Variant position: 61 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 267 The length of the canonical sequence.
Location on the sequence:
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 VYVDVLKDSGRDYVSQFEGS ALGKQLNLKLLDNWDSVTSTF
Gorilla VYVDVLKDSGRDYVSQFEGS ALGKQLNLKLLDNWDSVTSTF
Rhesus macaque VYVEALKDSGKDYVSQFEGS ALGKQLNLKLLDNWDSVTSTV
Chimpanzee VYVDVLKDSGRDYVSQFEGS ALGKQLNLKLLDNWDSVTSTF
Mouse VYVDAVKDSGRDYVSQFESS SLGQQLNLNLLENWDTLGSTV
Rat VYVDAVKDSGRDYVSQFESS TLGKQLNLNLLDNWDTLGSTV
Pig VYVDAIKDSGRDYVAQFEAS ALGKHLNLKLLDNWDSLGSTF
Bovine VYVEAIKDSGRDYVAQFEAS ALGKQLNLKLLDNWDTLASTL
Rabbit VYVDTVKDSGREYVAQFEAS AFGKQLNLKLLDNWDSLSSTV
Chicken VYLETVKASGKDAIAQFESS AVGKQLDLKLADNLDTLSAAA
Zebrafish VYLNQVKDQAEKALDNLDGT DY-EQYKLQLSESLTKLQEYA
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.
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]; VARIANT THR-61;
Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.
Matsunaga T.; Hiasa Y.; Yanagi H.; Maeda T.; Hattori N.; Yamakawa K.; Yamanouchi Y.; Tanaka I.; Obara T.; Hamaguchi H.;
Proc. Natl. Acad. Sci. U.S.A. 88:2793-2797(1991)
Cited for: VARIANT FHA2 108-GLN--GLN-267 DEL; CHARACTERIZATION OF VARIANT FHA2 108-GLN--GLN-267 DEL; VARIANT THR-61;
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.