UniProtKB/Swiss-Prot P17405: Variant p.Val36Ala

Sphingomyelin phosphodiesterase
Gene: SMPD1
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Variant information Variant position:

36 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Valine (V) to Alanine (A) at position 36 (V36A, p.Val36Ala). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and hydrophobic (V) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

A common polymorphism arises from a variable number of hexanucleotide repeat sequence within the signal peptide region. Additional information on the polymorphism described.
Variant description:

Does not affect enzymatic activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1050228 [ dbSNP | Ensembl ]

Sequence information Variant position:

36 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

631 The length of the canonical sequence.
Location on the sequence:

GREQGQDGTAGAPGLLWMGL V LALALALALALALSDSRVLW 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                         GREQGQDGTAGAP--GLLWMGLVLALALALALALALSDSRVLW

Mouse                         GWEQRLERSLPAPRVGLLWMG------LGLALVLALFDSTV

Bovine                        GREQASDRSLGAPCLRLLWLG--------LALALALPNSPV

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
Signal peptide	1 – 46

Literature citations
Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1).
Schuchman E.H.; Levran O.; Pereira L.V.; Desnick R.J.;
Genomics 12:197-205(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS 36-VAL--LEU-39 DEL AND ALA-36; Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Ranganath P.; Matta D.; Bhavani G.S.; Wangnekar S.; Jain J.M.; Verma I.C.; Kabra M.; Puri R.D.; Danda S.; Gupta N.; Girisha K.M.; Sankar V.H.; Patil S.J.; Ramadevi A.R.; Bhat M.; Gowrishankar K.; Mandal K.; Aggarwal S.; Tamhankar P.M.; Tilak P.; Phadke S.R.; Dalal A.;
Am. J. Med. Genet. A 170:2719-2730(2016)
Cited for: VARIANTS ALA-36; PHE-510 AND GLY-605; VARIANTS NPDA ARG-216; CYS-230; SER-255; ARG-319; PRO-324; ARG-343; ARG-363; HIS-391; ARG-393; SER-426; ILE-494; HIS-498; ARG-535 AND HIS-602; VARIANTS NPDB PRO-105; PHE-282; ASP-320; CYS-369; SER-465; LEU-520 AND LYS-549; Alleged detrimental mutations in the SMPD1 gene in patients with Niemann-Pick disease.
Rhein C.; Muehle C.; Kornhuber J.; Reichel M.;
Int. J. Mol. Sci. 16:13649-13652(2015)
Cited for: CHARACTERIZATION OF VARIANT NPDB ALA-325; CHARACTERIZATION OF VARIANTS ALA-36; VAL-487 AND ARG-508; CATALYTIC ACTIVITY;

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.