UniProtKB/Swiss-Prot P05155: Variant p.Val56Ala

Plasma protease C1 inhibitor
Gene: SERPING1
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Variant information Variant position:

56 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Valine (V) to Alanine (A) at position 56 (V56A, p.Val56Ala). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and hydrophobic (V) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

Chymotrypsin uses Ala-465 as its reactive site in normal plasma protease C1 inhibitor, and His-466 as its reactive site in the variant His-466. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs11546660 [ dbSNP | Ensembl ]

Sequence information 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:

SLQDRGEGKVATTVISKMLF V EPILEVSSLPTTNSTTNSAT 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                         SLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSAT

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
Chain	23 – 500	Plasma protease C1 inhibitor
Glycosylation	47 – 47	O-linked (GalNAc...) threonine
Glycosylation	48 – 48	O-linked (GalNAc...) threonine
Glycosylation	64 – 64	O-linked (GalNAc...) serine
Glycosylation	69 – 69	N-linked (GlcNAc...) asparagine
Glycosylation	71 – 71	O-linked (GalNAc...) threonine

Literature citations
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.;
Allergy 61:260-264(2006)
Cited for: VARIANT HAE1 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.;
Allergy 67:1430-1436(2012)
Cited for: VARIANTS HAE1 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;

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.