UniProtKB/Swiss-Prot Q13485: Variant p.Asp493His

Mothers against decapentaplegic homolog 4
Gene: SMAD4
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Variant information Variant position:

493 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 Aspartate (D) to Histidine (H) at position 493 (D493H, p.Asp493His). 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 acidic (D) to medium size and polar (H) 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:

In pancreatic carcinoma. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs121912578 [ dbSNP | Ensembl ]

Sequence information Variant position:

493 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

552 The length of the canonical sequence.
Location on the sequence:

GSVGGIAPAISLSAAAGIGV D DLRRLCILRMSFVKGWGPDY 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                         GSVGGIAPAISLSAAAGIGVDDLRRLCILRMSFVKGWGPDY

Mouse                         GSVGGIAPAISLSAAAGIGVDDLRRLCILRMSFVKGWGPDY

Rat                           GSVGGIAPAISLSAAAGIGVDDLRRLCILRMSFVKGWGPDY

Pig                           GSVGGIAPAISLSAAAGIGVDDLRRLCILRMSFVKGWGPDY

Bovine                        GSVGGIAPAISLSAAAGIGVDDLRRLCILRMSFVKGWGPDY

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	1 – 552	Mothers against decapentaplegic homolog 4
Domain	323 – 552	MH2
Modified residue	507 – 507	N6-acetyllysine
Mutagenesis	496 – 496	R -> S. No effect on heterotrimerization. Partially diminished transcriptional activation.
Mutagenesis	502 – 502	R -> S. No effect on heterotrimerization. Greatly reduced transcriptional activation.
Helix	493 – 497

Literature citations
DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1.
Hahn S.A.; Schutte M.; Shamsul Hoque A.T.M.; Moskaluk C.A.; da Costa L.T.; Rozenblum E.; Weinstein C.L.; Fischer A.; Yeo C.J.; Hruban R.H.; Kern S.E.;
Science 271:350-353(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANT PANCREATIC CARCINOMA HIS-493;

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.