UniProtKB/SwissProt variant VAR

Variant information

Variant position:

337

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 Alanine (A) to Proline (P) at position 337 (A337P, p.Ala337Pro).

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 (P)

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; mild adult-onset; unable to form a functional filamentous network.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs59962885 [ dbSNP | Ensembl ]

Sequence information

Variant position:

337

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:

AKQEMMEYRHQIQSYTCEID A LKGTNDSLMRQMRELEDRFA

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                         AKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFA

Mouse                         AKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFA

Rat                           AKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFA

Pig                           AKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFA

Bovine                        AKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFA

Chicken                       AKQEMLEYRHQIQSYTCEIDALKGTNDSLMRQMREMEERFA

Xenopus laevis                SKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRDLEEKFS

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

Literature citations

Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
Goldfarb L.G.; Park K.-Y.; Cervenakova L.; Gorokhova S.; Lee H.-S.; Vasconcelos O.; Nagle J.W.; Semino-Mora C.; Sivakumar K.; Dalakas M.C.;
Nat. Genet. 19:402-403(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS MFM1 PRO-337; PRO-360 AND ILE-393;

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17661: Variant p.Ala337Pro