Variant position: 1149 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2813 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 SCEERNLRENGYECEWRYNS CAPACQVTCQHPEPLACPVQC
Mouse SCEEKNVRENGYECEWRYNS CAPACPVTCQHPEPLACPVQC
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
764 – 2813 von Willebrand factor
1146 – 1196 TIL 4
1147 – 1147 N-linked (GlcNAc...); atypical
1149 – 1169
315 – 2813 Missing. In isoform 2.
1149 – 1149 C -> R. Reduced secretion and increased intracellular retention. Similar phenotype; when associated with S-1169.
1169 – 1169 C -> S. Reduced secretion and increased intracellular retention. Similar phenotype; when associated with R-1149.
Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins.
Bodo I.; Katsumi A.; Tuley E.A.; Eikenboom J.C.; Dong Z.; Sadler J.E.;
Cited for: VARIANT VWD1 ARG-1149; MUTAGENESIS OF CYS-1149 AND CYS-1169;
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.