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UniProtKB/Swiss-Prot P11055: Variant p.Ala1192Thr

Myosin-3
Gene: MYH3
Variant information

Variant position:  1192
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 Alanine (A) to Threonine (T) at position 1192 (A1192T, p.Ala1192Thr).
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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1192
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1940
The length of the canonical sequence.

Location on the sequence:   FLKLRRDLEEATLQHEAMVA  A LRKKHADSVAELGEQIDNLQ
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.

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 – 1940 Myosin-3
Coiled coil 840 – 1933


Literature citations

Nucleotide sequence of full length human embryonic myosin heavy chain cDNA.
Eller M.S.; Stedman H.H.; Sylvester J.E.; Fertels S.H.; Rubinstein N.A.; Kelly A.M.; Sarkar S.;
Nucleic Acids Res. 17:3591-3592(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT THR-1192;

Human embryonic myosin heavy chain cDNA. Interspecies sequence conservation of the myosin rod, chromosomal locus and isoform specific transcription of the gene.
Eller M.S.; Stedman H.H.; Sylvester J.E.; Fertels S.H.; Wu Q.-L.; Raychowdhury M.K.; Rubinstein N.A.; Kelly A.M.; Sarkar S.;
FEBS Lett. 256:21-28(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 774-1940; VARIANT THR-1192;

Identification of three developmentally controlled isoforms of human myosin heavy chains.
Bober E.; Buchberger-Seidl A.; Braun T.; Singh S.; Goedde H.W.; Arnold H.H.;
Eur. J. Biochem. 189:55-65(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 856-1940; VARIANT THR-1192;

Expression and DNA sequence analysis of a human embryonic skeletal muscle myosin heavy chain gene.
Karsch-Mizrachi I.; Travis M.; Blau H.; Leinwand L.A.;
Nucleic Acids Res. 17:6167-6179(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 856-1940; VARIANT THR-1192;

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.