UniProtKB/Swiss-Prot Q13485: Variant p.Asn13Ser

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

13 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 Asparagine (N) to Serine (S) at position 13 (N13S, p.Asn13Ser). 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 (N) to small size and polar (S) 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:

Rare variant; found in a patient with pulmonary hypertension; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs281875323 [ dbSNP | Ensembl ]

Sequence information Variant position:

13 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:

MDNMSITNTPTS N DACLSIVHSLMCHRQGGESE 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                         MDNMSITNTPTSNDACLSIVHSLMCHRQGGESE

Mouse                         MDNMSITNTPTSNDACLSIVHSLMCHRQGGESE

Rat                           MDNMSITNTPTSNDACLSIVHSLMCHRQGGESE

Pig                           MDNMSITNTPTSNDACLSIVHSLMCHRQGGESE

Bovine                        MDNMSITNTPTSNDACLSIVHSLMCHRQGGESE

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
Region	1 – 322	Mediates interaction with ZBTB7A

Literature citations
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.
Nasim M.T.; Ogo T.; Ahmed M.; Randall R.; Chowdhury H.M.; Snape K.M.; Bradshaw T.Y.; Southgate L.; Lee G.J.; Jackson I.; Lord G.M.; Gibbs J.S.; Wilkins M.R.; Ohta-Ogo K.; Nakamura K.; Girerd B.; Coulet F.; Soubrier F.; Humbert M.; Morrell N.W.; Trembath R.C.; Machado R.D.;
Hum. Mutat. 32:1385-1389(2011)
Cited for: POSSIBLE INVOLVEMENT IN PULMONARY HYPERTENSION; VARIANT SER-13; The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-130; ASN-351 AND HIS-361; INVOLVEMENT IN COLORECTAL CANCER;

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.