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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15146: Variant p.Pro344Arg

Muscle, skeletal receptor tyrosine-protein kinase
Gene: MUSK
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Variant information Variant position: help 344 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 Proline (P) to Arginine (R) at position 344 (P344R, p.Pro344Arg). 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 medium size and hydrophobic (P) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 CMS9. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 344 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 869 The length of the canonical sequence.
Location on the sequence: help VCNAVLAKDALVFLNTSYAD P EEAQELLVHTAWNELKVVSP 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                         VCNAVLAKDALVFLNTSYADPEEAQELLVHTAWNELKVVSP

Mouse                         VCDAVLAKDALVFFNTSYRDPEDAQELLIHTAWNELKAVSP

Rat                           VCDAVLVKDSLVFFNTSYPDPEEAQELLIHTAWNELKAVSP

Chicken                       VCSAILSRNALVFFNSSYADPEETQELLVHTAWTELKTVSS
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 24 – 869 Muscle, skeletal receptor tyrosine-protein kinase
Topological domain 24 – 495 Extracellular
Domain 312 – 450 FZ
Glycosylation 338 – 338 N-linked (GlcNAc...) asparagine
Disulfide bond 317 – 382
Disulfide bond 325 – 375
Alternative sequence 307 – 394 Missing. In isoform 2 and isoform 3.



Literature citations
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
Mihaylova V.; Salih M.A.; Mukhtar M.M.; Abuzeid H.A.; El-Sadig S.M.; von der Hagen M.; Huebner A.; Nurnberg G.; Abicht A.; Muller J.S.; Lochmuller H.; Guergueltcheva V.;
Neurology 73:1926-1928(2009)
Cited for: VARIANT CMS9 ARG-344;
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.