Variant position: 22 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 240 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 KVKKGGGGAGTATESAPGPS GQSVAPIPQPPAESESGSESE
Mouse KVKKGGGGTGSGAEPVPGAS NRSAEPTREPGAEAESGSESE
Rat KVKKGGGGTGPGAEPVPGAS NRSVEPTREPGAEAESGSESE
Bovine KVKKGGGGAGTGAEHAPGAS GPNVEPKPELQAESESGSESE
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 – 240 Protein unc-119 homolog A
1 – 59 Required for midbody localization
37 – 37 Phosphoserine; by CK2
39 – 39 Phosphoserine; by CK2
41 – 41 Phosphoserine; by CK2
37 – 37 S -> A. Loss of phosphorylation; when associated with A-39 and A-41.
39 – 39 S -> A. Loss of phosphorylation; when associated with A-37 and A-41.
41 – 41 S -> A. Loss of phosphorylation; when associated with A-37 and A-39.
A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia.
Gorska M.M.; Alam R.;
Cited for: VARIANT IMD13 VAL-22; CHARACTERIZATION OF VARIANT IMD13 VAL-22;
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.