UniProtKB/Swiss-Prot P10253: Variant p.Gly576Ser

Lysosomal alpha-glucosidase
Gene: GAA
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Variant information Variant position:

576 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 Glycine (G) to Serine (S) at position 576 (G576S, p.Gly576Ser). 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 small size and polar (S) 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:

There are three common alleles of GAA: GAA*1, GAA*2 and GAA*4. The sequence shown is that of allele GAA*1, which is the most common. Alleles GAA*2 and GAA*4 are much rarer. Additional information on the polymorphism described.
Variant description:

Retains about half of the activity compared with the wild-type. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1800307 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TICASSHQFLSTHYNLHNLY G LTEAIASHRALVKARGTRPF 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                         TICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPF

Mouse                         TICASSHQFLSTHYNLHNLYGLTEAIASSRALVKTRGTRPF

Rat                           TICASSHQFLSTHYNLHNLYGLTEAIASSRALVKTRGTRPF

Bovine                        TICASSHQFLSTHYDLHNLYGLTEALASHRALVKARGMRPF

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	70 – 952	Lysosomal alpha-glucosidase
Chain	123 – 952	76 kDa lysosomal alpha-glucosidase
Chain	204 – 952	70 kDa lysosomal alpha-glucosidase
Helix	575 – 591

Literature citations
New GAA mutations in Japanese patients with GSDII (Pompe disease).
Pipo J.R.; Feng J.-H.; Yamamoto T.; Ohsaki Y.; Nanba E.; Tsujino S.; Sakuragawa N.; Martiniuk F.; Ninomiya H.; Oka A.; Ohno K.;
Pediatr. Neurol. 29:284-287(2003)
Cited for: VARIANTS GSD2 TRP-224; CYS-600; ARG-619 AND HIS-660; CHARACTERIZATION OF VARIANTS GSD2 TRP-224; ARG-619 AND HIS-660; CHARACTERIZATION OF VARIANT SER-576; Novel GAA mutations in patients with Pompe disease.
Turaca L.T.; de Faria D.O.; Kyosen S.O.; Teixeira V.D.; Motta F.L.; Pessoa J.G.; Rodrigues E Silva M.; de Almeida S.S.; D'Almeida V.; Munoz Rojas M.V.; Martins A.M.; Pesquero J.B.;
Gene 561:124-131(2015)
Cited for: VARIANTS GSD2 VAL-391; HIS-437; PRO-552; ASP-611; VAL-641; TRP-647 AND PRO-705; VARIANTS ASN-91; ARG-199; HIS-223; SER-576; LYS-689; ILE-780 AND ILE-816;

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.