Sequence information
Variant position: 71 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 177 The length of the canonical sequence.
Location on the sequence:
ARTRHLLLANNSLQSVPPGA
F DHLPQLQTLDVTQNPWHCDC
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 ARTRHLLLANNSLQSVPPGAF DHLPQLQTLDVTQNPWHCDC
Mouse AHTRQLLLANNSLRSVPPGAF DHLPQLWDLDVTHNPWHCDC
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 – 177
Platelet glycoprotein IX
Topological domain
17 – 147
Extracellular
Repeat
60 – 83
LRR
Glycosylation
60 – 60
N-linked (GlcNAc...) asparagine
Turn
68 – 73
Literature citations
A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.
Noris P.; Simsek S.; Stibbe J.; von dem Borne A.E.G.K.;
Br. J. Haematol. 97:312-320(1997)
Cited for: VARIANT BSS SER-71;
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.