UniProtKB/Swiss-Prot Q9NNX6: Variant p.Glu214Asp

CD209 antigen
Gene: CD209
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Variant information Variant position:

214 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 Glutamate (E) to Aspartate (D) at position 214 (E214D, p.Glu214Asp). 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:

Similar physico-chemical property. Both residues are medium size and acidic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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:

Genetic variations in the CD209 promoter determine M.tuberculosis susceptibility [MIM:607948] (PubMed:16379498).Genetic variations in CD209 may influence susceptibility or resistance to dengue virus infection, as well as disease progression and severity [MIM:614371]. A promoter polymorphism in the CD209 gene is associated with protection from dengue fever, but not dengue hemorrhagic fever. - Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs11465377 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

QELTRLKAAVGELPEKSKQQ E IYQELTRLKAAVGELPEKSK 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                         QELTR-----------------------LKAAVGELPEKSKQQEIYQELTRLKAAVGELPEKSK

Gorilla                       QELSQLKAAVGELPEKSKQQEIYQELSQLKAAVGELPEKSK

Rhesus macaque                QELSR-----------------------LKAAVGDLPEKSK

Chimpanzee                    QELTRLKAAVGELPEKSKQQEIYQELTQLKAAVGELPEKSK

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	1 – 404	CD209 antigen
Topological domain	59 – 404	Extracellular
Repeat	211 – 233	6
Region	96 – 257	7 X approximate tandem repeats
Alternative sequence	35 – 404	Missing. In isoform 9.
Alternative sequence	74 – 309	Missing. In isoform 4.
Alternative sequence	142 – 233	Missing. In isoform 8.
Alternative sequence	158 – 249	Missing. In isoform 3.
Alternative sequence	191 – 236	Missing. In isoform 11.

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.