UniProtKB/SwissProt variant VAR

Variant information

Variant position:

13

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 Serine (S) to Phenylalanine (F) at position 13 (S13F, p.Ser13Phe).

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 small size and polar (S) to large size and aromatic (F)

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

Variant description:

In MFM1; some patients manifest a severe cardiac phenotype with right ventricular predominance.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs62636495 [ dbSNP | Ensembl ]

Sequence information

Variant position:

13

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:

MSQAYSSSQRVS S YRRTFGGAPGFPLGSPLSSP

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                         MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSP

Mouse                         MSQAYSSSQRVSSYRRTFGGAPGFSLGSPLSSP

Rat                           MSQAYSSSQRVSSYRRTFGGAPGFSLGSPLSSP

Pig                           MSQAYSSSQRVSSYRRTFGGAPSFPLGSPLSSP

Bovine                        MSQAYSSSQRVSSYRRTFGGAPSFPLGSPLSSP

Chicken                       MSQSYSSSQRVSSYRRTFGGG---------TSP

Xenopus laevis                MSQSYSSNQRASSYRRTFGGG----------SP

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
Initiator methionine	1 – 1	Removed
Chain	2 – 470	Desmin
Region	2 – 108	Head
Modified residue	7 – 7	Phosphoserine; by CDK1
Modified residue	12 – 12	Phosphoserine; by AURKB
Modified residue	16 – 16	Omega-N-methylarginine
Modified residue	17 – 17	Phosphothreonine; by AURKB and ROCK1
Modified residue	28 – 28	Phosphoserine; by CDK1
Modified residue	31 – 31	Phosphoserine
Modified residue	32 – 32	Phosphoserine; by CDK1

Literature citations

Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
Pica E.C.; Kathirvel P.; Pramono Z.A.; Lai P.S.; Yee W.C.;
Neuromuscul. Disord. 18:178-182(2008)
Cited for: VARIANT MFM1 PHE-13;

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
van Tintelen J.P.; Van Gelder I.C.; Asimaki A.; Suurmeijer A.J.; Wiesfeld A.C.; Jongbloed J.D.; van den Wijngaard A.; Kuks J.B.; van Spaendonck-Zwarts K.Y.; Notermans N.; Boven L.; van den Heuvel F.; Veenstra-Knol H.E.; Saffitz J.E.; Hofstra R.M.; van den Berg M.P.;
Heart Rhythm 6:1574-1583(2009)
Cited for: VARIANT MFM1 PHE-13; PHENOTYPIC VARIABILITY IN MFM1 PATIENTS;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17661: Variant p.Ser13Phe