Variant position: 56 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 532 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 VILPRGGSVLVTCSTSC-DQP KLLGIETPLPKKELLLPGNNR
Gorilla VILPRGGSVLVTCSTSC-DQP TLLGIETPLPKKELLLLGNN
Rhesus macaque VILPRGGSVKVNCSASC-DQP ISLGMETPLPKKEILPGGNN
Chimpanzee VILPRGGSVQVTCSTSC-DQP DLLGIETPLPKKELLLGGNN
Mouse AFLPQGGSVQVNCSSSC-KED LSLGLETQWLKDELES-GPN
Rat AFLPRGGSVQVNCSSSCEDEN LGLGLETNWMKDELSS-GHN
Bovine AIIPRGDSLTVNCSNSC-DQK STFGLETVLIKEEVGR-GDN
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.
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT KILIFI MET-56; VARIANTS ARG-241; LEU-352; GLN-397 AND TRP-478;
A high frequency African coding polymorphism in the N-terminal domain of ICAM-1 predisposing to cerebral malaria in Kenya.
Fernandez-Reyes D.; Craig A.G.; Kyes S.A.; Peshu N.; Snow R.W.; Berendt A.R.; Marsh K.; Newbold C.I.;
Hum. Mol. Genet. 6:1357-1360(1997)
Cited for: VARIANT KILIFI MET-56; ASSOCIATION WITH SUSCEPTIBILITY TO MALARIA;
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 KILIFI MET-56; VARIANT GLU-469;
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.