Variant position: 599 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 667 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 IRIDLAVGDVVKTWRFSNMR QWNVNWDIRQVAIEFDEHINV
Mouse IRIDLAVGDVVKTWRFSNMR QWNVNWDIRQVAIEFDEHINV
Bovine IRIDLSVGDVVKTWRFSNMR QWNVNWDIRQVAIEFDEHINV
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 – 667 Fermitin family homolog 3
591 – 591 Phosphothreonine
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.
Suratannon N.; Yeetong P.; Srichomthong C.; Amarinthnukrowh P.; Chatchatee P.; Sosothikul D.; van Hagen P.M.; van der Burg M.; Wentink M.; Driessen G.J.; Suphapeetiporn K.; Shotelersuk V.;
Pediatr. Allergy Immunol. 27:214-217(2016)
Cited for: VARIANT LAD3 SER-599; CHARACTERIZATION OF VARIANT LAD3 SER-599; FUNCTION;
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.