Variant position: 241 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 VKQLRPLLATYGV----TAYLCGH DHNLQYLQDENGVGYVLSGAG-------------
Mouse VKNLRPLLATYGV----TAYLCGH DHNLQYLQDENGVGYVL
Rat VKNLRPLLAAYGV----TAYLCGH DHNLQYLQDENGVGYVL
Pig VKQLLPLLTTHKV----TAYLCGH DHNLQYLQDENGLGFVL
Rabbit VKKLQPLLVKYGV----TAYLCGH DHNLQYLQDENGVGYVL
Baker's yeast IKSVGSNLFNASVKLLKQSEIQDQ KVWLSFTHDTDILNF-L
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.
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.
Briggs T.A.; Rice G.I.; Daly S.; Urquhart J.; Gornall H.; Bader-Meunier B.; Baskar K.; Baskar S.; Baudouin V.; Beresford M.W.; Black G.C.; Dearman R.J.; de Zegher F.; Foster E.S.; Frances C.; Hayman A.R.; Hilton E.; Job-Deslandre C.; Kulkarni M.L.; Le Merrer M.; Linglart A.; Lovell S.C.; Maurer K.; Musset L.; Navarro V.; Picard C.; Puel A.; Rieux-Laucat F.; Roifman C.M.; Scholl-Burgi S.; Smith N.; Szynkiewicz M.; Wiedeman A.; Wouters C.; Zeef L.A.; Casanova J.L.; Elkon K.B.; Janckila A.; Lebon P.; Crow Y.J.;
Nat. Genet. 43:127-131(2011)
Cited for: VARIANTS SPENCDI ILE-89; ARG-215; ASN-241 AND LYS-264;
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.