Sequence information
Variant position: 119 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 357 The length of the canonical sequence.
Location on the sequence:
VPLIKQFPVTCETGPGSPSG
H AMGTAGVYYVMVTSTLSIFQ
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 VPLIKQFPVTCETGPGSPSGH AMGTAGVYYVMVTSTLSIFQ
Mouse VPIIKQFPVTCETGPGSPSGH AMGAAGVYYVMVTSTLAIFR
Rat VPLIKQFPVTCETGPGSPSGH AMGTAGVYYVMVTSTLAIFR
Bovine APLIKQFPVTCETGPGSPSGH AMGTAGVYYVMVTSTLSIFR
Cat VPLIKQFPVTCETGPGSPSGH AMGTAGVYYVMVTSTLSMFR
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
1 – 357
Glucose-6-phosphatase catalytic subunit 1
Transmembrane
118 – 138
Helical
Active site
119 – 119
Proton donor
Alternative sequence
115 – 175
SPSGHAMGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFWAVQLNVCLSRIYLAA -> KDKADLQISVLECHFVVGILGCAAECLSVTNLPCCSFSSSSCCWSPVRHCCCRNFQPHPQH. In isoform 2.
Mutagenesis
119 – 119
H -> A. Loss of glucose-6-phosphatase activity.
Literature citations
A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (von Gierke disease).
Wu M.-C.; Tsai F.-J.; Lee C.-C.; Tsai C.-H.; Wu J.-Y.;
Hum. Mutat. 16:447-447(2000)
Cited for: VARIANT GSD1A LEU-119;
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.