Variant position: 269 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 317 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 EVKEQVAEVRAKLEEQAQQI RLQAEAFQARLKSWFEPLVED
Gorilla EVKEQVAEVRAKLEEQAQQI RLQAEAFQARLKSWFEPLVED
Rhesus macaque EVKEQVAEVRAKLEEQAQQI SLQAEAFQARLKSWFEPLVED
Chimpanzee EVKEQVAEVRAKLEEQAQQI RLQAEAFQARLKSWFEPLVED
Mouse EVREHMEEVRSKMEEQTQQI RLQAEIFQARLKGWFEPIVED
Rat EVREQMEEVRSKMEEQTQQI RLQAEIFQARIKGWFEPLVED
Pig EMRDELEEVRTKVEEQGSQL RLQAEAFQARLKGWFEPLVED
Bovine KIRQQLEEVHAKVEEQGNQM RLQAEAFQARLRSWFEPLVED
Rabbit EVREQVEEVRVKVEEQAPQM RLQAEAFQARLKSWFEPLVED
Sheep KMRQQLEEVRSKVEEQGSQI RLQAEAFQARLRSWFEPLVED
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.
Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: no cosegregation with severe hyperlipidemia.
van den Maagdenberg A.M.J.M.; Weng W.; de Bruijn I.H.; de Knijff P.; Funke H.; Smelt A.H.M.; Leuven J.A.G.; van 't Hooft F.M.; Assmann G.; Hofker M.H.; Havekes L.M.; Frants R.R.;
Am. J. Hum. Genet. 52:937-946(1993)
Cited for: VARIANTS GLU-254; GLY-269; GLU-270; HIS-292 AND ARG-314;
Apolipoprotein E R112; R251G: a carboxy-terminal variant found in patients with hyperlipidemia and coronary heart disease.
Kang A.K.; Jenkins D.J.A.; Wolever T.M.S.; Huff M.W.; Maguire G.F.; Connelly P.W.; Hegele R.A.;
Mutat. Res. 382:57-65(1997)
Cited for: VARIANTS ARG-130 AND GLY-269;
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.