UniProtKB/Swiss-Prot Q14697: Variant p.Gln95Arg

Neutral alpha-glucosidase AB
Gene: GANAB
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Variant information Variant position:

95 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The 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 Glutamine (Q) to Arginine (R) at position 95 (Q95R, p.Gln95Arg). 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:

Change from medium size and polar (Q) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 The 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:

No effect on PKD1 and PKD2 localization to the cell surface. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1392032530 [ dbSNP | Ensembl ]

Sequence information Variant position:

95 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:

TVHLIHEVTKVLLVLELQGL Q KNMTRFRIDELEPRRPRYRV 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                         TVHL-IHEVTKV--LLVLELQGLQKNMTRFRIDELEP--RRPRYRV

Mouse                         TVHL-IHEVTKV--LLVLELQGLQKNMTRIRIDELEP--RR

Pig                           TIHL-INEVTKV--LLVLELQGLQKNMTRIRIDELEP--RR

Slime mold                    TIYFDLQEQNQKSNLLTMKLEIYEGGIVRMRAQEKEPLLNK

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
Glycosylation	97 – 97	N-linked (GlcNAc...) asparagine
Alternative sequence	53 – 944	Missing. In isoform 3.
Turn	95 – 97

Literature citations
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;

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.