Variant position: 524 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 702 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 SVLTPFTPVIDRGIQLHKMI RLITHGLGGEGYLNFMGNEFG
Mouse SVLAPFTPVIDRGIQLHKMI RLITHGLGGEGYLNFMGNEFG
Cat SVLTPFTPVIDRGIQLHKMI RLITHALGGEGYLNFMGNEFG
Horse SVLTPFTPVIDRGIQLHKMI RLITHALGGEGYLNFMGNEFG
Slime mold SVTTEETPIIDRGMSLHKMI RLITSSLGGDGYLNFMGNEFG
Baker's yeast TVLKEPSIVIDRGIALHKMI RLITHSLGGEAYLNFEGNEFG
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
2 – 702 1,4-alpha-glucan-branching enzyme
511 – 530
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.
Bruno C.; DiRocco M.; Lamba L.D.; Bado M.; Marino C.; Tsujino S.; Shanske S.; Stella G.; Minetti C.; van Diggelen O.P.; DiMauro S.;
Neuromuscul. Disord. 9:403-407(1999)
Cited for: VARIANT GSD4 GLN-524;
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.
Ziemssen F.; Sindern E.; Schroder J.M.; Shin Y.S.; Zange J.; Kilimann M.W.; Malin J.P.; Vorgerd M.;
Ann. Neurol. 47:536-540(2000)
Cited for: VARIANTS APBN HIS-515 AND GLN-524;
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
Bruno C.; van Diggelen O.P.; Cassandrini D.; Gimpelev M.; Giuffre B.; Donati M.A.; Introvini P.; Alegria A.; Assereto S.; Morandi L.; Mora M.; Tonoli E.; Mascelli S.; Traverso M.; Pasquini E.; Bado M.; Vilarinho L.; van Noort G.; Mosca F.; DiMauro S.; Zara F.; Minetti C.;
Cited for: INVOLVEMENT IN NEUROMUSCULAR PERINATAL GSD4; VARIANTS GSD4 GLN-524; ARG-545 AND ARG-628;
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