Variant position: 36 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:
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 GLPISMKIFMYLLTVFLITQ MIGSALFAVYLHRRLDKIEDE
Rhesus macaque GLPVRMKIFMYLLTIFLITQ MIGSALFAVYLHRRLDKIEDE
Mouse GLPASMKIFMYLLTVFLITQ MIGSVLFAVYLHRRLDKVEEE
Rat GLPASMKIFMYLLTVFLITQ MIGSVPFAVYLHRRLDKVEEE
Pig GPPVSMKIFMYLLTVFLITQ MIGSALFAAYLHRRLDKIEDE
Bovine GPPVSMKIFMYLLTVFLITQ MIGSALFAVYLHRRLDKIEDE
Cat GPPVSMKIFMYLLTVFLITQ MIGSALFAVYLHRRLDKIEDE
Chicken TSPSTMKMFMCFLSVFMVVQ TIGTVLFCLYLHMKMDKMEEV
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
1 – 261 CD40 ligand, membrane form
23 – 46 Helical; Signal-anchor for type II membrane protein
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.
Korthaeuer U.; Graf D.; Mages H.W.; Briere F.; Padayachee M.; Malcolm S.; Ugazio A.G.; Notarangelo L.D.; Levinsky R.J.; Kroczek R.A.;
Cited for: VARIANTS HIGM1 ARG-36 AND GLY-140;
Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.
Nonoyama S.; Shimadzu M.; Toru H.; Seyama K.; Nunoi H.; Neubauer M.; Yata J.; Och H.D.;
Hum. Genet. 99:624-627(1997)
Cited for: VARIANTS HIGM1 ARG-36; CYS-140; GLY-227 DEL; SER-231 AND MET-254;
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.