160; ASN-168; LEU-177; GLY-221; GLU-227; ARG-286; TYR-313; TYR-327; ASN-342; PRO-350; ASP-399; TRP-416; HIS-482; ARG-483; SER-526; ASP-549; CYS-633; LEU-649 AND ILE-726; Molecular genetics of familial hypercholesterolaemia in Norway.
Leren T.P.; Tonstad S.; Gundersen K.E.; Bakken K.S.; Rodningen O.K.; Sundvold H.; Ose L.; Berg K.;
J. Intern. Med. 241:185-194(1997)
Cited for: VARIANTS FHCL1 PRO-56; TYR-175; TYR-356; VAL-401 AND TRP-416; Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.
Alonso R.; Defesche J.C.; Tejedor D.; Castillo S.; Stef M.; Mata N.; Gomez-Enterria P.; Martinez-Faedo C.; Forga L.; Mata P.;
Clin. Biochem. 42:899-903(2009)
Cited for: VARIANTS FHCL1 TYR-155; GLY-300; GLY-301; TRP-416 AND ASN-454; Functional characterization and classification of frequent low-density lipoprotein receptor variants.
Etxebarria A.; Benito-Vicente A.; Palacios L.; Stef M.; Cenarro A.; Civeira F.; Ostolaza H.; Martin C.;
Hum. Mutat. 36:129-141(2015)
Cited for: CHARACTERIZATION OF VARIANTS FHCL1 TYR-155; TRP-416; ASN-454; GLY-577 AND LYS-825;
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.