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:
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 HPGRPRAVPTQCDVPPNSRF DCAPDKAITQEQCEARGCCYI
Mouse QTEQPKEAPTQCDVPPSSRF DCAPDKGISQEQCEARGCCYV
Rat HAEQLRAVPTQCDVTPNSRF DCAPDKGITQEQCEARGCCWV
Bovine CRGSPRAAPTQCDLPPNSRF DCAPDKGITPQQCEARGCCYM
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.
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.;
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;
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