UniProtKB/Swiss-Prot P04114: Variant p.Thr98Ile

Apolipoprotein B-100
Gene: APOB
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Variant information Variant position:

98 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Threonine (T) to Isoleucine (I) at position 98 (T98I, p.Thr98Ile). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and polar (T) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

Genetic variations in APOB define the low density lipoprotein cholesterol level quantitative trait locus 4 (LDLCQ4) [MIM:615558]. Additional information on the polymorphism described.
Variant description:

Influences plasma concentrations of low density lipoprotein cholesterol. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1367117 [ dbSNP | Ensembl ]

Sequence information Variant position:

98 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

4563 The length of the canonical sequence.
Location on the sequence:

CKVELEVPQLCSFILKTSQC T LKEVYGFNPEGKALLKKTKN The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         CKVELEVPQLCSFILKTSQCTLKEVYGFNPEGKALLKKTKN

Mouse                         CKVELEVPQICGFIMRTNQCTLKEVYGFNPEGKALMKKTKN

Rat                           CKVELEVPQVCTLIMRTSQCTLKEVYGFNPEGKALMKKTKN

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	28 – 4563	Apolipoprotein B-100
Chain	28 – 2179	Apolipoprotein B-48
Domain	46 – 672	Vitellogenin
Region	32 – 126	Heparin-binding

Literature citations
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; Analysis of cDNA clones encoding the entire B-26 region of human apolipoprotein B.
Protter A.A.; Hardman D.A.; Sato K.Y.; Schilling J.W.; Yamanaka M.; Hort Y.J.; Hjerrild K.A.; Chen G.C.; Kane J.P.;
Proc. Natl. Acad. Sci. U.S.A. 83:5678-5682(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1670; VARIANTS ILE-98 AND ASP-1670; Isolation and characterization of sulfhydryl and disulfide peptides of human apolipoprotein B-100.
Yang C.Y.; Kim T.W.; Weng S.A.; Lee B.R.; Yang M.L.; Gotto A.M. Jr.;
Proc. Natl. Acad. Sci. U.S.A. 87:5523-5527(1990)
Cited for: PARTIAL PROTEIN SEQUENCE; DISULFIDE BONDS; VARIANT ILE-98; Biological, clinical and population relevance of 95 loci for blood lipids.
Teslovich T.M.; Musunuru K.; Smith A.V.; Edmondson A.C.; Stylianou I.M.; Koseki M.; Pirruccello J.P.; Ripatti S.; Chasman D.I.; Willer C.J.; Johansen C.T.; Fouchier S.W.; Isaacs A.; Peloso G.M.; Barbalic M.; Ricketts S.L.; Bis J.C.; Aulchenko Y.S.; Thorleifsson G.; Feitosa M.F.; Chambers J.; Orho-Melander M.; Melander O.; Johnson T.; Li X.; Guo X.; Li M.; Shin Cho Y.; Jin Go M.; Jin Kim Y.; Lee J.Y.; Park T.; Kim K.; Sim X.; Twee-Hee Ong R.; Croteau-Chonka D.C.; Lange L.A.; Smith J.D.; Song K.; Hua Zhao J.; Yuan X.; Luan J.; Lamina C.; Ziegler A.; Zhang W.; Zee R.Y.; Wright A.F.; Witteman J.C.; Wilson J.F.; Willemsen G.; Wichmann H.E.; Whitfield J.B.; Waterworth D.M.; Wareham N.J.; Waeber G.; Vollenweider P.; Voight B.F.; Vitart V.; Uitterlinden A.G.; Uda M.; Tuomilehto J.; Thompson J.R.; Tanaka T.; Surakka I.; Stringham H.M.; Spector T.D.; Soranzo N.; Smit J.H.; Sinisalo J.; Silander K.; Sijbrands E.J.; Scuteri A.; Scott J.; Schlessinger D.; Sanna S.; Salomaa V.; Saharinen J.; Sabatti C.; Ruokonen A.; Rudan I.; Rose L.M.; Roberts R.; Rieder M.; Psaty B.M.; Pramstaller P.P.; Pichler I.; Perola M.; Penninx B.W.; Pedersen N.L.; Pattaro C.; Parker A.N.; Pare G.; Oostra B.A.; O'Donnell C.J.; Nieminen M.S.; Nickerson D.A.; Montgomery G.W.; Meitinger T.; McPherson R.; McCarthy M.I.; McArdle W.; Masson D.; Martin N.G.; Marroni F.; Mangino M.; Magnusson P.K.; Lucas G.; Luben R.; Loos R.J.; Lokki M.L.; Lettre G.; Langenberg C.; Launer L.J.; Lakatta E.G.; Laaksonen R.; Kyvik K.O.; Kronenberg F.; Konig I.R.; Khaw K.T.; Kaprio J.; Kaplan L.M.; Johansson A.; Jarvelin M.R.; Janssens A.C.; Ingelsson E.; Igl W.; Kees Hovingh G.; Hottenga J.J.; Hofman A.; Hicks A.A.; Hengstenberg C.; Heid I.M.; Hayward C.; Havulinna A.S.; Hastie N.D.; Harris T.B.; Haritunians T.; Hall A.S.; Gyllensten U.; Guiducci C.; Groop L.C.; Gonzalez E.; Gieger C.; Freimer N.B.; Ferrucci L.; Erdmann J.; Elliott P.; Ejebe K.G.; Doring A.; Dominiczak A.F.; Demissie S.; Deloukas P.; de Geus E.J.; de Faire U.; Crawford G.; Collins F.S.; Chen Y.D.; Caulfield M.J.; Campbell H.; Burtt N.P.; Bonnycastle L.L.; Boomsma D.I.; Boekholdt S.M.; Bergman R.N.; Barroso I.; Bandinelli S.; Ballantyne C.M.; Assimes T.L.; Quertermous T.; Altshuler D.; Seielstad M.; Wong T.Y.; Tai E.S.; Feranil A.B.; Kuzawa C.W.; Adair L.S.; Taylor H.A. Jr.; Borecki I.B.; Gabriel S.B.; Wilson J.G.; Holm H.; Thorsteinsdottir U.; Gudnason V.; Krauss R.M.; Mohlke K.L.; Ordovas J.M.; Munroe P.B.; Kooner J.S.; Tall A.R.; Hegele R.A.; Kastelein J.J.; Schadt E.E.; Rotter J.I.; Boerwinkle E.; Strachan D.P.; Mooser V.; Stefansson K.; Reilly M.P.; Samani N.J.; Schunkert H.; Cupples L.A.; Sandhu M.S.; Ridker P.M.; Rader D.J.; van Duijn C.M.; Peltonen L.; Abecasis G.R.; Boehnke M.; Kathiresan S.;
Nature 466:707-713(2010)
Cited for: INVOLVEMENT IN LDLCQ4; VARIANT ILE-98; A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
Burnett J.R.; Shan J.; Miskie B.A.; Whitfield A.J.; Yuan J.; Tran K.; McKnight C.J.; Hegele R.A.; Yao Z.;
J. Biol. Chem. 278:13442-13452(2003)
Cited for: VARIANT FHBL1 TRP-490; VARIANT ILE-98; CHARACTERIZATION OF VARIANT TRP-490; MUTAGENESIS OF ASP-483 AND ARG-490; Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.
Huijgen R.; Sjouke B.; Vis K.; de Randamie J.S.; Defesche J.C.; Kastelein J.J.; Hovingh G.K.; Fouchier S.W.;
Hum. Mutat. 33:448-455(2012)
Cited for: VARIANTS 12-LEU--LEU-14 DEL; ILE-98; VAL-618; ILE-730; THR-1613; ARG-1923; LYS-2566; LEU-2739; GLN-3638; LEU-3835; LYS-4181; THR-4270; VAL-4314; ASN-4338; THR-4481 AND VAL-4482;

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.