Variant position: 109 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 325 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 TF---EDVFS----DRSLRKVPWYVLA GNHDHLGNVSAQIAYSKISKR
Mouse TF---EDVFS----DRALRNIPWYVLA GNHDHLGNVSAQIA
Rat TF---EDVFS----DRALRNIPWYVLA GNHDHLGNVSAQIA
Pig TF---EDVFS----DPSLRNVPWHVLA GNHDHLGNVSAQIA
Rabbit TF---EDVFS----DRSLQNVPWYVLA GNHDHIGNVSAQIA
Baker's yeast TFANSDDVLNPYTGEMNAKRHARDFLA QYGYMVENQTSFAV
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
22 – 325 Tartrate-resistant acid phosphatase type 5
110 – 110 Iron 2
116 – 116 N-linked (GlcNAc...) asparagine
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
Lausch E.; Janecke A.; Bros M.; Trojandt S.; Alanay Y.; De Laet C.; Hubner C.A.; Meinecke P.; Nishimura G.; Matsuo M.; Hirano Y.; Tenoutasse S.; Kiss A.; Rosa R.F.; Unger S.L.; Renella R.; Bonafe L.; Spranger J.; Unger S.; Zabel B.; Superti-Furga A.;
Nat. Genet. 43:132-137(2011)
Cited for: VARIANTS SPENCDI MET-52; ARG-109; PRO-201; ARG-215; HIS-262; LYS-264 AND TYR-278 DEL;
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.