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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17405: Variant p.Cys94Trp

Sphingomyelin phosphodiesterase
Gene: SMPD1
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Variant information Variant position: help 94
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Tryptophan (W) at position 94 (C94W, p.Cys94Trp).
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (W)
BLOSUM score: help -2
Variant description: help In NPDB.


Sequence information Variant position: help 94
Protein sequence length: help 631
Location on the sequence: help HRIVPRLRDVFGWGNLTCPI C KGLFTAINLGLKKEPNVARV
Residue conservation: help 
Human                         HRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARV

Mouse                         SAIAPPLQSAFGWQNLTCPACKVLFTALNHGLKKEPNVARV

Bovine                        IRIAPQLQEAFGWWNLTCPTCKGLFTAIDFGLRNQASVAWV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 47 – 631 Sphingomyelin phosphodiesterase
Domain 87 – 171 Saposin B-type
Glycosylation 88 – 88 N-linked (GlcNAc...) asparagine
Disulfide bond 91 – 167
Disulfide bond 94 – 159
Alternative sequence 106 – 106 Missing. In isoform 4.
Mutagenesis 88 – 88 N -> G. No effect on sphingomyelin phosphodiesterase activity. No effect on secretion.
Helix 90 – 105



Literature citations
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
Simonaro C.M.; Desnick R.J.; McGovern M.M.; Wasserstein M.P.; Schuchman E.H.;
Am. J. Hum. Genet. 71:1413-1419(2002)
Cited for: VARIANTS NPDB VAL-51; TRP-94; PRO-139; ARG-159; PRO-198; CYS-202; MET-227; CYS-230; ASP-234; SER-247; ARG-250; HIS-291; ALA-325; ARG-332; ASP-359; HIS-378; LEU-378; PRO-381; VAL-415; TYR-423; ARG-433; PRO-434; CYS-437; VAL-454; ASP-458; TRP-476; LEU-477; LEU-482; ASN-490; SER-496; CYS-498; GLN-516; VAL-517; ARG-535; PRO-551; ASN-578; HIS-602 AND PRO-602; VARIANT VAL-487;
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.