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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04114: Variant p.Ala251Thr

Apolipoprotein B-100
Gene: APOB
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Variant information Variant position: help 251
Type of variant: help LB/B
Residue change: help From Alanine (A) to Threonine (T) at position 251 (A251T, p.Ala251Thr).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score: help 0
Polymorphism: help Genetic variations in APOB define the low density lipoprotein cholesterol level quantitative trait locus 4 (LDLCQ4) [MIM:615558].
Variant description: help Does not affect plasma lipid levels.
Other resources: help


Sequence information Variant position: help 251
Protein sequence length: help 4563
Location on the sequence: help MTRPLSTLISSSQSCQYTLD A KRKHVAEAICKEQHLFLPFS
Residue conservation: help 
Human                         MTRPLSTLISSSQSCQYTLDAKRKHVAEAICKEQHLFLPFS

Mouse                         LVHPLSTLISSSQTCQYTLDPKRKHVSEAVCDEQHLFLPFS

Rat                           LVRPLSTLISSSQSCQYTLEPKRKHVSEAICNEQHLFLPFS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 28 – 4563 Apolipoprotein B-100
Chain 28 – 2179 Apolipoprotein B-48
Domain 46 – 672 Vitellogenin
Region 232 – 306 Heparin-binding
Disulfide bond 245 – 261



Literature citations
Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia.
Miller S.A.; Hooper A.J.; Mantiri G.A.; Marais D.; Tanyanyiwa D.M.; McKnight J.; Burnett J.R.;
J. Clin. Lipidol. 10:604-609(2016)
Cited for: VARIANT FHBL1 LEU-952; VARIANT THR-251; CHARACTERIZATION OF VARIANT FHBL1 LEU-952; CHARACTERIZATION OF VARIANT THR-251; INTERACTION WITH MTTP;
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.