Variant position: 91 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 285 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KLELAEKKAADAEAEVASLN RRIQLVEEELDRAQERLATAL
Mouse KLELAEKKAADAEAEVASLN RRIQLVEEELDRAQERLATAL
Rat -----RRAREQAEAEVASLN RRIQLVEEELDRAQERLATAL
Pig KLELAEKKAADAEAEVASLN RRIQLVEEELDRAQERLATAL
Bovine KLELAEKKAADAEAEVASLN RRIQLVEEELDRAQERLATAL
Caenorhabditis elegans -----RKKREDAEAEVAALN RRIVLVEEDLERTEDRLKTAT
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
2 – 285 Tropomyosin alpha-3 chain
1 – 285
88 – 88 Phosphoserine
109 – 109 Phosphothreonine
1 – 127 Missing. In isoform 7.
44 – 110
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M.; Lehtokari V.L.; Marston S.; Nyman T.A.; Barnerias C.; Beggs A.H.; Bertini E.; Ceyhan-Birsoy O.; Cintas P.; Gerard M.; Gilbert-Dussardier B.; Hogue J.S.; Longman C.; Eymard B.; Frydman M.; Kang P.B.; Klinge L.; Kolski H.; Lochmueller H.; Magy L.; Manel V.; Mayer M.; Mercuri E.; North K.N.; Peudenier-Robert S.; Pihko H.; Probst F.J.; Reisin R.; Stewart W.; Taratuto A.L.; de Visser M.; Wilichowski E.; Winer J.; Nowak K.; Laing N.G.; Winder T.L.; Monnier N.; Clarke N.F.; Pelin K.; Groenholm M.; Wallgren-Pettersson C.;
Hum. Mutat. 35:779-790(2014)
Cited for: VARIANTS NEM1 PHE-88 AND CYS-168; VARIANTS CAPM1 PHE-88; ALA-151; CYS-168 AND ILE-245; VARIANTS CFTD VAL-100; CYS-168 AND HIS-168; VARIANTS CYS-91 AND LYS-253;
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.