UniProtKB/Swiss-Prot P10253: Variant p.Asp91Asn

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

91 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 Aspartate (D) to Asparagine (N) at position 91 (D91N, p.Asp91Asn). 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 (D) to medium size and polar (N) 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
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:

In allele GAA*2; lower affinity for glycogen and starch but not for lower-molecular weight substrates. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1800299 [ dbSNP | Ensembl ]

Sequence information Variant position:

91 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:

HPGRPRAVPTQCDVPPNSRF D CAPDKAITQEQCEARGCCYI 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                         HPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYI

Mouse                         QTEQPKEAPTQCDVPPSSRFDCAPDKGISQEQCEARGCCYV

Rat                           HAEQLRAVPTQCDVTPNSRFDCAPDKGITQEQCEARGCCWV

Bovine                        CRGSPRAAPTQCDLPPNSRFDCAPDKGITPQQCEARGCCYM

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
Domain	80 – 131	P-type
Disulfide bond	82 – 109

Literature citations
Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower 'affinity' for glycogen (GAA 2) and transient gene expression in deficient cells.
Martiniuk F.; Bodkin M.; Tzall S.; Hirschhorn R.;
Am. J. Hum. Genet. 47:440-445(1990)
Cited for: VARIANT ASN-91; 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; Late form of Pompe disease with glycogen storage in peripheral nerves axons.
Fidzianska A.; Lugowska A.; Tylki-Szymanska A.;
J. Neurol. Sci. 301:59-62(2011)
Cited for: VARIANT GSD2 GLY-103; VARIANT ASN-91; 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.