UniProtKB/SwissProt variant VAR

Variant information

Variant position:

116

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

Type of variant:

LP/P [Disclaimer]

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 116 (N116S, p.Asn116Ser).

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:

In MFM1; the clinical picture is dominated by arrhythmogenic right ventricular cardiomyopathy and terminal heart failure; results in impaired filaments formation.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs267607499 [ dbSNP | Ensembl ]

Sequence information

Variant position:

116

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

Protein sequence length:

470

The length of the canonical sequence.

Location on the sequence:

AVNQEFLTTRTNEKVELQEL N DRFANYIEKVRFLEQQNAAL

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                         AVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAAL

Mouse                         AVNQEFLATRTNEKVELQELNDRFANYIEKVRFLEQQNAAL

Rat                           AVNQEFLATRTNEKVELQELNDRFANYFEKVRFLEQQNAAL

Pig                           AVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAAL

Bovine                        AVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAAL

Chicken                       AMNQEFLQTRTNEKVELQELNDRFANYIEKVRFLEQQNALM

Xenopus laevis                AMNQEFLQTRTNEKVELQDLNDRFANYIEKVRYLEQQNQIL

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	2 – 470	Desmin
Domain	108 – 416	IF rod
Region	109 – 141	Coil 1A
Mutagenesis	120 – 120	A -> ER. Results in impaired filaments formation.
Mutagenesis	120 – 120	A -> KLV. Does not result in impaired filaments formation.

Literature citations

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
Klauke B.; Kossmann S.; Gaertner A.; Brand K.; Stork I.; Brodehl A.; Dieding M.; Walhorn V.; Anselmetti D.; Gerdes D.; Bohms B.; Schulz U.; Zu Knyphausen E.; Vorgerd M.; Gummert J.; Milting H.;
Hum. Mol. Genet. 19:4595-4607(2010)
Cited for: VARIANT MFM1 SER-116; CHARACTERIZATION OF VARIANT MFM1 SER-116;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17661: Variant p.Asn116Ser