UniProtKB/SwissProt variant VAR

Variant information

Variant position:

785

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

US

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 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:

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:

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.

Variant rs753910059 [ dbSNP | Ensembl ]

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--GEVWYDIQSYQKHHGPQTLYLPVTLSSIPVFQR

Mouse                         VQVYLPGQ--EEVWYDIQSYQKHHGPQTLYLPVTLSSIPVF

Pig                           VQVYLPGQ--GEVWYDVHSYQKYHGPQTLYLPVTLSSIPVF

Slime mold                    MKVLLPGQSVNEIWYDVDT-EKPINAGVIEIDTPLEKIPVY

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14697: Variant p.His785Asn