UniProtKB/Swiss-Prot P17661: Variant p.Ala213Val

Desmin
Gene: DES
Feedback?

Variant information Variant position:

213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Alanine (A) to Valine (V) at position 213 (A213V, p.Ala213Val). 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 hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

May play a role in cardiomyopathies and distal myopathies if combined with other DES mutations or mutations in other genes; does not affect the formation of a normal complete filamentous network. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs41272699 [ dbSNP | Ensembl ]

Sequence information Variant position:

213 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:

KLQEEIQLKEEAENNLAAFR A DVDAATLARIDLERRIESLN 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                         KLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLN

                              KLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLN

Mouse                         KLQEEIQLREEAENNLAAFRADVDAATLARIDLERRIESLN

Rat                           KLQEEIQLREEAENNLAAFRADVDAATLARIDLERRIESLN

Pig                           KLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLN

Bovine                        KLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLN

Chicken                       RLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLQ

Xenopus laevis                RLQEEIQLKEDAENNLAAFRGDVDAATLARIDLERRIESLQ

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	152 – 252	Coil 1B

Literature citations
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.
Kaminska A.; Strelkov S.V.; Goudeau B.; Olive M.; Dagvadorj A.; Fidzianska A.; Simon-Casteras M.; Shatunov A.; Dalakas M.C.; Ferrer I.; Kwiecinski H.; Vicart P.; Goldfarb L.G.;
Hum. Genet. 114:306-313(2004)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS MFM1 ASP-342; PRO-357; 359-GLU--SER-361 DEL; ASN-366 DEL AND PRO-370; VARIANT VAL-213; Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
Goudeau B.; Rodrigues-Lima F.; Fischer D.; Casteras-Simon M.; Sambuughin N.; de Visser M.; Laforet P.; Ferrer X.; Chapon F.; Sjoberg G.; Kostareva A.; Sejersen T.; Dalakas M.C.; Goldfarb L.G.; Vicart P.;
Hum. Mutat. 27:906-913(2006)
Cited for: VARIANTS MFM1 ARG-338; TYR-399 AND LYS-401; VARIANT VAL-213; CHARACTERIZATION OF VARIANTS MFM1 ARG-338; PRO-360; ILE-393; TYR-399 AND LYS-401; CHARACTERIZATION OF VARIANT VAL-213; Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins.
Kostareva A.; Sjoberg G.; Gudkova A.; Smolina N.; Semernin E.; Shlyakhto E.; Sejersen T.;
Acta Myol. 30:42-45(2011)
Cited for: VARIANT VAL-213; Desmin mutations and arrhythmogenic right ventricular cardiomyopathy.
Lorenzon A.; Beffagna G.; Bauce B.; De Bortoli M.; Li Mura I.E.; Calore M.; Dazzo E.; Basso C.; Nava A.; Thiene G.; Rampazzo A.;
Am. J. Cardiol. 111:400-405(2013)
Cited for: VARIANTS VAL-213 AND GLU-241;

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.