UniProtKB/Swiss-Prot P11055: Variant p.Ala1192Thr

• Variant information
• Sequence information
• Literature citations
• All

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.

• Variant rs2285477 [ dbSNP | Ensembl ]

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.

Type	Positions	Description
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;