Sequence information
Variant position: 81 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 652 The length of the canonical sequence.
Location on the sequence:
TFSLATLMPYTRLTQLNLDR
C ELTKLQVDGTLPVLGTLDLS
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 TFSLATLMPYTRLTQLNLDRC ELTKLQVDGTLPVLGTLDLS
AFSTALLGPLTRLAQLHLRQS QLTQLQVDGMLPRLETLDVS
Mouse TFSTASLVHFTHLTYLYLDRC ELTSLQTNGKLIKLENLDLS
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
17 – 652
Platelet glycoprotein Ib alpha chain
Chain
17 – 506
Glycocalicin
Topological domain
17 – 531
Extracellular
Repeat
72 – 93
LRR 2
Literature citations
Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein.
Kenny D.; Jonsson O.G.; Morateck P.A.; Montgomery R.R.;
Blood 92:175-183(1998)
Cited for: VARIANT BSS ARG-81;
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.