UniProtKB/Swiss-Prot P06727: Variant p.Gln380His

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

380 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 Glutamine (Q) to Histidine (H) at position 380 (Q380H, p.Gln380His). 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:

Similar physico-chemical property. Both residues are medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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.
Variant description:

In allele APOA-IV*2 and allele APOA-IV*0A; associated with E-187 in allele APOA-IV*0A. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs5110 [ dbSNP | Ensembl ]

Sequence information Variant position:

380 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:

EKESQDKTLSLPELEQQQEQ Q QEQQQEQVQMLAPLES 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                         EKESQDKTLSLPELEQQQEQQQEQQQEQVQMLAPLES

                              EKESQDTPVALPKQEQEQSA------------VPLES

Mouse                         KKGSPDQPQALPLPEQAQEQAQEQAQEQVQ-PKPLES

Rat                           KKGSPDQPLALPLPEQVQEQVQEQVQP-----KPLES

Pig                           EEASQGQSQALPAQEKAQ--------------APLEG

Bovine                        EKESQ--APALPAQEEMP--------------VPLGG

Cat                           EKENQDRPLALPEQEQAP--------------GPLES

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
Region	361 – 396	Disordered
Compositional bias	369 – 396	Polar residues

Literature citations
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 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; 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; Genetic polymorphism of human plasma apolipoprotein A-IV is due to nucleotide substitutions in the apolipoprotein A-IV gene.
Lohse P.; Kindt M.R.; Rader D.J.; Brewer H.B. Jr.;
J. Biol. Chem. 265:10061-10064(1990)
Cited for: POLYMORPHISM; ALLELES APOA-IV*1 AND APOA-IV*2; VARIANT HIS-380; The mutation causing the common apolipoprotein A-IV polymorphism is a glutamine to histidine substitution of amino acid 360.
Tenkanen H.; Lukka M.; Jauhiainen M.; Metso J.; Baumann M.; Peltonen L.; Ehnholm C.;
Arterioscler. Thromb. 11:851-856(1991)
Cited for: VARIANT HIS-380; Three genetic variants of human plasma apolipoprotein A-IV: apoA-IV-1(Thr-347-->Ser), apoA-IV-0(Lys-167-->Glu,Gln-360-->His), and apoA-IV-3(Glu-165-->Lys).
Lohse P.; Kindt M.R.; Rader D.J.; Brewer H.B. Jr.;
J. Biol. Chem. 266:13513-13518(1991)
Cited for: POLYMORPHISM; ALLELES A-IV*0; A-IV*1; A-IV*2 AND A-IV*3; VARIANTS LYS-185; GLU-187; SER-367 AND HIS-380; Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.
Halushka M.K.; Fan J.-B.; Bentley K.; Hsie L.; Shen N.; Weder A.; Cooper R.; Lipshutz R.; Chakravarti A.;
Nat. Genet. 22:239-247(1999)
Cited for: VARIANT HIS-380;

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.