Variant position: 517 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1570 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 DLKPDNLLITSMGHIKLTDF GLSKMGLMSLTTNLYEGHIEK
Mouse DLKPDNLLITSMGHIKLTDF GLSKMGLMSLTTNLYEGHIEK
Rat DLKPDNLLITSMGHIKLTDF GLSKMGLMSLTTNLYEGHIEK
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 – 1570 Microtubule-associated serine/threonine-protein kinase 1
374 – 647 Protein kinase
497 – 497 Proton acceptor
Mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations.
Tripathy R.; Leca I.; van Dijk T.; Weiss J.; van Bon B.W.; Sergaki M.C.; Gstrein T.; Breuss M.; Tian G.; Bahi-Buisson N.; Paciorkowski A.R.; Pagnamenta A.T.; Wenninger-Weinzierl A.; Martinez-Reza M.F.; Landler L.; Lise S.; Taylor J.C.; Terrone G.; Vitiello G.; Del Giudice E.; Brunetti-Pierri N.; D'Amico A.; Reymond A.; Voisin N.; Bernstein J.A.; Farrelly E.; Kini U.; Leonard T.A.; Valence S.; Burglen L.; Armstrong L.; Hiatt S.M.; Cooper G.M.; Aldinger K.A.; Dobyns W.B.; Mirzaa G.; Pierson T.M.; Baas F.; Chelly J.; Cowan N.J.; Keays D.A.;
Cited for: FUNCTION; TISSUE SPECIFICITY; INVOLVEMENT IN MCCCHCM; VARIANTS MCCCHCM GLU-195 DEL; LYS-277 DEL; LEU-279 DEL AND SER-517; VARIANTS LEU-93; VAL-98; SER-517; THR-915 AND ARG-1177;
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.