Variant position: 246 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 QAWGERLRARMEEMGSRTRD RLDEVKEQVAEVRAKLEEQAQ
Gorilla QAWGERLRARMEEMGSRTRD RLDEVKEQVAEVRAKLEEQAQ
Rhesus macaque QA---KLRARMEEMGSRTRD RLDEVKEQVAEVRAKLEEQAQ
Chimpanzee QAWGERLRARMEEMGSRTRD RLDEVKEQVAEVRAKLEEQAQ
Mouse QAFGDRIRGRLEEVGNQARD RLEEVREHMEEVRSKMEEQTQ
Rat QALSDRIRGRLEEVGNQARD RLEEVREQMEEVRSKMEEQTQ
Pig EAWGQKLRGRLEEMGSRTRD RLDEMRDELEEVRTKVEEQGS
Bovine EAWRQKLHGRLEEVGVRAQD RLDKIRQQLEEVHAKVEEQGN
Rabbit QAWGERLRGHLEEVGSRARD RLNEVREQVEEVRVKVEEQAP
Sheep EAWRQKLHGRLEEVGVRAQD RLDKMRQQLEEVRSKVEEQGS
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
19 – 317 Apolipoprotein E
234 – 255 8
80 – 255 8 X 22 AA approximate tandem repeats
210 – 290 Lipid-binding and lipoprotein association
Apolipoprotein E2-Dunedin (228 Arg replaced by Cys): an apolipoprotein E2 variant with normal receptor-binding activity.
Wardell M.R.; Rall S.C. Jr.; Brennan S.O.; Nye E.R.; George P.M.; Janus E.D.; Weisgraber K.H.;
J. Lipid Res. 31:535-543(1990)
Cited for: VARIANT CYS-246;
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.