Variant position: 56 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 500 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 SLQDRGEGKVATTVISKMLF VEPILEVSSLPTTNSTTNSAT
Mouse EAQAKSRESFPERDDSW--- -SPP-EPTVLPSTWPTTSVAI
Rat VVQEGSRDSVPERDGSR--- -SPI-EHTGQSSTWPTTSGST
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
23 – 500 Plasma protease C1 inhibitor
47 – 47 O-linked (GalNAc...) threonine
48 – 48 O-linked (GalNAc...) threonine
64 – 64 O-linked (GalNAc...) serine
69 – 69 N-linked (GlcNAc...) asparagine
71 – 71 O-linked (GalNAc...) threonine
Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations.
Kang H.-R.; Yim E.-Y.; Oh S.-Y.; Chang Y.-S.; Kim Y.-K.; Cho S.-H.; Min K.-U.; Kim Y.-Y.;
Cited for: VARIANT HAE ARG-345; VARIANTS ALA-56 AND MET-480;
Mutational spectrum and geno-phenotype correlation in Chinese families with Hereditary Angioedema.
Xu Y.Y.; Zhi Y.X.; Yin J.; Wang L.L.; Wen L.P.; Gu J.Q.; Guan K.; Craig T.; Zhang H.Y.;
Cited for: VARIANTS HAE ALA-118; CYS-154; PHE-170; ARG-184; PRO-230; LYS-232; ASN-272 DEL; ARG-299; GLN-430; THR-441; PRO-447; SER-466; CYS-466; LEU-466; GLY-473 AND GLY-497; VARIANTS ALA-56 AND MET-480;
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.