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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04114: Variant p.Thr3427Lys

Apolipoprotein B-100
Gene: APOB
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Variant information Variant position: help 3427
Type of variant: help LB/B
Residue change: help From Threonine (T) to Lysine (K) at position 3427 (T3427K, p.Thr3427Lys).
Physico-chemical properties: help Change from medium size and polar (T) to large size and basic (K)
BLOSUM score: help -1
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 3427
Protein sequence length: help 4563
Location on the sequence: help EGSHNSTVSLTTKNMEVSVA T TTKAQIPILRMNFKQELNGN
Residue conservation: help 
Human                         EGSHNSTVSLTTKNMEVSVATTTKAQIPILRMNFKQELNGN

Mouse                         KGSHDSTISLTKKNMEASVRTTANLHAPIFSMNFKQELNGN

Rat                           KGSHDSTISLTKKNMEASVKTTANLHAPIFTMNFKQELNGN
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 28 – 4563 Apolipoprotein B-100
Region 3383 – 3516 Heparin-binding
Glycosylation 3411 – 3411 N-linked (GlcNAc...) asparagine



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; DNA sequence of the human apolipoprotein B gene.
Ludwig E.H.; Blackhart B.D.; Pierotti V.R.; Caiati L.; Fortier C.; Knott T.; Scott J.; Mahley R.W.; Levy-Wilson B.; McCarthy B.J.;
DNA 6:363-372(1987)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-2313; HIS-3319; LYS-3427; GLU-3432 AND ASN-4338; The complete cDNA and amino acid sequence of human apolipoprotein B-100.
Chen S.-H.; Yang C.-Y.; Chen P.-F.; Setzer D.; Tanimura M.; Li W.-H.; Gotto A.M. Jr.; Chan L.;
J. Biol. Chem. 261:12918-12921(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ILE-98; VAL-618; VAL-2313; HIS-3319; LYS-3427; GLU-3432 AND ASN-4338; Human liver apolipoprotein B-100 cDNA: complete nucleic acid and derived amino acid sequence.
Law S.W.; Grant S.M.; Higuchi K.; Hospattankar A.V.; Lackner K.J.; Lee N.; Brewer H.B. Jr.;
Proc. Natl. Acad. Sci. U.S.A. 83:8142-8146(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ASN-2037; VAL-2313; HIS-3319; LYS-3427; GLU-3432; LEU-3949; 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; Analysis of the human apolipoprotein B gene; complete structure of the B-74 region.
Carlsson P.; Darnfors C.; Olofsson S.O.; Bjursell G.;
Gene 49:29-51(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1282-4503; VARIANTS VAL-2313; HIS-3319; LYS-3427; GLU-3432; THR-3732 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; Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia.
Leren T.P.; Bakken K.S.; Hoel V.; Hjermann I.; Berg K.;
Hum. Genet. 102:44-49(1998)
Cited for: VARIANTS SER-1914; ARG-1923; LEU-2739; HIS-3319; LYS-3427; GLU-3432 AND ILE-3921;
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.