Variant position: 232 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 944 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 EETQGKAEKDEPGAWEETFK THSDSKPYGPMSVGLDFSLPG
Mouse EETQEKAEKDEPGAWEETFK THSDSKPYGPTSVGLDFSLPG
Pig EEIQGKAEKDEPGAWEETFK THSDSKPYGPTSVGLDFSLPG
Slime mold NNEEQQVSTE--GYWEERFG SHQDSKPNGPMSIGMDFTFVG
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
29 – 944 Neutral alpha-glucosidase AB
181 – 238 Disordered
196 – 234 Basic and acidic residues
53 – 944 Missing. In isoform 3.
Mutations in GANAB, encoding the glucosidase IIalpha subunit, cause autosomal-dominant polycystic kidney and liver disease.
Porath B.; Gainullin V.G.; Cornec-Le Gall E.; Dillinger E.K.; Heyer C.M.; Hopp K.; Edwards M.E.; Madsen C.D.; Mauritz S.R.; Banks C.J.; Baheti S.; Reddy B.; Herrero J.I.; Banales J.M.; Hogan M.C.; Tasic V.; Watnick T.J.; Chapman A.B.; Vigneau C.; Lavainne F.; Audrezet M.P.; Ferec C.; Le Meur Y.; Torres V.E.; Harris P.C.;
Am. J. Hum. Genet. 98:1193-1207(2016)
Cited for: INVOLVEMENT IN PKD3; VARIANTS PKD3 ARG-383 AND LEU-400; VARIANT TRP-817; ALTERNATIVE SPLICING (ISOFORMS 1 AND 2); TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANTS PKD3 ARG-383 AND LEU-400; CHARACTERIZATION OF VARIANTS ARG-95; ALA-232; CYS-309 AND TRP-817; FUNCTION;
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.