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UniProtKB/Swiss-Prot Q14697 : Variant p.His785Asn
Neutral alpha-glucosidase AB
Gene: GANAB
Variant information
Variant position: 785 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: USThe 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 Histidine (H) to Asparagine (N) at position 785 (H785N, p.His785Asn).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: Similar physico-chemical property. Both residues are medium size and polar.The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 1The 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
Variant description: Found in a patient affected by polycystic liver disease; unknown pathological significance; the patient carried additional PKHD1 variant; the mutation results in significantly reduced alpha-glucosidase activity; dbNP:rs753910059.Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.
Sequence information
Variant position: 785 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:
VQVYLPGQGEVWYDIQSYQK
H HGPQTLYLPVTLSSIPVFQR
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 VQVYLPGQ--GEVWYDIQSYQKH HGPQTLYLPVTLSSIPVFQR
Mouse VQVYLPGQ--EEVWYDIQSYQKH HGPQTLYLPVTLSSIPVF
Pig VQVYLPGQ--GEVWYDVHSYQKY HGPQTLYLPVTLSSIPVF
Slime mold MKVLLPGQSVNEIWYDVDT-EKP INAGVIEIDTPLEKIPVY
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
29 – 944
Neutral alpha-glucosidase AB
Alternative sequence
53 – 944
Missing. In isoform 3.
Literature citations
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
Besse W.; Dong K.; Choi J.; Punia S.; Fedeles S.V.; Choi M.; Gallagher A.R.; Huang E.B.; Gulati A.; Knight J.; Mane S.; Tahvanainen E.; Tahvanainen P.; Sanna-Cherchi S.; Lifton R.P.; Watnick T.; Pei Y.P.; Torres V.E.; Somlo S.;
J. Clin. Invest. 127:1772-1785(2017)
Cited for: VARIANTS ASN-785; TYR-850 AND 918-GLN--ARG-944 DEL; CHARACTERIZATION OF VARIANTS ASN-785 AND TYR-850;
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.