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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07951: Variant p.Glu117Ala

Tropomyosin beta chain
Gene: TPM2
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Variant information Variant position: help 117
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Alanine (A) at position 117 (E117A, p.Glu117Ala).
Physico-chemical properties: help Change from medium size and acidic (E) to small size and hydrophobic (A)
BLOSUM score: help -1
Variant description: help In CMYO23.


Sequence information Variant position: help 117
Protein sequence length: help 284
Location on the sequence: help EELDRAQERLATALQKLEEA E KAADESERGMKVIENRAMKD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 284 Tropomyosin beta chain
Region 117 – 136 Disordered
Coiled coil 1 – 284
Modified residue 108 – 108 Phosphothreonine



Literature citations
Mutations in the beta-tropomyosin (TPM2) gene -- a rare cause of nemaline myopathy.
Donner K.; Ollikainen M.; Ridanpaeae M.; Christen H.J.; Goebel H.H.; de Visser M.; Pelin K.; Wallgren-Pettersson C.;
Neuromuscul. Disord. 12:151-158(2002)
Cited for: VARIANTS CMYO23 ALA-117 AND PRO-147;
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.