Variant position: 241 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 KYEEEIKILTDKLKEAETRA EFAERSVAKLEKTIDDLEDEL
Mouse KYEEEIKILTDKLKEAETRA EFAERSVAKLEKTIDDLEDEL
Rat KYEEEIKILTDKLKEAETRA EFAERSVAKLEKTIDDLEDKL
Pig KYEEEIKILTDKLKEAETRA EFAERSVAKLEKTIDDLEDEL
Bovine KYEEEIKILTDKLKEAETRA EFAERSVAKLEKTIDDLEDEL
Caenorhabditis elegans SYEEQIRTVSSRLKEAETRA EFAERSVQKLQKEVDRLEDEL
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
253 – 253 Phosphothreonine
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
Lawlor M.W.; Dechene E.T.; Roumm E.; Geggel A.S.; Moghadaszadeh B.; Beggs A.H.;
Hum. Mutat. 31:176-183(2010)
Cited for: VARIANTS CFTD VAL-4; PRO-91; HIS-168 AND LYS-241;
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.