Variant position: 657 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1288 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 FLAIRLLLSLGRHEEVLPFA ERLQLLSGHPPASEAVASVLS
Mouse FLAIRLLLSLGRHEEVVPFA ERLQLLSGHPPASEATATMLS
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 – 1288 SH3 domain and tetratricopeptide repeat-containing protein 2
1 – 1138 Missing. In isoform 2 and isoform 3.
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
Senderek J.; Bergmann C.; Stendel C.; Kirfel J.; Verpoorten N.; De Jonghe P.; Timmerman V.; Chrast R.; Verheijen M.H.G.; Lemke G.; Battaloglu E.; Parman Y.; Erdem S.; Tan E.; Topaloglu H.; Hahn A.; Mueller-Felber W.; Rizzuto N.; Fabrizi G.M.; Stuhrmann M.; Rudnik-Schoeneborn S.; Zuechner S.; Schroeder J.M.; Buchheim E.; Straub V.; Klepper J.; Huehne K.; Rautenstrauss B.; Buettner R.; Nelis E.; Zerres K.;
Am. J. Hum. Genet. 73:1106-1119(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANTS CMT4C GLN-529; LYS-657 AND CYS-658;
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.