UniProtKB/Swiss-Prot Q14697: Variant p.His850Tyr

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

850 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 Histidine (H) to Tyrosine (Y) at position 850 (H850Y, p.His850Tyr). 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 (H) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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
Other resources:

Links to websites of interest for the variant.

Variant rs114915323 [ dbSNP | Ensembl ]

Sequence information Variant position:

850 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:

LFVALSPQGTAQGELFLDDG H TFNYQTRQEFLLRRFSFSGN 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                         LFVALSPQGTAQGELFLDDGHTFNYQTRQEFLLRRFSFSGN

Mouse                         LFVALSPQGTAQGELFLDDGHTFNYQTRHEFLLRRFSFSGS

Pig                           LFVALSPQGTAQGELFLDDGHTFNYQTGHEFLLRRFSFSGN

Slime mold                    IRIALDSSKSAQGQLYIDDEHSFDYKKG-KFLYRQFTFKDN

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.
Beta strand	849 – 852

Literature citations
Sequence and analysis of the endoplasmic reticulum protein glucosidase II.
Stuerzenhofecker B.; Nguyenvan P.; Soeling H.D.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT TYR-850; Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1.
Nagase T.; Miyajima N.; Tanaka A.; Sazuka T.; Seki N.; Sato S.; Tabata S.; Ishikawa K.; Kawarabayasi Y.; Kotani H.; Nomura N.;
DNA Res. 2:37-43(1995)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-944 (ISOFORM 1); VARIANT TYR-850; 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.