Variant position: 29 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 MVLSTLRSLNNFISQRVEGG SGLDISTSAPGSLQMQYQQSM
Mouse TVLSSLRSLNNFISQRMEGT SGLDVSTSASGSLQKQYEYHM
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
16 – 16 Phosphoserine
1 – 65 MEDLGENTMVLSTLRSLNNFISQRVEGGSGLDISTSAPGSLQMQYQQSMQLEERAEQIRSKSHLI -> MLPARGCVRKRTVWPRLARVLIVTLLTLELSYAPLPCQLSGVPYNTGDPVGRWARPCIWPCPWHT. In isoform 2.
1 – 485 Missing. Defective dimerization. Abolishes binding to the closed and open conformations of MAD2L1. Impairs mitotic checkpoint signaling abolishing mitotic arrest, and shortens the duration of mitosis.
Mutations in the mitotic check point gene, MAD1L1, in human cancers.
Tsukasaki K.; Miller C.W.; Greenspun E.; Eshaghian S.; Kawabata H.; Fujimoto T.; Tomonaga M.; Sawyers C.; Said J.W.; Koeffler H.P.;
Cited for: VARIANTS CANCER LEU-29; CYS-59; GLN-360; LYS-516; CYS-556 AND LYS-569; VARIANTS MET-500 AND HIS-558;
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