Variant position: 130 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 QIIRELQVLHECNSPYIVGF YGAFYSDGEISICMEHMDGGS
Chimpanzee QIIRELQVLHECNSPYIVGF YGAFYSDGEISICMEHMDGGS
Mouse QIIRELQVLHECNSPYIVGF YGAFYSDGEISICMEHMDGGS
Rat QIIRELQVLHECNSPYIVGF YGAFYSDGEISICMEHMDGGS
Rabbit QIIRELQVLHECNSPYIVGF YGAFYSDGEISICMEHMDGGS
Xenopus laevis QIIRELQVLHECNSPYIVGF YGAFYSDGEISICMEHMDGGS
Slime mold QIILELKTLHKTSYPYIVSF YDAFYTEGSIFIALEFMELGS
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 – 393 Dual specificity mitogen-activated protein kinase kinase 1
68 – 361 Protein kinase
150 – 150 S -> A. No loss of activity.
129 – 135
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P.; Tetsu O.; Tidyman W.E.; Estep A.L.; Conger B.A.; Cruz M.S.; McCormick F.; Rauen K.A.;
Cited for: VARIANTS CFC3 SER-53 AND CYS-130;
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