UniProtKB/Swiss-Prot Q14108: Variant p.Glu471Gly

Lysosome membrane protein 2
Gene: SCARB2
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Variant information Variant position:

471 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 Glutamate (E) to Glycine (G) at position 471 (E471G, p.Glu471Gly). 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 acidic (E) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

May act as a modifier of Gaucher disease. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs755903502 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LVFTWLACKGQGSMDEGTAD E RAPLIRT 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                         LVFTWLACKGQGSMDEGTADERAPLIRT

Mouse                         LVFTWLACRGQGSMDEGTADERAPLIRT

Rat                           LIFTWLACRGQGSTDEGTADERAPLIRT

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 – 478	Lysosome membrane protein 2
Topological domain	460 – 478	Cytoplasmic
Mutagenesis	475 – 475	L -> AGDV. Prevents the targeting of the protein to lysosomes.
Mutagenesis	475 – 475	L -> I. Some loss in the efficiency of targeting of the protein to lysosomes.
Mutagenesis	476 – 476	I -> AV. Does not prevent the targeting of the protein to lysosomes completely.
Mutagenesis	476 – 476	I -> DEG. Prevents the targeting of the protein to lysosomes.
Mutagenesis	476 – 476	I -> L. Normal targeting of the protein to lysosomes.
Mutagenesis	477 – 477	R -> AEGKQ. Normal targeting of the protein to lysosomes.
Mutagenesis	478 – 478	T -> GISV. Normal targeting of the protein to lysosomes.

Literature citations
A mutation in SCARB2 is a modifier in Gaucher disease.
Velayati A.; DePaolo J.; Gupta N.; Choi J.H.; Moaven N.; Westbroek W.; Goker-Alpan O.; Goldin E.; Stubblefield B.K.; Kolodny E.; Tayebi N.; Sidransky E.;
Hum. Mutat. 32:1232-1238(2011)
Cited for: INVOLVEMENT IN GAUCHER DISEASE AS MODIFIER GENE; VARIANT GLY-471;

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.