UniProtKB/Swiss-Prot P06727: Variant p.Ser147Asn

Apolipoprotein A-IV
Gene: APOA4
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Variant information Variant position:

147 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 Serine (S) to Asparagine (N) at position 147 (S147N, p.Ser147Asn). 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 small size and polar (S) to medium size and polar (N) 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:

Eight alleles have been characterized (APOA-IV*0 to APOA-IV*7). APOA-IV*1 is the major allele (90%), APOA-IV*2 is also common (8%), the others are rare alleles. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs5104 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

NLRELQQRLEPYADQLRTQV S TQAEQLRRQLTPYAQRMERV 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                         NLRELQQRLEPYADQLRTQVSTQAEQLRRQLTPYAQRMERV

                              NTH-LSQAVGPYAEELRTQVNTHAEQLRNQLTSHAQRMQSA

Mouse                         NMQKLQEHLKPYAVDLQDQINTQTQEMKLQLTPYIQRMQTT

Rat                           NVQKLQEHLRPYATDLQAQINAQTQDMKRQLTPYIQRMQTT

Pig                           NVRELQQRLGPFTGGLRTQVNTQVQQLQRQLKPYAERMESV

Bovine                        NVRELQQRLGPYAEELRTQVDTQAQQLRRQLTPYVERMEKV

Cat                           NVRELQQRLGPYADELRTQVNTHAEHLRRHLTSHAQRMEAV

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	21 – 396	Apolipoprotein A-IV
Repeat	137 – 158	5
Region	33 – 330	13 X 22 AA approximate tandem repeats
Helix	117 – 223

Literature citations
Structure, evolution, and tissue-specific synthesis of human apolipoprotein AIV.
Karathanasis S.K.; Yunis I.;
Biochemistry 25:3962-3970(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ASN-147 AND LYS-279; Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4).
Karathanasis S.K.; Oettgen P.; Haddad I.A.; Antonarakis S.E.;
Proc. Natl. Acad. Sci. U.S.A. 83:8457-8461(1986)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ASN-147 AND LYS-279; Structure and expression of the human apolipoprotein A-IV gene.
Elshourbagy N.A.; Walker D.W.; Paik Y.K.; Boguski M.S.; Freeman M.; Gordon J.I.; Taylor J.M.;
J. Biol. Chem. 262:7973-7981(1987)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; POLYMORPHISM; VARIANTS ASN-147 AND HIS-380; The primary structure of human apolipoprotein A-IV.
Yang C.; Gu Z.W.; Xiong W.; Rosseneu M.; Yang H.X.; Lee B.M.; Gotto A.M. Jr.; Chan L.;
Biochim. Biophys. Acta 1002:231-237(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ASN-147; The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster.
Fullerton S.M.; Buchanan A.V.; Sonpar V.A.; Taylor S.L.; Smith J.D.; Carlson C.S.; Salomaa V.; Stengaard J.H.; Boerwinkle E.; Clark A.G.; Nickerson D.A.; Weiss K.M.;
Hum. Genet. 115:36-56(2004)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS MET-13; HIS-77; ASN-147; SER-161; SER-367 AND HIS-380; Human chromosome 11 DNA sequence and analysis including novel gene identification.
Taylor T.D.; Noguchi H.; Totoki Y.; Toyoda A.; Kuroki Y.; Dewar K.; Lloyd C.; Itoh T.; Takeda T.; Kim D.-W.; She X.; Barlow K.F.; Bloom T.; Bruford E.; Chang J.L.; Cuomo C.A.; Eichler E.; FitzGerald M.G.; Jaffe D.B.; LaButti K.; Nicol R.; Park H.-S.; Seaman C.; Sougnez C.; Yang X.; Zimmer A.R.; Zody M.C.; Birren B.W.; Nusbaum C.; Fujiyama A.; Hattori M.; Rogers J.; Lander E.S.; Sakaki Y.;
Nature 440:497-500(2006)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ASN-147; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ASN-147; The nucleotide and derived amino acid sequence of human apolipoprotein A-IV mRNA and the close linkage of its gene to the genes of apolipoproteins A-I and C-III.
Elshourbagy N.A.; Walker D.W.; Boguski M.S.; Gordon J.I.; Taylor J.M.;
J. Biol. Chem. 261:1998-2002(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 21-396; VARIANTS ASN-147 AND HIS-380; A novel polymorphism of apolipoprotein A-IV is the result of an asparagine to serine substitution at residue 127.
Tenkanen H.; Koskinen P.; Metso J.; Baumann M.; Lukka M.; Kauppinen-Makelin R.; Kontula K.; Taskinen M.R.; Manttari M.; Manninen V.; Ehnholm C.;
Biochim. Biophys. Acta 1138:27-33(1992)
Cited for: VARIANT ASN-147;

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.