UniProtKB/Swiss-Prot P10253: Variant p.Arg223His

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

223 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 Arginine (R) to Histidine (H) at position 223 (R223H, p.Arg223His). 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 large size and basic (R) to medium size and polar (H) 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.
Other resources:

Links to websites of interest for the variant.

Variant rs1042395 [ dbSNP | Ensembl ]

Sequence information Variant position:

223 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:

RAPSPLYSVEFSEEPFGVIV R RQLDGRVLLNTTVAPLFFAD 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                         RAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFAD

Mouse                         QAPSPLYSVEFSEEPFGVIVRRKLGGRVLLNTTVAPLFFAD

Rat                           QAPSPLYSVEFSEEPFGVIVRRKLGGRVLLNTTVAPLFFAD

Bovine                        QAPFTLYSVEFSEEPFGVVVRRKLDGRVLLNTTVAPLFFAD

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
Glycosylation	233 – 233	N-linked (GlcNAc...) asparagine
Beta strand	219 – 224

Literature citations
Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.
Hoefsloot L.H.; Hoogeveen-Westerveld M.; Kroos M.A.; van Beeumen J.; Reuser A.J.J.; Oostra B.A.;
EMBO J. 7:1697-1704(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PROTEIN SEQUENCE OF 70-89; 123-145; 204-215; 230-249; 332-345; 349-370; 394-409; 480-513; 520-545; 703-719; 726-731 AND 795-803; VARIANTS ARG-199; HIS-223 AND ILE-780; Identification of a novel mutation in the acid alpha glucosidase gene causing juvenile form of Pompe disease in Iranian population.
Ghaffari S.R.; Sabokbar T.; Tahmasebi S.; Dastan J.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GSD2 LEU-457; VARIANTS ARG-199; HIS-223 AND ILE-780; Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
Boerkoel C.F.; Exelbert R.; Nicastri C.; Nichols R.C.; Miller F.W.; Plotz P.H.; Raben N.;
Am. J. Hum. Genet. 56:887-897(1995)
Cited for: VARIANTS GSD2 ARG-299 AND LYS-903 DEL; VARIANTS ARG-199; HIS-223 AND ILE-780; FUNCTION; CATALYTIC ACTIVITY; Glycogen storage disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
Hermans M.M.P.; Kroos M.A.; Smeitink J.A.M.; van der Ploeg A.T.; Kleijer W.J.; Reuser A.J.J.;
Hum. Mutat. 11:209-215(1998)
Cited for: VARIANTS GSD2 PRO-566; ARG-643 AND ARG-768; VARIANTS ASN-91; ARG-199 AND HIS-223; 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.