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 EKESQDKTLSLPELEQQQEQQ QEQQQEQVQMLAPLES
EKESQDTPVALPKQEQEQSA- -----------VPLES
Mouse KKGSPDQPQALPLPEQAQEQA QEQAQEQVQ-PKPLES
Rat KKGSPDQPLALPLPEQVQEQV QEQVQP-----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
Compositional bias
372 – 389
Gln/Glu-rich
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; VARIANT APOA-IV*2 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; SER-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; VARIANT APOA-IV*2 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.