UniProtKB/SwissProt variant VAR

Variant information

Variant position:

406

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 Arginine (R) to Tryptophan (W) at position 406 (R406W, p.Arg406Trp).

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 large size and basic (R) to large size and aromatic (W)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-3

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; unable to form a filamentous network.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121913003 [ dbSNP | Ensembl ]

Sequence information

Variant position:

406

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:

REYQDLLNVKMALDVEIATY R KLLEGEESRINLPIQTYSAL

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                         REYQDLLNVKMALDVEIATYRKLLEGEESRINLPI-QTY-SAL

Mouse                         REYQDLLNVKMALDVEIATYRKLLEGEESRINLPI-QTF-S

Rat                           REYQDLLNVKMALDVEIATYRKLLEGEESRINLPI-QTF-S

Pig                           REYQDLLNVKMALDVEIATYRKLLEGEESRINLPI-QTF-S

Bovine                        REYQDLLNVKMALDVEIATYRKLLEGEESRINLPI-QTF-S

Chicken                       REYQDLLNVKMALDVEIATYRKLLEGEENRISIPMHQTFAS

Xenopus laevis                REYQDLLNVKMALDMEIATYRKLLEGEESRITLPI-QTF-S

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	268 – 415	Interaction with NEB
Region	296 – 412	Coil 2B
Modified residue	424 – 424	Phosphoserine

Literature citations

Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
Park K.-Y.; Dalakas M.C.; Semino-Mora C.; Lee H.-S.; Litvak S.; Takeda K.; Ferrans V.J.; Goldfarb L.G.;
Clin. Genet. 57:423-429(2000)
Cited for: VARIANT MFM1 TRP-406;

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
Dalakas M.C.; Park K.-Y.; Semino-Mora C.; Lee H.S.; Sivakumar K.; Goldfarb L.G.;
N. Engl. J. Med. 342:770-780(2000)
Cited for: VARIANTS MFM1 PRO-337; ASP-342; PRO-360; ILE-393; TRP-406 AND MET-451; CHARACTERIZATION OF VARIANTS MFM1 PRO-337; ASP-342; PRO-360; ILE-393; TRP-406 AND MET-451;

Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
Arbustini E.; Pasotti M.; Pilotto A.; Pellegrini C.; Grasso M.; Previtali S.; Repetto A.; Bellini O.; Azan G.; Scaffino M.; Campana C.; Piccolo G.; Vigano M.; Tavazzi L.;
Eur. J. Heart Fail. 8:477-483(2006)
Cited for: VARIANTS MFM1 CYS-16; TRP-406 AND ILE-453;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17661: Variant p.Arg406Trp