Variant position: 9 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 MMEAIKKK MQMLKLDKENALDRAEQAEAE
Mouse MMEAIKKK MQMLKLDKENVLDRAEQAEAE
Rat TIEAVKRK IQVLQ----------QQADDA
Pig -MEAIKKK MQMLKLDKENALDRAEQAEAE
Bovine -MEAIKKK MQMLKLDKENALDRAEQAEAE
Caenorhabditis elegans LLDVLKKK MRQAR----------EEAEAA
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
1 – 1 Removed
2 – 285 Tropomyosin alpha-3 chain
1 – 285
2 – 2 N-acetylmethionine
1 – 127 Missing. In isoform 7.
1 – 81 MMEAIKKKMQMLKLDKENALDRAEQAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAAD -> MAGITTIEAVKRKIQVLQQQADDAEERAERLQREVEGERRAREQ. In isoform 2, isoform 3 and isoform 6.
5 – 21 IKKKMQMLKLDKENALD -> VKRKIQVLQQQADDAEE. In isoform 4 and isoform 5.
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.
Laing N.G.; Wilton S.D.; Akkari P.A.; Dorosz S.; Boundy K.; Kneebone C.; Blumbergs P.; White S.; Watkins H.; Love D.R.; Haan E.;
Nat. Genet. 9:75-79(1995)
Cited for: VARIANT NEM1 ARG-9;
A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.
Michele D.E.; Albayya F.P.; Metzger J.M.;
J. Clin. Invest. 104:1575-1581(1999)
Cited for: CHARACTERIZATION OF VARIANT NEM1 ARG-9;
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.