Sequence information
Variant position: 52 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:
GDWGGVPNAPFHTAREMANA
K EIARTVQILGADFILSLGDN
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 GDWGGVPNAPFHTAREMANAK EIARTVQILGAD--------FILSLGDN
Mouse GDWGGVPNAPFHTAREMANAK EIARTVQTMGAD--------
Rat GDWGGVPNAPFHTAREMANAK EIARTVQIMGAD--------
Pig GDWGGVPNAPFHTAREMANAK AIATTVKTLGAD--------
Rabbit GDWGGVPNAPFHTAREMANAK QIGKVVQMLGAH--------
Baker's yeast GPYYSFP-GDYGISRDLPEGC EM-KQLQMVGRHGERYPTVS
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
Chain
22 – 325
Tartrate-resistant acid phosphatase type 5
Metal binding
33 – 33
Iron 1
Metal binding
71 – 71
Iron 1
Metal binding
71 – 71
Iron 2
Helix
45 – 61
Literature citations
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;
Disclaimer:
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.