UniProtKB/Swiss-Prot O95470: Variant p.Ile184Thr

Sphingosine-1-phosphate lyase 1
Gene: SGPL1
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Variant information Variant position:

184 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 Isoleucine (I) to Threonine (T) at position 184 (I184T, p.Ile184Thr). 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 (I) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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
Variant description:

Found in patients with atypical form of axonal peripheral neuropathy, characterized by acute or subacute onset and episodes of recurrent mononeuropathy; likely pathogenic. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs201533115 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

YGDFAWSNPLHPDIFPGLRK I EAEIVRIACSLFNGGPDSCG 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                         YGDFAWSNPLHPDIFPGLRKIEAEIVRIACSLFNGGPDSCG

Mouse                         YGEFTWSNPLHPDIFPGLRKLEAEIVRMTCSLFNGGPDSCG

Rat                           YGEFTWSNPLHPDIFPGLRKLEAEIVRMTCSLFNGGPDSCG

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
Chain	1 – 568	Sphingosine-1-phosphate lyase 1
Topological domain	62 – 568	Cytoplasmic
Helix	179 – 195

Literature citations
Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.
Atkinson D.; Nikodinovic Glumac J.; Asselbergh B.; Ermanoska B.; Blocquel D.; Steiner R.; Estrada-Cuzcano A.; Peeters K.; Ooms T.; De Vriendt E.; Yang X.L.; Hornemann T.; Milic Rasic V.; Jordanova A.;
Neurology 88:533-542(2017)
Cited for: VARIANTS THR-184 AND 361-SER--HIS-568 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.