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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13805: Variant p.Ala242Pro

Troponin T, slow skeletal muscle
Gene: TNNT1
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Variant information Variant position: help 242 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Alanine (A) to Proline (P) at position 242 (A242P, p.Ala242Pro). 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: help Change from small size and hydrophobic (A) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In NEM5B; likely pathogenic; loss-of-function variant unable to rescue the myopathic phenotype in zebrafish morphants. Any additional useful information about the variant.


Sequence information Variant position: help 242 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 278 The length of the canonical sequence.
Location on the sequence: help KAQELSDWIHQLESEKFDLM A KLKQQKYEINVLYNRISHAQ 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KAQELSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQ

Mouse                         KAQELSEWIHQLESEKFDLMEKLKQQKYEINVLYNRISHAQ

Rat                           KAQELSEWIHQLESEKFDLMEKLKQQKYEINVLYNRISHAQ

Pig                           KAQELSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQ

Bovine                        KAQELSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQ
Sequence annotation in neighborhood: help 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 – 278 Troponin T, slow skeletal muscle



Literature citations
TNNT1 myopathy with novel compound heterozygous mutations.
Lee S.; Eum J.; Park S.; Ki S.; Hwang B.J.; Kee Y.; Chae J.H.;
Neuromuscul. Disord. 32:176-184(2022)
Cited for: VARIANT NEM5B PRO-242; INVOLVEMENT IN NEM5B; CHARACTERIZATION OF VARIANT NEM5B PRO-242;
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.