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UniProtKB/Swiss-Prot P12883: Variant p.Ser1776Thr

Myosin-7
Gene: MYH7
Variant information

Variant position:  1776
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Threonine (T) at position 1776 (S1776T, p.Ser1776Thr).
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 polar (S) to medium size and polar (T)
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

Involvement in disease:  Left ventricular non-compaction 5 (LVNC5) [MIM:613426]: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC5 is an autosomal dominant condition. {ECO:0000269|PubMed:18506004}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In LVNC5.
Any additional useful information about the variant.



Sequence information

Variant position:  1776
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:   KKAITDAAMMAEELKKEQDT  S AHLERMKKNMEQTIKDLQHR
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                         KKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHR

                              KKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHR

Mouse                         KKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHR

Rat                           KKAITDAAMMAEELKKEQDTSAHLERMKNNMEQTIKDLQHR

Pig                           KKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHR

Bovine                        KKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHR

Horse                         KKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHR

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.

TypePositionsDescription
Chain 1 – 1935 Myosin-7
Coiled coil 839 – 1935


Literature citations

Mutations in sarcomere protein genes in left ventricular noncompaction.
Klaassen S.; Probst S.; Oechslin E.; Gerull B.; Krings G.; Schuler P.; Greutmann M.; Huerlimann D.; Yegitbasi M.; Pons L.; Gramlich M.; Drenckhahn J.D.; Heuser A.; Berger F.; Jenni R.; Thierfelder L.;
Circulation 117:2893-2901(2008)
Cited for: INVOLVEMENT IN LVNC5; VARIANTS LVNC5 ASP-239 DEL; HIS-243; LEU-252; CYS-1359 AND THR-1776;

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.