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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04114: Variant p.Tyr3964Phe

Apolipoprotein B-100
Gene: APOB
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Variant information Variant position: help 3964
Type of variant: help LB/B
Residue change: help From Tyrosine (Y) to Phenylalanine (F) at position 3964 (Y3964F, p.Tyr3964Phe).
Physico-chemical properties: help Similar physico-chemical property. Both residues are large size and aromatic.
BLOSUM score: help 3
Polymorphism: help Genetic variations in APOB define the low density lipoprotein cholesterol level quantitative trait locus 4 (LDLCQ4) [MIM:615558].
Other resources: help


Sequence information Variant position: help 3964
Protein sequence length: help 4563
Location on the sequence: help KTKGTFAHRDFSAEYEEDGK Y EGLQEWEGKAHLNIKSPAFT
Residue conservation: help 
Human                         KTKGTFAHRDFSAEYEEDGKYEGLQEWEGKAHLNIKSPAFT

Mouse                         NIKGTLQHCDFNVEYNEDGLFKGLWDWQGEAHLDITSPALT

Rat                           KIKGTLQHCDFNVKYNEDGIFEGLWDLEGEAHLDITSPALT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 28 – 4563 Apolipoprotein B-100



Literature citations
Complete cDNA and derived protein sequence of human apolipoprotein B-100.
Knott T.C.; Wallis S.C.; Powell L.M.; Pease R.J.; Lusis A.J.; Blackhart B.; McCarthy B.J.; Mahley R.W.; Levy-Wilson B.; Scott J.;
Nucleic Acids Res. 14:7501-7503(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ASN-273; GLU-1218; VAL-2092; VAL-2313; THR-2365; GLN-2680; HIS-3319; LYS-3427; GLU-3432; THR-3732; LEU-3949; PHE-3964; LYS-4181 AND ASN-4338; The complete sequence and structural analysis of human apolipoprotein B-100: relationship between apoB-100 and apoB-48 forms.
Cladaras C.; Hadzopoulou-Cladaras M.; Nolte R.T.; Atkinson D.; Zannis V.I.;
EMBO J. 5:3495-3507(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-40; VARIANTS VAL-618; VAL-2313; HIS-3319; LYS-3427; GLU-3432; THR-3732; LEU-3949; PHE-3964; LYS-4181 AND ASN-4338; Human apolipoprotein B: structure of carboxyl-terminal domains, sites of gene expression, and chromosomal localization.
Knott T.J.; Rall S.C. Jr.; Innerarity T.L.; Jacobson S.F.; Urdea M.S.; Levy-Wilson B.; Powell L.M.; Pease R.J.; Eddy R.; Nakai H.; Byers M.; Priestley L.M.; Robertson E.; Rall L.B.; Betsholtz C.; Shows T.B.; Mahley R.W.; Scott J.;
Science 230:37-43(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3109-4563; VARIANTS HIS-3319; LYS-3427; GLU-3432; THR-3732; LEU-3949; PHE-3964; LYS-4181 AND ASN-4338; Molecular cloning of human LDL apolipoprotein B cDNA. Evidence for more than one gene per haploid genome.
Shoulders C.C.; Myant N.B.; Sidoli A.; Rodriguez J.C.; Cortese C.; Baralle F.E.; Cortese R.;
Atherosclerosis 58:277-289(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3846-4298; VARIANTS LEU-3949; PHE-3964 AND LYS-4181;
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.