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UniProtKB/Swiss-Prot P29965: Variant p.Ala123Glu

CD40 ligand
Gene: CD40LG
Variant information

Variant position:  123
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 123 (A123E, p.Ala123Glu).
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

Variant description:  In HIGM1.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  123
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:   EETKKENSFEMQKGDQNPQI  A AHVISEASSKTTSVLQWAEK
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                         EETKKENSFEMQKGDQNPQ----------------IAAHVISEASSKTTSVLQWAEK

                              EMKK-EENIAMQKGDQDPR----------------IAAHVI

Rhesus macaque                EEKKKENSFEMQKGDQNPQ----------------IAAHVI

Mouse                         EEKK-ENSFEMQRGDEDPQ----------------IAAHVV

Rat                           EEKK-EKSFEMQRGDEDPQ----------------IAAHVV

Pig                           EVKKKEKSFEMHKGDQDPQ----------------IAAHVI

Bovine                        EVKKKEKNFEMHKGDQEPQ----------------IAAHVI

Cat                           ETKK-EKNVAMQKGDQDPR----------------VAAHVI

Chicken                       ELPK----FEMHRGHEHPHLKSRNETSVAEEKRQPIATHLA

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.

TypePositionsDescription
Chain 1 – 261 CD40 ligand, membrane form
Chain 113 – 261 CD40 ligand, soluble form
Topological domain 47 – 261 Extracellular
Beta strand 123 – 128


Literature citations

CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM.
Disanto J.P.; Bonnefoy J.-Y.; Gauchat J.-F.; Fischer A.; de Saint Basile G.;
Nature 361:541-543(1993)
Cited for: VARIANT HIGM1 GLU-123;

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.