Variant position: 128 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 393 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 RNQIIRELQVLHECNSPYIV GFYGAFYSDGEISICMEHMDG
Chimpanzee RNQIIRELQVLHECNSPYIV GFYGAFYSDGEISICMEHMDG
Mouse RNQIIRELQVLHECNSPYIV GFYGAFYSDGEISICMEHMDG
Rat RNQIIRELQVLHECNSPYIV GFYGAFYSDGEISICMEHMDG
Rabbit RNQIIRELQVLHECNSPYIV GFYGAFYSDGEISICMEHMDG
Xenopus laevis RNQIIRELQVLHECNSPYIV GFYGAFYSDGEISICMEHMDG
Slime mold RKQIILELKTLHKTSYPYIV SFYDAFYTEGSIFIALEFMEL
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 – 393 Dual specificity mitogen-activated protein kinase kinase 1
68 – 361 Protein kinase
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz A.L.; Albrecht B.; Arici C.; van der Burgt I.; Buske A.; Gillessen-Kaesbach G.; Heller R.; Horn D.; Hubner C.A.; Korenke G.C.; Konig R.; Kress W.; Kruger G.; Meinecke P.; Mucke J.; Plecko B.; Rossier E.; Schinzel A.; Schulze A.; Seemanova E.; Seidel H.; Spranger S.; Tuysuz B.; Uhrig S.; Wieczorek D.; Kutsche K.; Zenker M.;
Clin. Genet. 73:62-70(2008)
Cited for: VARIANT CFC3 VAL-128;
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