UniProtKB/SwissProt variant VAR

Variant information

Variant position:

2366

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 Lysine (K) to Glutamine (Q) at position 2366 (K2366Q, p.Lys2366Gln).

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 (K) to medium size and polar (Q)

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

Other resources:

Links to websites of interest for the variant.

Variant rs1800275 [ dbSNP | Ensembl ]

Sequence information

Variant position:

2366

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

3685

The length of the canonical sequence.

Location on the sequence:

PIRNQLEIYNQPNQEGPFDV K ETEIAVQAKQPDVEEILSKG

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                         PIRNQLEIYNQPNQEGPFDVKETEIAVQ-AKQPDVEEILSKG

                              PIRNQLEIYNQPNQTGPFDIKEIEVAVQ-AKQPDVEGILSK

Mouse                         PIRNQLEIYNQPSQAGPFDIKEIEVTVH-GKQADVERLLSK

Rat                           PIRNQLEIYNQPSQPGPFDLKETEVTVQ-AKQPDVERLLSK

Pig                           PIKNQLEIYNQPNQTGPFDIKETEVAVQ-AKQLDVEGILSK

Chicken                       PVKNQLELYNQVGQPGAFDIKETEAAVQ-AKQPNVEEVLSK

Caenorhabditis elegans        PSRENVEGVLRDVQRLKMSIGDVKKRVQTANLPPAIKLAGK

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	1 – 3685	Dystrophin
Repeat	2319 – 2423	Spectrin 19
Alternative sequence	1 – 3068	Missing. In isoform 12, isoform 13, isoform 14, isoform 15, isoform 16 and isoform 17.
Alternative sequence	1 – 2729	Missing. In isoform 11.
Alternative sequence	1 – 2460	Missing. In isoform 6, isoform 7, isoform 8, isoform 9 and isoform 10.

Literature citations

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.
Koenig M.; Monaco A.P.; Kunkel L.M.;
Cell 53:219-228(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS GLY-882; LEU-1469 AND GLN-2366;

Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy.
Feng J.; Yan J.; Buzin C.H.; Towbin J.A.; Sommer S.S.;
Mol. Genet. Metab. 77:119-126(2002)
Cited for: VARIANTS CMD3B ASN-18 AND LEU-3228; VARIANTS TRP-2155; THR-2299; GLN-2366; VAL-2910; ASP-2912 AND ARG-2937;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P11532: Variant p.Lys2366Gln