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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17405: Variant p.Tyr539His

Sphingomyelin phosphodiesterase
Gene: SMPD1
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Variant information Variant position: help 539
Type of variant: help LP/P [Disclaimer]
Residue change: help From Tyrosine (Y) to Histidine (H) at position 539 (Y539H, p.Tyr539His).
Physico-chemical properties: help Change from large size and aromatic (Y) to medium size and polar (H)
BLOSUM score: help 2
Variant description: help In NPDA.


Sequence information Variant position: help 539
Protein sequence length: help 631
Location on the sequence: help YILNLTQANIPGAIPHWQLL Y RARETYGLPNTLPTAWHNLV
Residue conservation: help 
Human                         YILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLV

Mouse                         YILNLTQANAAGGTPSWKRLYRARETYGLPDAMPASWHNLV

Bovine                        YIMNLTEANEPGATPHWYLLYRARETYGLPNALPTAWHDLV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 47 – 631 Sphingomyelin phosphodiesterase
Chain 254 – 631 Sphingomyelin phosphodiesterase, processed form
Glycosylation 522 – 522 N-linked (GlcNAc...) asparagine
Mutagenesis 522 – 522 N -> G. Loss of sphingomyelin phosphodiesterase activity. Loss of secretion.
Beta strand 536 – 540



Literature citations
Seven novel Acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients.
Sikora J.; Pavluu-Pereira H.; Elleder M.; Roelofs H.; Wevers R.A.;
Ann. Hum. Genet. 67:63-70(2003)
Cited for: VARIANTS NPDA ARG-250; TYR-321; SER-465; LEU-477 AND HIS-539; VARIANTS NPDB SER-373 AND ARG-610 DEL; Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
Hollak C.E.; de Sonnaville E.S.; Cassiman D.; Linthorst G.E.; Groener J.E.; Morava E.; Wevers R.A.; Mannens M.; Aerts J.M.; Meersseman W.; Akkerman E.; Niezen-Koning K.E.; Mulder M.F.; Visser G.; Wijburg F.A.; Lefeber D.; Poorthuis B.J.;
Mol. Genet. Metab. 107:526-533(2012)
Cited for: VARIANTS NPDB HIS-91; PRO-105; PRO-163; CYS-230; SER-373; PRO-551 AND ARG-610 DEL; VARIANTS NPDA ARG-250; SER-465; LEU-477 AND HIS-539;
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.