UniProtKB/Swiss-Prot P13671: Variant p.Ala119Glu

Complement component C6
Gene: C6
Feedback?

Variant information Variant position:

119 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 Alanine (A) to Glutamate (E) at position 119 (A119E, p.Ala119Glu). 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 small size and hydrophobic (A) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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:

The sequence shown is that of allotype C6 B. Additional information on the polymorphism described.
Variant description:

In allotype C6 A. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1801033 [ dbSNP | Ensembl ]

Sequence information Variant position:

119 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

934 The length of the canonical sequence.
Location on the sequence:

KQSKVRSVLRPSQFGGQPCT A PLVAFQPCIPSKLCKIEEAD 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                         KQSKVRSVLRPSQFGGQPCTAPLVAFQPCIPSKLCKIEEAD

Chimpanzee                    KQSKVRSVLRPSQFGGQPCTEPLVAFQPCIPSKLCKIEEAD

Rat                           KQVKVRSVLRPSQFGGQPCTEPLVTFQPCVPSELCKIEETD

Bovine                        KRFKVRSILRPSQFGGQPCTEPLMTFQPCIPSKLCKIEEID

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	22 – 934	Complement component C6
Domain	81 – 134	TSP type-1 2
Disulfide bond	93 – 127
Disulfide bond	96 – 133

Literature citations
The molecular architecture of human complement component C6.
Discipio R.G.; Hugli T.E.;
J. Biol. Chem. 264:16197-16206(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLU-119; Structure of the human C6 gene.
Hobart M.J.; Fernie B.; Discipio R.G.;
Biochemistry 32:6198-6205(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLU-119; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT GLU-119; Structural homology of complement protein C6 with other channel-forming proteins of complement.
Chakravarti D.N.; Chakravarti B.; Parra C.A.; Mueller-Eberhard H.J.;
Proc. Natl. Acad. Sci. U.S.A. 86:2799-2803(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-491; VARIANT GLU-119; Polymorphism of human complement component C6: an amino acid substitution (Glu/Ala) within the second thrombospondin repeat differentiates between the two common allotypes C6 A and C6 B.
Dewald G.; Nothen M.M.; Cichon S.;
Biochem. Biophys. Res. Commun. 194:458-464(1993)
Cited for: VARIANT ALLOTYPE C6 A GLU-119;

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.