UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1379

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 Threonine (T) at position 1379 (A1379T, p.Ala1379Thr).

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 polar (T)

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 CMH1.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs397516202 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1379

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

Protein sequence length:

1935

The length of the canonical sequence.

Location on the sequence:

RVLSKANSEVAQWRTKYETD A IQRTEELEEAKKKLAQRLQE

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                         RVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQE

                              RVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQD

Mouse                         RVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQD

Rat                           RVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQD

Pig                           RVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQD

Bovine                        RVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQD

Horse                         RVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQD

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 – 1935	Myosin-7
Coiled coil	839 – 1935
Helix	1361 – 1425

Literature citations

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
Blair E.; Redwood C.; de Jesus Oliveira M.; Moolman-Smook J.C.; Brink P.; Corfield V.A.; Oestman-Smith I.; Watkins H.;
Circ. Res. 90:263-269(2002)
Cited for: VARIANTS CMH1 THR-1379 AND GLY-1776; VARIANT CYS-1491;

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
Richard P.; Charron P.; Carrier L.; Ledeuil C.; Cheav T.; Pichereau C.; Benaiche A.; Isnard R.; Dubourg O.; Burban M.; Gueffet J.-P.; Millaire A.; Desnos M.; Schwartz K.; Hainque B.; Komajda M.;
Circulation 107:2227-2232(2003)
Cited for: VARIANTS CMH1 MET-39; ASN-188; HIS-204; SER-232; GLN-249; THR-263; THR-355; LEU-403; GLN-403; TRP-403; VAL-428; THR-443; CYS-453; SER-479; LYS-483; MET-606; ILE-659; SER-663; HIS-663; CYS-671; ARG-716; GLN-719; TRP-719; CYS-723; GLU-733; ARG-741; ARG-768; GLU-778; HIS-787; THR-852; GLY-869; GLU-883 DEL; GLU-930 DEL; ARG-1135; GLN-1218; MET-1377; THR-1379; TRP-1382; MET-1692 AND THR-1777;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12883: Variant p.Ala1379Thr