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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13686: Variant p.Asn262His

Tartrate-resistant acid phosphatase type 5
Gene: ACP5
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Variant information Variant position: help 262
Type of variant: help LP/P [Disclaimer]
Residue change: help From Asparagine (N) to Histidine (H) at position 262 (N262H, p.Asn262His).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar.
BLOSUM score: help 1
Variant description: help In SPENCDI.
Other resources: help


Sequence information Variant position: help 262
Protein sequence length: help 325
Location on the sequence: help HNLQYLQDENGVGYVLSGAG N FMDPSKRHQRKVPNGYLRFH
Residue conservation: help 
Human                         HNLQYLQDENGVGYVLSGAG-------------NFMDPSKRHQRKVPNG--------------YLR-------------------------FH

Mouse                         HNLQYLQDENGVGYVLSGAG-------------NFMDPSVR

Rat                           HNLQYLQDENGVGYVLSGAG-------------NFMDPSVR

Pig                           HNLQYLQDENGLGFVLSGAG-------------NFMDPSKK

Rabbit                        HNLQYLQDENGVGYVLSGAG-------------NFMDPSTQ

Baker's yeast                 VWLSFTHDTDILNF-LTTAGIIDDKNNLTAEYVPFMGNTFH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 22 – 325 Tartrate-resistant acid phosphatase type 5
Binding site 242 – 242



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.