UniProtKB/Swiss-Prot P16278: Variant p.Gly554Glu

Beta-galactosidase
Gene: GLB1
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Variant information Variant position:

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

US 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 Glycine (G) to Glutamate (E) at position 554 (G554E, p.Gly554Glu). 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 glycine (G) to medium size and acidic (E) 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:

In GM1-gangliosidosis; unclassified clinical type. Any additional useful information about the variant.

Sequence information Variant position:

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

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

HHDEAWAHNSSNYTLPAFYM G NFSIPSGIPDLPQDTFIQFP 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                         HHD-EAWAHNSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQFP

                              RHD-KTFAHRSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQF

Mouse                         HLD-GRSTSNSSDLILPTFYVGNFSIPSGIPDLPQDTFIQF

Bovine                        YHN-KARAHSPPTYALPTFYVGNFTIPSGIADLPQDTFIQF

Cat                           RQDNKAFAHHSSNYTLPAFYAGNFSIPSGIPDLPQDTFIQF

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	29 – 677	Beta-galactosidase
Glycosylation	542 – 542	N-linked (GlcNAc...) asparagine
Glycosylation	545 – 545	N-linked (GlcNAc...) asparagine
Glycosylation	555 – 555	N-linked (GlcNAc...) asparagine
Beta strand	550 – 556

Literature citations
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
Santamaria R.; Blanco M.; Chabas A.; Grinberg D.; Vilageliu L.;
Clin. Genet. 71:273-279(2007)
Cited for: VARIANTS GM1G1 CYS-59; HIS-59; VAL-134; LEU-147 DEL; SER-162; CYS-208; ASP-272; 377-VAL--LYS-381 DEL; TYR-491; LEU-549 AND CYS-590; VARIANT GM1G2 HIS-201; VARIANT GM1G3 ARG-155; VARIANTS GM1-GANGLIOSIDOSIS LEU-434 AND GLU-554;

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.