UniProtKB/Swiss-Prot P29965: Variant p.Gly219Arg

CD40 ligand
Gene: CD40LG
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Variant information Variant position:

219 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 Glycine (G) to Arginine (R) at position 219 (G219R, p.Gly219Arg). 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 glycine (G) to large size and basic (R) 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
Other resources:

Links to websites of interest for the variant.

Variant rs148594123 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GRFERILLRAANTHSSAKPC G QQSIHLGGVFELQPGASVFV 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                         GRFERILLRAANTHSSAK-PCGQQSIHLGGVFELQPGASVFV

                              SGTERVLLRAASSRGSSK-PCGQQSIHLGGVFELHPGASVF

Rhesus macaque                GRFERILLRAANTHSSAK-PCGQQSIHLGGVFELQPGASVF

Mouse                         SGSERILLKAANTHSSSQ-LCEQQSVHLGGVFELQAGASVF

Rat                           SGSERILLRAANTHSSSK-LCEQQSIHLGGVFELQAGASVF

Pig                           SGSERILLRAANTHSSSK-PCGQQSIHLGGVFELQPGASVF

Bovine                        SGSERILLRAANTHSSSK-PCGQQSIHLGGVFELQSGASVF

Cat                           SGSERVLLRAANARSSSK-PCGQQSIHLGGVFELHPGASVF

Chicken                       MEEDRLLMKGLDTHSTSTALCELQSIREGGVFELRQGDMVF

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 – 261	CD40 ligand, membrane form
Chain	113 – 261	CD40 ligand, soluble form
Topological domain	47 – 261	Extracellular
Domain	122 – 261	THD
Mutagenesis	224 – 224	H -> E. Decreases ITGA5:ITGB1 binding, B-cell activation, activation of NF-kappa-B signaling, and anti-apoptotic signaling; when associated with E-226 in soluble form. No effect on CD40 binding; when associated with E-226 in soluble form.
Mutagenesis	226 – 226	G -> E. Decreases ITGA5:ITGB1 binding, B-cell activation, activation of NF-kappa-B signaling, and anti-apoptotic signaling; when associated with E-224 in soluble form. No effect on CD40 binding; when associated with E-224 in soluble form.
Beta strand	219 – 231

Literature citations
A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.
Lin Q.; Rohrer J.; Allen R.C.; Larche M.; Greene J.M.; Shigeoka A.O.; Gatti R.A.; Derauf D.C.; Belmont J.W.; Conley M.E.;
J. Clin. Invest. 97:196-201(1996)
Cited for: VARIANTS HIGM1 PRO-155 AND VAL-227; VARIANT ARG-219;

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.