Variant position: 556 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 718 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 DQSRTKVLHMSLNPTSVARQ RLREDHSQLQAECERLRGLLR
Mouse NQSRTKVLHMSLNPISMARQ RQHEDHDRLQEECERLRGLVH
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 – 718 Mitotic spindle assembly checkpoint protein MAD1
46 – 632
541 – 541 K -> A. Abolishes binding to closed and open conformations of MAD2L1 and impairs mitotic checkpint signaling abolishing mitotic arrest, and shortens the duration of mitosis; in association with A-543.
543 – 543 L -> A. Abolishes binding to closed and open conformations of MAD2L1 and impairs mitotic checkpoint signaling abolishing mitotic arrest, and shortens the duration of mitosis; in association with A-541.
549 – 575
Search for in vivo somatic mutations in the mitotic checkpoint gene, hMAD1, in human lung cancers.
Nomoto S.; Haruki N.; Takahashi T.; Masuda A.; Koshikawa T.; Takahashi T.; Fujii Y.; Osada H.; Takahashi T.;
Cited for: VARIANT LUNG CANCER ALA-299; VARIANTS SER-160; MET-500; LYS-511; HIS-556 AND HIS-558;
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.