UniProtKB/Swiss-Prot P17661: Variant p.His326Arg

Desmin
Gene: DES
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Variant information Variant position:

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

US 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 Histidine (H) to Arginine (R) at position 326 (H326R, p.His326Arg). 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 (H) to large size and basic (R) 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:

In CMD1I; uncertain significance; does not affect filaments formation. Any additional useful information about the variant.

Sequence information Variant position:

326 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:

AANKNNDALRQAKQEMMEYR H QIQSYTCEIDALKGTNDSLM 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                         AANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLM

                              AANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLM

Mouse                         AANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLM

Rat                           AANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLM

Pig                           AANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLM

Bovine                        AANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLM

Chicken                       AANKNNDALRQAKQEMLEYRHQIQSYTCEIDALKGTNDSLM

Xenopus laevis                AAKKNNDAMRQSKQEMMEYRHQIQSYTCEIDALKGTNDSLM

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
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.
Brodehl A.; Dieding M.; Klauke B.; Dec E.; Madaan S.; Huang T.; Gargus J.; Fatima A.; Saric T.; Cakar H.; Walhorn V.; Toensing K.; Skrzipczyk T.; Cebulla R.; Gerdes D.; Schulz U.; Gummert J.; Svendsen J.H.; Olesen M.S.; Anselmetti D.; Christensen A.H.; Kimonis V.; Milting H.;
Circ. Cardiovasc. Genet. 6:615-623(2013)
Cited for: VARIANTS CMD1I ASP-120 AND ARG-326; CHARACTERIZATION OF VARIANTS CMD1I ASP-120 AND ARG-326; FUNCTION; SUBCELLULAR LOCATION; MUTAGENESIS OF ALA-120;

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.