Variant position: 15 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 546 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 MCSLGLFPPPPPRG QVTLYEHNNELVTGSSYESPP
Mouse MCSLGLFPPPPPRG QVTLYEHNNELVTGNSYESPP
Drosophila MAALSNLKQCPP-- ----FSTLPDLALRHNH---I
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 – 1 Removed
2 – 546 Aladin
2 – 2 N-acetylcysteine
33 – 33 Phosphoserine
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.
Handschug K.; Sperling S.; Yoon S.-J.K.; Hennig S.; Clark A.J.L.; Huebner A.;
Hum. Mol. Genet. 10:283-290(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS AAAS LYS-15; 84-TRP--LEU-546 DEL; ARG-160; PRO-263; 286-ARG--LEU-546 DEL AND 342-ARG--LEU-546 DEL; FUNCTION; TISSUE SPECIFICITY;
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.